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Sample records for congenital vertebral malformations

  1. A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

    Science.gov (United States)

    Gutierrez-Quintana, Rodrigo; Guevar, Julien; Stalin, Catherine; Faller, Kiterie; Yeamans, Carmen; Penderis, Jacques

    2014-01-01

    Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. PMID:24833506

  2. Computer-Assisted Radiographic Calculation of Spinal Curvature in Brachycephalic “Screw-Tailed” Dog Breeds with Congenital Thoracic Vertebral Malformations: Reliability and Clinical Evaluation

    OpenAIRE

    Guevar, Julien; Penderis, Jacques; Faller, Kiterie; Yeamans, Carmen; Stalin, Catherine; Gutierrez-Quintana, Rodrigo

    2014-01-01

    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009–2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present...

  3. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  4. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Science.gov (United States)

    Guevar, Julien; Penderis, Jacques; Faller, Kiterie; Yeamans, Carmen; Stalin, Catherine; Gutierrez-Quintana, Rodrigo

    2014-01-01

    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations. PMID:25198374

  5. Computer-Assisted Radiographic Calculation of Spinal Curvature in Brachycephalic “Screw-Tailed” Dog Breeds with Congenital Thoracic Vertebral Malformations: Reliability and Clinical Evaluation

    Science.gov (United States)

    Guevar, Julien; Penderis, Jacques; Faller, Kiterie; Yeamans, Carmen; Stalin, Catherine; Gutierrez-Quintana, Rodrigo

    2014-01-01

    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009–2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations. PMID:25198374

  6. Congenital malformations in multiple births

    OpenAIRE

    Sharada B. Menasinkai; Dakshayani K. R.; M. A. Chiniwar

    2013-01-01

    Objective: The present study was done to know and compare the incidence of congenital malformations in singleton and multiple births in our hospital & compare with other studies. Methods: A retrospective study done by collecting the data from parturition register from Jan 2008 to Dec 2011 (4yrs) from Cheluvamba Hospital attached to Mysore Medical College and Research Institute. Total number of the live births, still births, and abortions> 20 wks were collected. Details of multiple births such...

  7. Congenital arteriovenous malformations: tailored embolotherapy.

    Science.gov (United States)

    Widlus, D M; Murray, R R; White, R I; Osterman, F A; Schreiber, E R; Satre, R W; Mitchell, S E; Kaufman, S L; Williams, G M; Weiland, A J

    1988-11-01

    Congenital arteriovenous malformations (AVMs) involving the pelvis or an extremity were occluded in 16 symptomatic patients, who subsequently underwent tailored embolotherapy. An additional 11 patients did not undergo embolization due to unfavorable vascular anatomy or lack of significant symptoms. Permanent occlusive agents including isobutyl cyanoacrylate, particles of polyvinyl alcohol foam, and coils were used to embolize the multiple feeding vessels and, when possible, the nidus of the AVM. All patients experienced dramatic reduction in pain and resolution of ulceration and bleeding, with a mean follow-up period of 41 months. Symptoms recurred in four patients but again resolved with repeat embolization. The authors conclude that selective and repetitive embolization is highly effective in palliation of symptomatic congenital AVMs. PMID:3175000

  8. Congenital malformations in multiple births

    Directory of Open Access Journals (Sweden)

    Sharada B. Menasinkai

    2013-06-01

    Full Text Available Objective: The present study was done to know and compare the incidence of congenital malformations in singleton and multiple births in our hospital & compare with other studies. Methods: A retrospective study done by collecting the data from parturition register from Jan 2008 to Dec 2011 (4yrs from Cheluvamba Hospital attached to Mysore Medical College and Research Institute. Total number of the live births, still births, and abortions> 20 wks were collected. Details of multiple births such as maternal age, gestational age, sex & birth weight of the babies, U/S reports and congenital anomalies (CA were noted. Results: The total number of singleton births were 48700 and number of babies who had congenital malformations were 235 (48.25/10,000 births.Total number of multiple births were 579 including 10 triplets and number of babies who had CA were 11 (189.98/10,000 births, P<0.0001. In the present study sex of the babies were noted in all multiple births and zygosity could not be recorded. Among 579 multiple births 404 were of the Same Sex (SS and 165 were of Opposite Sex (OS in twins and 6 were of the same sex and 4 were of opposite sex in triplets. According to Weinberg formula 50% of same sex (SS twins are monozygotic and 50% are dizygotic twins. Among the 11 babies with CA, 4 monozygotic twins had anomalies related to twinning such as Acardia with TRAP sequence (3 twins, and Thoracophagus (1 twin.5 babies had CNS anomalies, 1 with cystic hygroma, 1 baby with multiple system affected. Conclusion: The incidence of birth defects is more in multiple births and especially in monozygotic twins. In the present days increase in twinning rate due to advanced maternal age, hereditary factors and use of ovulation inducing drugs, which results in premature and low birth wt babies associated with poor lung maturity. [Int J Res Med Sci 2013; 1(3.000: 216-221

  9. Complex Vertebral Malformation (CVM) in an Italian Holstein calf

    International Nuclear Information System (INIS)

    Complex Vertebral Malformation, a congenital and lethal genetic defect of Holstein breed, has been recently observed in different Countries all over the world. In this paper the AA describe the clinical and radiological aspects of CVM in a two day old female calf. The disease was characterized by low body weight, symmetrical arthrogryposis and partial rotation of all legs and scoliosis. Calf was alert and showed physiological appetite, but was not able to maintain the quadrupedal stance. Radiographs of the vertebral column showed multiple vertebral anomalies, including hemivertebrae, fused and misshapen vertebrae and ribs and scoliosis, that affected mainly the caudal, cervical and thoracic regions. At necropsy, besides the skeleton anomalies, complex malformation of the heart was observed, which included atrial and interventricular defects and patent ductus arteriosus. This is the first case of CVM completely documented and genetically tested in Italy

  10. Congenital pancreas malformations: a clinical case report

    OpenAIRE

    A. Bento; H. Baptista; Oliveira, FJ

    2013-01-01

    OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP) and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify w...

  11. Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

    Energy Technology Data Exchange (ETDEWEB)

    Breitling, Magnus; Rabin, Michael [University of Saskatchewan, Department of Medical Imaging, Saskatoon, Saskatchewan (Canada); Lemire, Edmond G. [University of Saskatchewan, Division of Medical Genetics, Department of Pediatrics, Saskatoon (Canada)

    2006-08-15

    Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor. (orig.)

  12. Congenital malformations in newborns of alcoholic mothers

    Directory of Open Access Journals (Sweden)

    Maria dos Anjos Mesquita

    2010-12-01

    Full Text Available Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births, 6 with congenital defects related to alcohol (3.0/1,000 live births, and 67 with developmental disorders related to alcohol (34.1/1,000 live births. The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

  13. FULL SCIENTIFIC REPORTS - Complex vertebral malformation in Holstein calves.

    DEFF Research Database (Denmark)

    Agerholm, JØrgen S.; Bendixen, Christian

    2001-01-01

    A recently observed lethal congenital defect of purebred Holstein calves is reported. Eighteen genetically related calves were necropsied. One calf had been aborted on gestation day 159, and the others were delivered between day 250 and day 285. Birth weights were reduced. The defect was characterized by shortening of the cervical and thoracic parts of the vertebral column due to multiple hemivertebrae, fused and misshaped vertebrae, and scoliosis. Symmetrical flexures of the carpal joints and the metacarpophalangeal joint in combination with a slight lateral rotation of the phalanges also were present. Similar low-grade arthrogryposis was present in the posterior limbs. Fifty percent of the calves had heart malformation. Other malformations occurred in a few calves. Complex vertebral malformation (CVM) is proposed as the designation for this defect. A genetic etiology is indicated because cases occurred following breeding between genetically related individuals. Two common ancestors were found; both were former elite sires of US Holstein origin. Because of the widespread international use of semen from sires occurring in the pedigrees of affected calves, CVM is expected to occur in several countries.

  14. Congenital spinal malformations; Kongenitale spinale Malformationen

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    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  15. Clinical and molecular genetic characterization of congenital malformations

    OpenAIRE

    Winberg, Johanna

    2015-01-01

    Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. Important issues for these families are the etiology, prognosis and recurrence risk of the malformation in future pregnancies. Nowadays, around 50% of patients with malformations in combin...

  16. Congenital bronchopulmonary vascular malformations, “sequestration” and beyond

    Science.gov (United States)

    Irodi, Aparna; Prabhu, Shailesh M; John, Reetu Amrita; Leena, RV

    2015-01-01

    Congenital bronchopulmonary vascular malformations (BPVMs) include a broad spectrum of disorders that involve abnormalities in the form of disruptions of normal communication and/or presence of abnormal communication between one or more of the three main systems of the lung, namely, the airways, arteries, and veins. The establishment of abnormal communications by means of small openings or anastomoses is termed as malinosculation. The aim of this pictorial essay is to illustrate the imaging appearances of the various types of pulmonary malinosculation. PMID:25709164

  17. Congenital Malformation Prevalence in Cluj District between 2003-2007

    OpenAIRE

    ?tefan I. ?IGAN; Tudor MÎRZA; Rodica RADU; Anamaria MOLNAR

    2009-01-01

    Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and ...

  18. Ascertainment of congenital malformations: a comparative study of two systems.

    OpenAIRE

    Dutton, S. J.; Owens, J. R.; Harris, F.

    1991-01-01

    STUDY OBJECTIVE--The aim was to compare the Office of Population Censuses and Surveys (OPCS) notification system for congenital malformation surveillance and the Liverpool Congenital Malformations Registry (LCMR) with respect to efficiency and uniformity of ascertainment, diagnostic accuracy, and overreporting of minor malformations. DESIGN--Manual matching of computer listings was done, using date of birth, sex, birthweight, and health district of residence. Maternal age was used to confirm ...

  19. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    Science.gov (United States)

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed. PMID:6710330

  20. Congenital Malformation Prevalence in Cluj District between 2003-2007

    Directory of Open Access Journals (Sweden)

    ?tefan I. ?IGAN

    2009-12-01

    Full Text Available Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and Method: The study was retrospective and was carried on for a period of five years (2003-2007 based on medical records and on laboratory results, (especially those for TORCH screening: toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Results: Major structural anomalies were present at 39.51% (388 cases of 982 patients which were registered in Genetic Pathology Center from Pediatric Clinics I, Cluj-Napoca. Diagnosed abnormalities included: congenital malformations of circulatory, respiratory, digestive, central nervous system, congenital malformations of skeletal system, Down syndrome, which is consistent with results of other studies showing that the most common are heart abnormalities (33.06%, followed in descending order of frequency by urinary, genital, CNS, skin, oral-facial cleft and digestive anomalies. Conclusions: Early detection of major malformation during early pregnancy can indicate for medical termination of pregnancy to reduce the high morbidity and mortality of neonates due to congenital malformations. So proper and timely counselling, regular antenatal care with folate supplementation especially during the most sensitive period of embryogenesis is essential to avoid major congenital malformation for future pregnancy.

  1. Open resections for congenital lung malformations

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    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  2. Congenital malformations in twins in England and Wales.

    OpenAIRE

    Doyle, PE; Beral, V.; Botting, B; Wale, CJ

    1991-01-01

    STUDY OBJECTIVE--The aim was to compare congenital malformation rates in twin births with those in singleton births. DESIGN--The study was an analysis of malformation rates in singleton and twin births using data from the Office of Population Censuses and Survey's Congenital Malformation Notification Scheme. SETTING--This was a national survey of births in England and Wales in 1979-1980 and 1982-1985. PARTICIPANTS--The data comprised 95,510 reported malformations in 3.7 million singleton birt...

  3. Amplatzer vascular plugs in congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially usefuhe closure of tubular structures with a high flow

  4. Congenital malformations of the external and middle ear.

    Science.gov (United States)

    Kösling, S; Omenzetter, M; Bartel-Friedrich, S

    2009-02-01

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented. PMID:18054456

  5. Congenital malformations of the external and middle ear

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, S. [University of Halle, Department of Diagnostic Radiology (Germany)], E-mail: sabrina.koesling@medizin.uni-halle.de; Omenzetter, M. [University of Halle, Department of Diagnostic Radiology (Germany); Bartel-Friedrich, S. [University of Halle, Department of Otorhinolaryngology - Head and Neck Surgery, Section of Phoniatrics and Pedaudiology (Germany)

    2009-02-15

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented.

  6. Congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

  7. Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

  8. Congenital malformations and maternal occupation in Finland: multivariate analysis.

    OpenAIRE

    Hemminki, K; Mutanen, P; Saloniemi, I; Luoma, K.

    1981-01-01

    The Finnish Register of Congenital Malformations was used in a multivariate analysis to explore the associations between maternal occupation in industry and children born with central nervous system (CNS) or musculoskeletal or oral cleft malformations. Possible confounding factors were selected in preliminary screening of risk indicators for malformations. These factors included characteristics of the mother, the child, and the family; maternal illnesses; an maternal medication at the time of...

  9. Clinico-roentgenological atlas of congenital malformations in human limbs

    International Nuclear Information System (INIS)

    The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

  10. Spitz nevus arising upon a congenital glomuvenous malformation.

    Science.gov (United States)

    Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

    2013-01-01

    There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM. PMID:22304367

  11. Congenital ossicular malformation. A study of 27 ears

    International Nuclear Information System (INIS)

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

  12. Monitoring congenital malformation among inhabitants of town

    International Nuclear Information System (INIS)

    In Russia rendering of medical care of inhabitants of town located not far from works of nuclear industries be provided for system of special referral centers. Now the congenital malformation (CM) is one of the most issue of the day unresolved problem protection of genetic health of populations. CM account weighty part of structure incidence nursery every where. The most of CM lead to developmental disability, substantively restrict to life span and fertility. for the present moment the treatment CM developed for isolated instances therefore special prophylaxis to take on special significance. The one way to prophylaxis is simultaneous monitoring of CM and chief factors of disutility. In the framework of the State system of monitoring of CM our research laboratory of the State Research Centre Institute of Biophysics to Make a reality monitoring CM in the families of personnel of units of the atomic industry. From 2000 and during the present moment we are logged data about 21 a species of CM. In any case monstriparity with one of these CM in the families of workers of the atomic industry we investigated this case. Pro hac vice we are logged data about professional contacts parents this child with any factors of professional disutility including ionizing radiation. During 2002 we was obtained reliable information from 13 special referral centers about 33 case of birth of baby with CM. It's average about 1/1000 from all case of birth. From this case only 12 babies with Cirth. From this case only 12 babies with CM was birth in the families of personnel of the atomic industry. (Author)

  13. Behavioral Effects of Congenital Ventromedial Prefrontal Cortex Malformation

    OpenAIRE

    Boes Aaron D; Grafft Amanda; Joshi Charuta; Chuang Nathaniel A; Nopoulos Peg; Anderson Steven W

    2011-01-01

    Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testin...

  14. The effect of Consanguineous Marriages on Congenital Malformation

    OpenAIRE

    Mehrabi Kushki, A.; Zeyghami, B.

    2005-01-01

    Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%. This study aimed to delineating the role of consanguinity on congenital malformations in Khominishahr rural population, Isfahan, Iran. Methods: In a case-control study, 518 malformed population (case group) and 518 normal subjects (control group) were randomly selected from khominishahr rural population, from July...

  15. Congenital malformations in the neonatal unit of Arifin Achmad Hospital, Pekanbaru: occurrence and trends

    OpenAIRE

    Dewi Anggraini Wisnumurti

    2012-01-01

    Background Congenital malformations are a global and continual issue, contributing to neonatal mortality. The incidence and prevalence, as well as distribution of congenital malformations vary among countries. Objective To determine the`prevalence, distribution, and trends in congenital malformations which are important to develop plans to cope with the problem. Methods We reviewed all cases of congenital malformations admitted ti the Neonatal Unit, Department of Child Health, Arifin ...

  16. Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

    International Nuclear Information System (INIS)

    Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9th , 12th and 15th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12th and 15th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

  17. Espectro óculo-aurículo-vertebral e malformações cardíacas / Oculo-auriculo-vertebral spectrum and cardiac malformations

    Scientific Electronic Library Online (English)

    Rafael Fabiano Machado, Rosa; Lisiane, Dall' Agnol; Paulo Ricardo Gazzola, Zen; Vera Lúcia Berenstein, Pereira; Carla, Graziadio; Giorgio Adriano, Paskulin.

    Full Text Available OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV), tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indi [...] víduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 dia a 17 anos. Todos apresentavam avaliação cariotípica normal por bandas GTG. Realizou-se uma coleta de dados referentes à sua história clínica, exame físico e resultado de avaliações complementares. RESULTADOS: Anormalidades cardíacas foram observadas em 13 pacientes (39,4%). Dessas, cinco (38,5%) eram do tipo conotruncal, sendo o principal defeito a tetralogia de Fallot (n=2). Malformações não usuais identificadas incluíram o cor triatriatum e a dupla via de entrada de ventrículo esquerdo. Diferenças significativas entre as características clínicas do grupo com e sem cardiopatia foram verificadas somente em relação à idade na primeira avaliação, que foi mais baixa naqueles com malformações cardíacas. Cinco indivíduos foram a óbito, quatro deles portadores desses defeitos. CONCLUSÃO: Malformações cardíacas, em especial dos tipos conotruncal e septal, são frequentes entre pacientes com EOAV. A frequência encontrada em nosso estudo foi estatisticamente similar à da maior parte dos trabalhos descritos na literatura, que oscila de 18% a 58%. As cardiopatias congênitas também representam a principal causa de óbito desses indivíduos. Portanto, uma avaliação cardiológica, especialmente precoce, deveria ser sempre realizada nesses pacientes. Abstract in english OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in an effort to correlate presence of these defects with other clinical characteristics and evolution. METHODS: The sample comprised 33 subjects, all attend [...] ed in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female and their ages ranged from 1 day to 17 years. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. RESULTS: Cardiac abnormalities were observed in 13 patients (39.4%). Of these defects, 5 (38.5%) were conotruncal, tetralogy of Fallot being the main malformation (n=2). Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them, bearers of congenital heart defects. CONCLUSION: Cardiac malformations, mainly conotruncal and septal defects, are frequent among patients with OAVS. Frequency found in our study was statistically similar to the majority of works described in literature where it ranged from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

  18. Congenital cystic adenomatoid malformation with prenatal diagnosis:case report

    Directory of Open Access Journals (Sweden)

    Salih Kalay

    2012-12-01

    Full Text Available Congenital cystic adenomatoid malformation is a hamartomatous malformation accepted as an embryonic differentiation anomaly characterized by replacement of normal lung parenchyma by cysts of various sizes and numbers. The primigravid presented on her 24th week with the ultrasound findings of a fetus with unilateral cyts in left lung. Thoracoamniotic shunting was inserted at a mean gestational age of 24. Patient was born due to premature rupture of membranes and preterm delivery at a mean gestational age of 25. We present a case of congenital cystic adenomatoid malformation type I in a newborn who died in twelve hours after birth and discuss about pre- and postnatal diagnostic and therapeutic possibilities. (Turk Arch Ped 2012; 47: 294-7

  19. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies wrmalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  20. SPINAL AND VERTEBRAL ANOMALIES ASSOCIATED WITH ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    A. Mirshemirani

    2008-10-01

    Full Text Available ObjectiveThe associations between imperforate anus and spinal and vertebral abnormalities and neurologic deficits are well recognized; these neurologic deficits have been considered static rather than progressive. However, recent experience indicates that some patients may develop progressive neurologic problems due to spinal cord lesions that are amenable to neurosurgical correction.Materials & MethodsThe medical records of 105 patients with imperforate anus, operated on by us, were retrospectively reviewed from 1996 to 2005. Patient's sex, anorectal type lesion and vertebral or spinal anomalies were determined by ultrasound, excretory urography, voiding cystouretherography (VCUG and lumbosacral x-ray.ResultsA hundred and five cases, consisting 48 (45.7% boys and 57 (54.3% girls, with anorectal malformations were studied; 70 patients were in high and intermediate type level, and totally 25 patients (35.7% with spinal and vertebral anomalies were found in this group.ConclusionAll patients with anorectal malformations (ARM should be investigated for spinal and vertebral anomalies to improve treatment outcomes in ARM.

  1. Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation

    OpenAIRE

    Samuel, M.; Burge, D.

    1999-01-01

    BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.?METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic...

  2. Congenital malformations in the neonatal unit of Arifin Achmad Hospital, Pekanbaru: occurrence and trends

    Directory of Open Access Journals (Sweden)

    Dewi Anggraini Wisnumurti

    2012-09-01

    Full Text Available Background Congenital malformations are a global and continual issue, contributing to neonatal mortality. The incidence and prevalence, as well as distribution of congenital malformations vary among countries. Objective To determine the`prevalence, distribution, and trends in congenital malformations which are important to develop plans to cope with the problem. Methods We reviewed all cases of congenital malformations admitted ti the Neonatal Unit, Department of Child Health, Arifin Ahmad Hospital from 2008 to 2010, Data were collected from medical records. Diagnoses of congenital malformations were established by history-taking, physical examination, and specific laboratory tests. Trends in the distribution of congenital malformation types, as well as clinical outcomes were highlighted. Results During the study period there were 2,317 infants admitted to the Neonatal Unit, 724 in 2008, 772 in 2009, and 821 in 2010. Most patients were referred by other hospitals, at the age of 0-3 days. Most patients had normal birth weight and were delivered vaginally. Of the 2,317 infants, 302 were diagnosed with congenital malformations; the most common congenital malformations were of the digestive tract. The distribution of anomaly types was relatively constant over time, but the proportion of patients with congenital malformations discharged alive increased in the latter two years of the 3-year period studied. Conclusion Most infants in our study had congenital malformations involving the gastrointestinal tract. Distribution trends were constant over time. Further efforts should be made to better manage future cases.

  3. Bronchopulmonary malformations and congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Nüvit Sar?murat

    2010-05-01

    Full Text Available Airways with lung parenchyma and foregut develop from primitive foregut. Bronchopulmonary foregut molformations are the name of congenital, structural, often sporadic and non-hereditary anomalies including vessel anomalies formes during individual development of these two system following their separation from each other. The wideley observed forms are summarise in the context of this article. Congenital diaphragmatic hernia (CDH is a disease that is coused by the incomplete maturation of the diaphragm and a defect mostly on the left side, at the postero-lateral portion of the diaphragm. Diaphragm completes its growth around 4th-8th gestational age. If not then the abdominal viscera moves into the thoracic cavity and lung development is insufficient due to compression of the abdominal organs.This also causes maturation problem at the pulmonary arteries and ends up with severe pulmonary hipertansion that might be highly fatal in the newborns. (Turk Arch Ped 2010; 45 Suppl: 68-71

  4. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    Directory of Open Access Journals (Sweden)

    Boes Aaron D

    2011-12-01

    Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

  5. [Clinical observations on 2 cases of congenital pulmonary malformation].

    Science.gov (United States)

    Onescu, A; Albu, A; Niculescu, A

    1976-01-01

    The present paper reports on two cases of congenital malformation of the lungs, in young adults, treated surgically. Each case had particular clinical features: left pulmonary aplasia with residual thymus and herniation of the right lung in the left pleural cavity in one case, and left pulmonary hypoplasia with aberrant pulmonary circulation, secondary cystic bronchiectasia, serofibrinous pleurisy. The necessity of an early diagnosis and surgical treatment is emphasized. PMID:188113

  6. Prevalence of congenital malformation in newborns of the public hospital

    Directory of Open Access Journals (Sweden)

    Aritana Pereira Ramos

    2008-01-01

    Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil-congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.

  7. Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

    Directory of Open Access Journals (Sweden)

    Moréh Zsuzsanna

    2013-02-01

    Full Text Available Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI. Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

  8. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia : An MRI study

    OpenAIRE

    Alorainy Ibrahim

    2006-01-01

    Background: More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembryologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. Patie...

  9. Central nervous system and vertebral malformation resembling the Arnold-Chiari syndrome in a Simmental calf.

    OpenAIRE

    LeClerc, S; López, A.; Illanes, O

    1997-01-01

    Multiple congenital anomalies were identified in a stillborn calf, including severe cerebellar hypoplasia and central nervous system abnormalities resembling the Arnold-Chiari syndrome of malformation of calves. The Arnold-Chiari malformation occurs sporadically and has little economic impact, whereas cerebellar hypoplasia implies the presence of BVD virus in the herd.

  10. Survey of Congenital Major Malformation in 10,000 Newborns

    Directory of Open Access Journals (Sweden)

    Gh A Mamuri

    2005-11-01

    Full Text Available Background: Congenital major malformations (CMM are one of the most important causes of admission of newborns in hospitals, and neonatal morbidity and mortality. The incidence of CMM depends age of affected patients. In newborns infants, it is approximately 2-3%. The great majority of CMM occurs sporadic (86%, genetic and exogenic factors both play a role in their occurrence. The aim of this research is to determine the incidence and the associated factors with CMM in Iran. Methods: This is a prospective, analytical, and descriptive study. This study was performed with simple randomized sampling for two year, which involved all live born infants without no anomaly (control group and all newborns with CMM (patients group. There was a total of 10450 infants. Stillbirth infants and those who died in few hours after birth were excluded and finally 9200 newborns were enrolled in our study. Findings: As a result, the incidence of CMM was approximately 1.8%, isolate malformation (74% were more common than multiple malformations, musculoskeletal system were the most affected system, and multifactorial inheritance accounted the most etiologic factor. There was no predominance of the two sexes in patients group. Maternal age of over 30 years, consanguineous marriage and positive familial history of CMM, were associated with higher incidence of CMM. Rout of delivery and incidence of prematurity had no CMM incidence rate. Conclusions: Although we got the same result as other investigations, if we enrolled abortions, stillbirth infants and if we used screening tests and genetical studies, the incidence of CMM would be more than 1.8%. Smoking, using drugs, high fever, viral rash and ultrasonography during pregnancy may be probable etiologic factors in CMM. We recommend multicenteral and larger studies for CMM in Iran.

  11. Factores de riesgo de ocurrencia y gravedad de malformaciones congénitas / Identification of risk factors for congenital malformations

    Scientific Electronic Library Online (English)

    Andrea, Canals C; Gabriel, Cavada C; Julio, Nazer H.

    1431-14-01

    Full Text Available [...] Abstract in english Background: The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. Aim: To identify risk factors for congenital malformations. Patients and Methods: Retrospective case-contro [...] l study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Results: Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother’s age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Conclusions: Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  12. Chromosomal investigations in patients with mental retardation and/or congenital malformations

    OpenAIRE

    Santos, C. B.; Boy, R. T.; Santos, J. M.; Silva, M. P. S.; Pimentel, M. M. G.

    2000-01-01

    We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Tu...

  13. Maternal smoking in pregnancy and risk for congenital malformations : results of a Danish register-based cohort study

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna

    2014-01-01

    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. MAIN OUTCOME MEASURES: Groups of congenital malformations. RESULTS: Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. CONCLUSIONS: Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy.

  14. Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

    International Nuclear Information System (INIS)

    A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

  15. Congenital malformations and death among the offspring of Danish pharmacy assistants

    DEFF Research Database (Denmark)

    Schaumburg, Inger; Olsen, J

    1990-01-01

    Congenital malformations, stillbirth, and infant mortality were studied in a cohort of all female pharmacy assistants in Denmark under the age of 40 years who were members of the national union in 1979 to 1984 (4,939). Data on all births and deaths during first year of life during the study period were identified through the national birth register. Information on type of work, exposures, and life-style variables were obtained by postal questionnaires, to which 93% responded. In general, pharmacy assistants had a low frequency of congenital malformation and death among their offspring. Compared with an internal reference group, pharmacy assistants engaged in production or packing of pharmaceutical products experienced an increased prevalence of congenital malformations among their offspring. Working with identification and controls showed a slightly increased risk of death during the first year of life of the children. This could indicate occupational risks, but other explanations cannot be excluded.

  16. Maternal use of fluconazole and risk of congenital malformations: a Danish population-based cohort study

    DEFF Research Database (Denmark)

    NØrgaard, Mette; Pedersen, Lars

    2008-01-01

    OBJECTIVES: Fluconazole is widely used for the treatment of candidiasis. Although the drug is also prescribed to pregnant women, data on the safety of use of fluconazole during pregnancy are limited. We examined the association between the maternal use of fluconazole during pregnancy and the risk of congenital malformations. PATIENTS AND METHODS: In this population-based cohort study in Northern Denmark, we included 1079 women who had a live birth or a stillbirth after the 20th week of gestation and who redeemed at least one prescription for fluconazole during the first trimester. The reference cohort comprised 170 453 pregnant women who redeemed no fluconazole prescription during pregnancy. The women were identified through the Danish Medical Birth Registry. Data on drug use, birth outcome and covariates were extracted from population-based healthcare databases. We used logistic regression to estimate the prevalence odds ratio (POR) for congenital malformations after fluconazole exposure, while adjusting formaternal smoking, parity, maternal age and concurrent prescriptions for antiepileptics or antidiabetics. RESULTS: Among 1079 women who filled a fluconazole prescription during the first trimester, 797 (74%) received a total of 150 mg of fluconazole, 235 (22%) received 300 mg of fluconazole, 24 (2%) received 350 mg of fluconazole and 23 (2%) received 600 mg of fluconazole. These women gave birth to 44 (4.1%) children with congenital malformations. The 170 453 women without fluconazole prescriptions gave birth to 6152 (3.6%) children with congenital malformations. For congenital malformations overall, the adjusted POR associated with the first-trimester fluconazole use was 1.0 (95% confidence interval: 0.8-1.4). CONCLUSIONS: We found no overall increased risk of congenital malformations after exposure to short-course treatment with fluconazole in early pregnancy.

  17. Surveillance of congenital malformations in Belarus. Chernobyl aftermath

    International Nuclear Information System (INIS)

    Full text: In order to study possible genetic effects of the Chernobyl accident in human population a comparative analysis of the prevalence at birth of congenital malformations (CM) was performed on region and area administrative levels basing on the data of Belarus registry of CM permanently functioning since 1979. An attempt was made to evaluate dose dependence of the effects under study. We analyzed time trends of the prevalence at birth of 9 so called 'mandatory registered' nosologic units of CM. These group of CM could be easily diagnosed within the neonatal period and were assigned for registration at creation of the registry. Over 12 thousand cases registered within the period of 1981 to 2004 in 4 regions as well as about 3 thousand cases found in 47 rayons highly contrasting by radiation exposure were scrutinized. No long-term impact of the Chernobyl release on prevalence rates of surveyed CM was shown. Since the middle 80-s a similar steady increasing trend was observed as in contaminated, as in control areas with a tendency to stabilization after middle 90-s. We fail to reveal a dose dependence for CM prevalence rates calculated for the whole post-accidental period. Nonetheless, during the first years after the accident situation in contaminated areas was notably different from those in the control. Within the period of 1987 to 1989 a significant access of CM prevalence was registered in the strict radiological control area (Cs 137 soil contamination over 5rol area (Cs 137 soil contamination over 555 kBq/m2) as compared to non-contaminated zone. Relative risk was estimated as RR1987-1989 = 1.57 with 95% confidence interval being 95%CI = [1.29; 1.89]. Before the accident no difference in prevalence rates was marked (RR1981-1986 = 0.93; 95%CI = [0.80; 1.09]); nor it was evident in the farther post-accidental period (RR1990-2004 = 0.99; 95%CI = [0.80; 1.09]). Anomalies with high contribution of dominant de novo mutations (polydactyly, reduction defects of limbs and multiple CM) played principal role in the revealed increase. For this CM group a correlation with the estimated effective dose values was observed within the corresponding time period, no such relationship was marked for other analyzed CM, however. Analysis of the farther period failed to reveal a similar association for any group of CM under study. Thus, adverse effect of the Chernobyl accident on fetal development could not be excluded only within the first years after the accident. Peculiarity of the group of anomalies, chosen for the study, limits the impact of screening effect; however, it could not be completely ruled out because of ecological study design. Obtained results need to be confirmed in consecutive series of case-control and cohort studies. Extensive implementation of prophylactics of CM in the early 90-s made it possible to maintain the CM prevalence rates among newborns at the pre-accidental values. Currently over 30% of mandatory registered CM and about 20% of all CM in Belarus are registered among fetuses aborted for genetic reasons. Nevertheless, rather high level of CM prevalence in the republic insists farther improvement of the prophylactics of malformed children birth. For this purpose similar measures seems to be appropriate as for the residents of contaminated, as non-contaminated areas, since currently no substantial difference in time trends are traceable. The most perspective way of improvement of CM prenatal diagnostics is enlargement of the group of women that undergo ultrasound screening of I and II trimesters in specialized centers of prenatal diagnostics

  18. Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

    Directory of Open Access Journals (Sweden)

    Grill Franz

    2006-12-01

    Full Text Available Abstract Background Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. Case report We report a 12-year-old-female with progressive anterior vertebral fusion. This occurred at three vertebral levels. In the cervical spine there was progressive fusion of the lateral masses of the Axis with C3. Secondly, at the cervico-thoracic level, a severe, progressive, anterior thoracic vertebral fusion (C7-T5 and (T6-T7 resulted in the development of a thick anterior bony ridge and massive sclerosis and thirdly; progressive anterior fusion at L5-S1. Whereas at the level of the upper lumbar spines (L1 a split cord malformation was encountered. Situs inversus visceralis was an additional malformation. The role of the CT scan in detecting the details of the vertebral malformations was important. To our knowledge, neither this malformation complex and nor the role of the CT scan in evaluating these patients, have previously been described. Conclusion The constellations of the skeletal abnormalities in our patient do not resemble any previously reported conditions with progressive anterior vertebral fusion. We also emphasise the important role of computerized tomography in the investigation of these patients in order to improve our understanding of the underlying pathology, and to comprehend the various stages of the progressive fusion process. 3D-CT scan was performed to improve assessment of the spinal changes and to further evaluate the catastrophic complications if fracture of the ankylosed vertebrae does occur. We believe that prompt management cannot be accomplished, unless the nature of these bony malformations is clarified.

  19. Malformación adenomatoidea quística congénita Congenital cystic adenomatous malformation

    Directory of Open Access Journals (Sweden)

    PILAR ANTÓN-MARTÍN

    2011-04-01

    Full Text Available Introducción: La malformación adenomatoidea quística (MAQ es una entidad congénita poco frecuente debida a una alteración en el desarrollo alveolar pulmonar. Pacientes y Método: Se realizó un estudio descriptivo y retrospectivo de los recién nacidos con el diagnóstico prenatal de MAQ durante 6 años en un hospital terciario de Madrid (España. Resultados: Se encontraron un total de siete pacientes. Todos fueron recién nacidos a término de peso adecuado. Dos pacientes presentaron distress respiratorio al nacimiento. Dos radiografías de tórax fueron normales. En la tomografía axial (TAC, tres lesiones fueron MAQ y cuatro fueron su-gerentes de lesión híbrida. Todos se derivaron a centro con cirugía pediátrica para seguimiento. Discusión: Al nacimiento, esta patología puede permanecer asintomática y ser un hallazgo casual en una radiografía torácica. A largo plazo el riesgo de infección y malignización complican el manejo. El tratamiento conservador, que se dirige a pacientes asintomáticos, obliga a realizar controles seriados de las lesiones. El tratamiento quirúrgico se reserva para los pacientes con sintomatología o complicaciones postnatales. Conclusiones: El diagnóstico de sospecha prenatal de MAQ es fundamental dado que la clínica y radiología pueden ser normales en el período neonatal. Se debe realizar TAC torácico para confirmar la lesión y valorar futura cirugía. Se necesitan más estudios sobre el correcto diagnóstico y manejo de esta patología.Introduction: Congenital Cystic Adenomatous Malformation (CCAM is an infrequent entity due to an alteration in alveolar-pulmonary development. Material and Methods: A descriptive, retrospective study of newborns presenting CCAM in a tertiary care hospital in Madrid, Spain. Results: Seven patients were found. All were full term, normal weight births. Two patients showed respiratory distress at birth. Two chest x-rays were normal. CT scans showed three clear CCAM lesions, four suggestive of hybrid lesions. All were referred to medical centers with pediatric surgery for followup. Discussion: At birth, this pathology may be asymptomatic and appear as a chest x-ray finding. Long term management is complicated by infection and malignization. Conservative treatment of asymptomatic patients includes regular follow up of lesions. Surgical treatment is reserved for symptomatic or complicated patients. Conclusions: Prenatal suspicion of CCAM is important since clinical exam and radiology may be normal in neonatal period. Chest CT scans are important in confirming diagnosis and determining future surgery. More studies are necessary for the proper diagnosis and management of this disorder.

  20. Large congenital cystic asdenomatous malformation of the lung in a newborn

    Directory of Open Access Journals (Sweden)

    ?lyas Yolba?

    2013-12-01

    Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

  1. Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, A D; Hannerz, H

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression analyses, both crude and adjusted, indicated no associations between working under high strain and giving birth to a child with circulatory malformation (adjusted odds ratio [OR] 1.04, 95% confidence interval [95% CI] 0.75-1.44), musculoskeletal malformation (aOR 0.88, 95% CI 0.71-1.10) or any malformation (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. CONCLUSIONS: Association between exposure to high job strain during pregnancy and elevated risk of circulatory, muscle and any malformations is not supported by this study.

  2. Psychosocial job strain and risk of congenital malformations in offspring : a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, Allan Boye Vagn; Hannerz, H

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression analyses, both crude and adjusted, indicated no associations between working under high strain and giving birth to a child with circulatory malformation (adjusted odds ratio [OR] 1.04, 95% confidence interval [95% CI] 0.75-1.44), musculoskeletal malformation (aOR 0.88, 95% CI 0.71-1.10) or any malformation (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. CONCLUSIONS: Association between exposure to high job strain during pregnancy and elevated risk of circulatory, muscle and any malformations is not supported by this study.

  3. The multiple brain abscesses associated with congenital pulmonary arteriovenous malformations: a case report.

    OpenAIRE

    Han, Seok; Lim, Dong-jun; Chung, Yong-gu; Cho, Tai-hyoung; Lim, Seong-jun; Kim, Woo-jae; Park, Jung-yul; Suh, Jung-keun

    2002-01-01

    In this report, we describe a case of multiple brain abscesses associated with diffuse congenital pulmonary arteriovenous malformations (PAVM). Although the cases of brain abscesses associated with congenital PAVM are very rare, the brain abscess could be an initial clinical manifestation in asymptomatic PAVM as in the case presented in this report. PAVM may contribute to the development of a brain abscess by allowing easy bacterial access to systemic circulation through the right-to-left pul...

  4. Cardiopatias congênitas e malformações extracardíacas / Congenital heart defects and extracardiac malformations / Cardiopatías congénitas y malformaciones extracardiacas

    Scientific Electronic Library Online (English)

    Rosana Cardoso M., Rosa; Rafael Fabiano M., Rosa; Paulo Ricardo G., Zen; Giorgio Adriano, Paskulin.

    2013-06-01

    Full Text Available OBJETIVO: Revisar a associação entre cardiopatias congênitas e malformações extracardíacas. FONTES DE DADOS: A pesquisa incluiu artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se os descritores "congenital heart disease", "congenital heart defects", "congenital cardiac [...] malformations", "extracardiac defects" e "extracardiac malformations". Foram incluídos os artigos de séries de casos que exploravam especificamente a associação entre cardiopatias congênitas e malformações extracardíacas. SÍNTESE DOS DADOS: A cardiopatia congênita é responsável por cerca de 40% dos defeitos congênitos, sendo uma das malformações mais frequentes e a de maior morbimortalidade. Malformações extracardíacas são observadas em 7 a 50% dos pacientes com cardiopatia congênita, trazendo um risco ainda maior de comorbidade e mortalidade e tornando a cirurgia cardíaca mais arriscada. Diferentes estudos têm tentado avaliar a presença de anormalidades extracardíacas em pacientes portadores de cardiopatia congênita. Dentre as alterações descritas, destacam-se aquelas do trato urinário. Contudo, não houve um estudo que tenha avaliado do mesmo modo todos os pacientes. CONCLUSÕES: Anormalidades extracardíacas são frequentes em pacientes com cardiopatia congênita, sendo que os portadores de tais alterações podem apresentar um risco maior de morbimortalidade. Consequentemente, alguns autores vêm discutindo a importância e o custo-benefício da triagem destas crianças à procura de outras malformações por meio de exames complementares. Abstract in spanish OBJETIVO: Revisar la asociación entre cardiopatías congénitas y malformaciones extracardiacas. FUENTES DE DATOS: Se investigaron artículos científicos presentes en los portales Medline, Lilacs y SciELO, utilizándose los descriptores «congenital heart disease», «congenital heart defects», «congenital [...] cardiac malformations», «extracardiac defects» y «extracardiac malformations». Se incluyeron todos los artículos de casos que exploraban específicamente la asociación entre cardiopatías congénitas y malformaciones extracardiacas. SÍNTESIS DE LOS DATOS: La cardiopatía congénita es responsable por un 40% de los defectos congénitos, siendo una de las malformaciones más frecuentes y la de mayor morbimortalidad. Malformaciones extracardiacas se observan en 7 a 50% de los pacientes con cardiopatía congénita, trayendo un riesgo todavía más grande de comorbilidad y mortalidad y haciendo la cirugía cardíaca más arriesgada. Distintos estudios vienen intentando evaluar la presencia de anormalidades extracardiacas en pacientes portadores de cardiopatía congénita. Entre las alteraciones descriptas, se destacan aquellas del sistema urinario. Sin embargo, no hubo estudio que haya evaluado del mismo modo a todos los pacientes. CONCLUSIONES: Anormalidades extracardiacas son frecuentes en pacientes con cardiopatía congénita, siendo que los portadores de estas alteraciones pueden presentar un riesgo mayor de morbimortalidad. Por consiguiente, algunos autores vienen discutiendo la importancia y el costo-beneficio de la selección de estos niños en búsqueda de otras malformaciones por medio de exámenes complementares. Abstract in english OBJECTIVE: To review the association between congenital heart defects and extracardiac malformations. DATA SOURCES: Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malfor [...] mations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. DATA SYNTHESIS: Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringin

  5. Congenital malformations and damage in early infancy of the central nervous system

    International Nuclear Information System (INIS)

    Congenital malformations and cerebral damage in early infancy cause complex morphological and clinical changes. Modern imaging techniques, and especially NMR, have provided deeper knowledge of these diseases in the past few years. Based on the neuroradiological findings, the book presents a complete picture of congenital malformations of the central nervous systems and cerebral damage in early infancy; it describes the underlying pathomechanisms, clinical symptoms and therapies. Neurologists and neuropaediatricians are enabled to diagnose malformations correctly and to develop optimal therapy strategies in cooperation with other medical disciplines. Neuroradiologists and radiologists, on the other hand, will find a manual for correct interpretation and differential diagnosis of their findings and a guide for interpreting the findings and deciding further therapeutic or diagnostic interventions. (orig.)

  6. Risk of congenital malformations among children of construction painters in Denmark : a nationwide cohort study

    DEFF Research Database (Denmark)

    Tougaard, Ninna Hahn; Bonde, Jens Peter

    2015-01-01

    OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children. METHODS: National register data were used to link childbirths, malformations, and parental occupation. The cohort included >1,300,000 children born to occupationally active women in Denmark 1980-2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic regression with adjustment for potential confounders. RESULTS: Among 3444 children of female construction painters, we found no increased risk of malformations overall (126 cases, OR 0.88, 95% CI 0.74-1.05) or in organ-specific subgroups compared to children of women in all other occupations (55 045 cases). Sensitivity analyses restricted to severe malformations, children of maternal painters with ?2 years of pre-pregnancy exposure, and firstborn children, and analyses with maternal healthcare assistants and kitchen workers as reference supported the main results. Also, no associations were found when including diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female construction painters.

  7. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    Directory of Open Access Journals (Sweden)

    Demeneix Barbara

    2011-01-01

    Full Text Available Abstract Background The plastic monomer and plasticizer bisphenol A (BPA, used for manufacturing polycarbonate plastic and epoxy resins, is produced at over 2.5 million metric tons per year. Concerns have been raised that BPA acts as an endocrine disruptor on both developmental and reproductive processes and a large body of evidence suggests that BPA interferes with estrogen and thyroid hormone signaling. Here, we investigated BPA effects during embryonic development using the zebrafish and Xenopus models. Results We report that BPA exposure leads to severe malformations of the otic vesicle. In zebrafish and in Xenopus embryos, exposure to BPA during the first developmental day resulted in dose-dependent defects in otolith formation. Defects included aggregation, multiplication and occasionally failure to form otoliths. As no effects on otolith development were seen with exposure to micromolar concentrations of thyroid hormone, 17-ß-estradiol or of the estrogen receptor antagonist ICI 182,780 we conclude that the effects of BPA are independent of estrogen receptors or thyroid-hormone receptors. Na+/K+ ATPases are crucial for otolith formation in zebrafish. Pharmacological inhibition of the major Na+/K+ ATPase with ouabain can rescue the BPA-induced otolith phenotype. Conclusions The data suggest that the spectrum of BPA action is wider than previously expected and argue for a systematic survey of the developmental effects of this endocrine disruptor.

  8. A link between solar events and congenital malformations: Is ionizing radiation enough to explain it?

    CERN Document Server

    Overholt, A C; Atri, D

    2015-01-01

    Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes. Recent work has found a correlation between solar particle events and congenital malformations. In this work we use the results of computational simulations to approximate the ionizing radiation from such events as well as longer term increases in cosmic ray flux. We find that the amounts of ionizing radiation produced by these events are insufficient to produce congenital malformations under the current paradigm regarding muon ionizing radiation. We believe that further work is needed to determine the correct ionizing radiation contribution of cosmogenic muons. We suggest that more extensive measurements of muon radiation effects may show a larger contribution to ionizing radiation dose than currently assumed.

  9. Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

    LENUS (Irish Health Repository)

    Collins, Anne M

    2012-02-01

    Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

  10. Incidence of congenital malformation in 2 major hospitals in Rivers state of Nigeria from 1990 to 2003.

    Science.gov (United States)

    Ekanem, B; Bassey, I E; Mesembe, O E; Eluwa, M A; Ekong, M B

    2011-09-01

    Although congenital malformations are believed to be on the rise in the oil production areas of Nigeria, few baseline data are available. This retrospective study documented the incidence of congenital abnormalities in 2 major hospitals in Port Harcourt, an oil-rich city in Rivers state, Nigeria. Delivery and nursery records were reviewed from January 1990 to December 2003. In the first hospital 78 congenital anomalies were recorded out of 19 572 births (4.00/1000), principally affecting the central nervous system (1.84/1000) and skeletal system (1.74/1000). In the second hospital, 47 congenital anomalies were recorded out of 20121 births (2.20/1000), with malformations of the central nervous system (0.80/1000) and skeletal system (1.14/1000) again predominating. More research is needed into long-term trends in congenital malformations and possible associations with environmental pollution in Rivers state. PMID:22259922

  11. Case-control study of congenital malformations and occupational exposure to low-level ionizing radiation

    International Nuclear Information System (INIS)

    In a case-control study, the authors investigated the association of parental occupational exposure to low-level external whole-body penetrating ionizing radiation and risk of congenital malformations in their offspring. Cases and controls were ascertained from births in two counties in southeastern Washington State, where the Hanford Site has been a major employer. A unique feature of this study was the linking of quantitative individual measurement of external whole-body penetrating ionizing radiation exposure of employees at the Hanford Site, using personal dosimeters, and the disease outcome, congenital malformations. The study population included 672 malformation cases and 977 matched controls from births occurring from 1957 through 1980. Twelve specific malformation types were analyzed for evidence of association with employment of the parents at Hanford and with occupational exposure to ionizing radiation. Two defects, congenital dislocation of the hip and tracheoesophageal fistula, showed statistically significant associations with employment of the parents at Hanford, but not with parental radiation exposure. Neural tube defects showed a significant association with parental preconception exposure, on the basis of a small number of cases. Eleven other defects, including Down syndrome, for which an association with radiation was considered most likely, showed no evidence of such an association. When all malformations were analyzed as a group, there was no evidere analyzed as a group, there was no evidence of an association with employment of the parents at Hanford, but the relation of parental exposure to radiation before conception was in the positive direction (one-tailed p value between 0.05 and 0.10). Given the number of statistical tests conducted, some or all of the observed positive correlations are likely to represent false positive findings. 30 references

  12. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

    2005-12-01

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.

  13. An unusual prenatal manifestation of a huge congenital cystic adenomatoid malformation with favorable perinatal outcome

    OpenAIRE

    Suk, Hye-jin; Won, Hye-sung; Lee, Eun Jung; Lee, Mi-young

    2014-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare condition which is easily detectable by prenatal ultrasonography. Fetuses with large CCAMs associating with hydrops are predisposed to perinatal mortality, therefore prenatal intervention is required. While macrocystic CCAM is treated prenatally by thoracentesis or thoraco-amniotic shunt, microcystic or mixed CCAM is difficult to manage in the fetus. In these latter lesions, fetal lobectomy, sclerotherapy, or laser ablation was used ...

  14. Prevalence and pattern of congenital malformations among neonates in the neonatal unit of a teaching hospital

    International Nuclear Information System (INIS)

    Objective: To determine the prevalence and pattern of congenital malformations among neonates in a teaching hospital. Methods: The prospective hospital-based study was conducted over a period of 18 months in the neonatal unit of Combined Military Hospital, Kharian, from September 2011 to February 2013. All neonates from newborn to 28 days of age admitted to the unit irrespective of their condition comprised the study population. Neonatal examination was done by the Registrar at the time of admission followed by neonatologist/paediatrician. Information regarding gender, weight, gestational age, mode of delivery, consanguinity, maternal age, antenatal visit record and family history were recorded on a predesigned proforma. After clinical examination, if required, relevant investigations like ultrasonography, radiology, echocardiography, laboratory and genetic studies were done to confirm diagnosis. Data was statistically analysed by using SPSS 20. Results: Out of 3,210 total admissions, 226 (7%) neonates were congenitally malformed. Of them, 130 (57.52 %) were male and 96 (42.47 %) females. Among different body systems affected, anomalies related to the central nervous system were 46(20.35%) musculoskeletal 42(18.58%), genitourinary 34 (15.04%), cardiovascular system 30 (13.27%), ear, eye, face, neck 27(11.94%), digestive system 19 (8.40%), syndromes and skin 14 (6.19%) each. Conclusion: Congenital Malformations are not rare in our community and central nervous system is the most commonly affected system. Healthcare managers must stress upon primary prevention in the form of vaccination, nutrition and drugs to decrease preventable share of congenital malformations. (author)

  15. Images in Clinical Medicine Congenital Neural Malformations Related to Their Embryological Background

    OpenAIRE

    Bahnassy, Ahmed A.; Aly, Nehal N.

    2008-01-01

    Congenital neural malformations are complex anomalies, which stem from an abnormality in the embryological development of the nervous system. The development of the nervous system begins by the formation of the neural tube and its subsequent closure. The failure of closure results in neural tube defects (NTD). Defect in the formation of prosencehalon or rhombencephalon will result in holoprosencephaly or Dandy walker complex respectively. The formation of neuroblasts and their migration to ce...

  16. Spontaneous and radiation induced congenital malformations including their roles in miscarriages and stillbirths

    International Nuclear Information System (INIS)

    In the study described here an attempt was made to draw from a wide range of different sources data on the induction of congenital anomalies (malformations or defects existing at birth) by ionising and non-ionising rays during the various stages of gestation. This survey was chiefly based on findings in humans, results from animal experiments were solely included in cases where no suitable material was available for Man. (orig.)

  17. Exploratory Spatial Data Analysis of Congenital Malformations (CM) in Israel, 2000–2006

    OpenAIRE

    Ammatzia Peled; Michael Friger; Chava Peretz; Shai Linn; Keren Agay-Shay; Yona Amitai

    2013-01-01

    Congenital Malformations (CM) impose a heavy burden on families and society. Identification of spatial patterns of CM is useful for understanding the epidemiology of this public health issue. In Israel, about 1,000,000 births and 25,000 CM cases at 37 groups were geocoded during 2000–2006. These were geo-analyzed using global-Moran’s-I statistics. Eight groups demonstrated geospatial heterogeneity and were further analyzed at both the census tract (Local Indicator of Spatial Association (...

  18. Gastrointestinal system malformations in children are associated with congenital heart defects

    Directory of Open Access Journals (Sweden)

    Utku Arman Örün

    2011-03-01

    Full Text Available Objective: To determine the frequency of congenital heart defects (CHD in children with gastrointestinal malformations (GISM and mortality rates in patients with GISM. Methods: Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Results: Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8% were male and 107 (44.2% were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%, atresia involving stomach, ileum or colon (21% and esophageal atresia/tracheoesophageal fistula (18.3%. Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9% a, ventricular septal defect (17 patients, 24.6% and patent ductus arteriosus (5 patients, 7.2%. There was no significant difference (p>0.05 in mortality rate in patients with CHD (16.7% and without CHD (13.3% undergoing operations for GISM. Conclusion: We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

  19. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  20. Malformaciones congénitas en Chile.: Un problema emergente (período 1995-1999) / Frequency of congenital malformations in Chilean hospitals in the period 1995-1999

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Teresa, Aravena C; Lucía, Cifuentes O.

    2001-08-01

    Full Text Available [...] Abstract in english Background: The Latin American collaborative study of congenital malformations (ECLAMC) is a surveillance program designed to monitor the frequency of congenital malformations and detect abrupt changes in their frequency, look for the cause of such change and implement primary prevention measures. A [...] im: To construct a secular trend curve with the frequency of congenital malformations in Chile. Material and methods: Using the ECLAMC protocol, every malformed newborn or stillbirth, weighting more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Using the gathered data, secular trend curves of congenital malformations were constructed. Results: Between 1982 and 1999, there is a secular tendency in the rate of congenital malformations and maternal age, with a correlation coefficient of 0.8 and slope of 13.5 (p

  1. Malformações congênitas do pâncreas: um caso clínico / Congenital pancreas malformations: a clinical case report

    Scientific Electronic Library Online (English)

    Ana, Bento; Hamilton, Baptista; Fernando, Oliveira.

    2013-02-01

    Full Text Available OBJETIVO: Este trabalho tem por objetivo fazer uma revisão da malformação congênita denominada de agenesia dorsal do pâncreas (ADP) e de outras malformações congênitas pancreáticas, com base em um caso clínico raro e exemplar da problemática das malformações pancreáticas. Pretende-se rever a informa [...] ção mais recente publicada na literatura nacional e internacional acerca das malformações congênitas pancreáticas e investigar a diversidade de formas de apresentação clínica da ADP e de outras malformações congênitas do pâncreas. Pretende-se saber em que situações há indicação terapêutica, qual a altura mais adequada de intervir, quais as modalidades disponíveis para o tratamento médico e ou cirúrgico das malformações congênitas pancreáticas. RESULTADOS: A ADP é uma malformação muito rara que surge durante a organogênese. Nas últimas décadas, foi produzido um volume importante de informação genética e embriológica que ajuda a compreender as causas das malformações pancreáticas. As malformações pancreáticas têm de ser estudadas e compreendidas no seu conjunto. CONCLUSÃO: A malformação pancreática é uma causa de pancreatite aguda e crônica no adulto, pouco estudada. A possibilidade da existência de malformações pancreáticas deve estar sempre presente em doentes com pancreatite aguda ou crônica sem causa evidente. Abstract in english OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP) and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and [...] international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify which situations have therapeutic indication, the most appropriate time to institute treatment, and the currently available medical or surgical treatment of pancreatic congenital malformations. RESULTS: ADP is a very rare malformation that occurs during organogenesis. In the last decades, a large volume of embryological and genetic information has been obtained, helping to understand the causes of pancreatic malformations, which must be studied and understood as a whole. CONCLUSION: Pancreatic malformations are infrequently studied causes of acute and chronic pancreatiWtis in adults. The possibility of pancreatic malformations should always be considered in patients with acute or chronic pancreatitis with no evident cause.

  2. Congenital cystic adenomatoid malformation of lung in adults: 2 rare cases report and review of the literature

    Directory of Open Access Journals (Sweden)

    Feng Anning

    2012-04-01

    Full Text Available Abstract Congenital cystic adenomatoid malformation (CCAM, also named congenital pulmonary airway malformation (CPAM, is a congenital abnormality of lung which is uncommon in adults. Here we present 2 adult cases of CCAM with unusual clinical and pathologic findings. One case was complicated with aspergillosis which was seldom reported. The other case was suffered bilateral lesions and the patient's mother had been previously radiographically discovered bilateral cystic lesions that CCAM could not be ruled out. A review of currently published related literatures has also been provided. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/6406766736634578.

  3. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2006-07-15

    The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

  4. Fragile X syndrome in two siblings with major congenital malformations

    Energy Technology Data Exchange (ETDEWEB)

    Giampietro, P.F.; Haas, B.R.; Lipper, E. [Cornell Univ. Medical Center, New York, NY (United States)] [and others

    1996-05-17

    We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2{1/2}, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46,XY chromosome constitution in both siblings. By PCR and Southern blot analysis, the siblings were found to have large triplet repeat expansions in the fragile X gene (FMR 1) and both had methylation mosaicism. Enzyme kinetic studies of iduronate sulfatase demonstrated a two-fold increase in activity in the first sib as compared to the second. Possible mechanisms through which the fragile X mutation can cause down-regulation of adjacent loci are discussed. 24 refs., 4 figs.

  5. Congenital heart malformations induced by hemodynamic altering surgical interventions

    Directory of Open Access Journals (Sweden)

    SandraRugonyi

    2014-08-01

    Full Text Available Embryonic heart formation results from a dynamic interplay between genetic and environmental factors. Blood flow during early embryonic stages plays a critical role in heart development, as interactions between flow and cardiac tissues generate biomechanical forces that modulate cardiac growth and remodeling. Normal hemodynamic conditions are essential for proper cardiac development, while altered blood flow induced by surgical manipulations in animal models result in heart defects similar to those seen in humans with congenital heart disease. This review compares the altered hemodynamics, changes in tissue properties, and cardiac defects reported after common surgical interventions that alter hemodynamics in the early chick embryo, and shows that interventions produce a wide spectrum of cardiac defects. Vitelline vein ligation and left atrial ligation decrease blood pressure and flow; and outflow tract banding increases blood pressure and flow velocities. These three surgical interventions result in many of the same cardiac defects, which indicate that the altered hemodynamics interfere with common looping, septation and valve formation processes that occur after intervention and that shape the four-chambered heart. While many similar defects develop after the interventions, the varying degrees of hemodynamic load alteration among the three interventions also result in varying incidence and severity of cardiac defects, indicating that the hemodynamic modulation of cardiac developmental processes is strongly dependent on hemodynamic load.

  6. Evidence that Cache Valley virus induces congenital malformations in sheep.

    Science.gov (United States)

    Chung, S I; Livingston, C W; Edwards, J F; Crandell, R W; Shope, R E; Shelton, M J; Collisson, E W

    1990-02-01

    An outbreak of congenital abnormalities occurred in sheep at San Angelo, Texas, between December 1986 and February 1987. Of 360 lambs born, 19.2% had arthrogryposis or other musculo-skeletal problems and hydranencephaly (AGH), and the total neonatal loss was 25.6%. In 1987, all ewes that were tested with AGH lambs had antibody to Cache Valley virus (CVV), whereas 62% of the ewes with normal lambs had CVV-specific antibody. Pre-colostral serum samples from AGH lambs had neutralizing antibody to CVV. An increase in prevalence of CVV-specific antibody, from 5% during the spring of 1986 to 63.4% during the winter of 1987, occurred during a time that included the gestation of these affected lambs, as well as a period of increased rainfall. The isolation of a CVV-related strain from a sentinel sheep in October 1987 confirmed the continued presence of this virus in the pasture where this outbreak occurred and provided a recent field strain for future studies. PMID:2107620

  7. A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult

    Directory of Open Access Journals (Sweden)

    Enuh HA

    2014-03-01

    Full Text Available Hilary A Enuh,1 Edward L Arsura,2 Zaza Cohen,3 Keith T Diaz,2 Jay M Nfonoyim,2 Phillip J Cosentino,2 Jessie K Saverimuttu4 1Department of Internal Medicine, Richmond University Medical Center, Staten Island, NY, USA; 2Pulmonary and Critical Care Medicine, Richmond University Medical Center, Staten Island, NY, USA; 3Pulmonary and Critical Care Medicine, Rutgers, The State University of New Jersey, New Jersey Medical School, Newark, NJ, USA; 4Infectious Disease Control Unit, Richmond University Medical Center, Staten Island, NY, USA Abstract: Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM, is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. Keywords: CPAM, aspergillosis, embolization

  8. Congenital Lobar Emphysema Associated with Cystic Adenomatoid Malformation Type I: Case Report

    International Nuclear Information System (INIS)

    Congenital lung abnormalities are a heterogeneous group of alterations in lung development, and many of them are asymptomatic, but is important to know, they must enter the differential diagnosis of patients respiratory distress syndrome. Some of these lesions can coexist, the point where the pulmonary sequestration may present with adenomatoid malformation cystic type II in over 50% of cases. Although the final diagnosis for this histological type of injury is, images play an important role for initial approach. Natural history of these malformations depends lung the size of the lung mass and physiological problem that this causes. The CT multidetector computed expanded knowledge of lung anatomy and improves visualization of the tracheobronchial tree in the pediatric population.

  9. Prevalence at birth of congenital malformations in communities near the Hanford site

    International Nuclear Information System (INIS)

    The authors examined the prevalence of congenital malformations among births in Benton and Franklin counties, in southeastern Washington State, from 1968 through 1980. The Hanford Site is in this area and serves as a major employer. In addition, various agriculturally and chemically related activities are in the area. Hospital and vital records were used to identify 454 malformation cases among 23,319 births; this yielded a malformation rate of 19.6 per 1000 births, a rate similar to those reported in other studies. The rates of specific malformations ascertained during the first year of life were compared with combined rates from the states of Washington, Oregon, and Idaho from the Birth Defects Monitoring Program. Among defects that would be expected to be comparably ascertained, a statistically significant elevated rate of neural tube defects was observed (1.72 per 1000 births vs. 0.99 per 1000). Rates of cleft lip were significantly lower in Benton and Franklin counties than in the Birth Defects Monitoring Program (0.59 per 1,000 vs. 1.17 per 1000). For congenital heart defects, pyloric stenosis, and Down syndrome, which are often not diagnosed in the newborn period, Birth Defects Monitoring Program data did not offer appropriate comparisons. The rates of these defects did not appear to be elevated in relation to rates found in other relevant populations. When rates of neural tube defects were compared with those in populations other than the Birth Defects Monitortions other than the Birth Defects Monitoring Program, the Benton and Franklin county rates were still considered to be elevated. The increased bicounty rate cannot be explained by employment of the parents at Hanford or by the impact of plant emissions on the local population

  10. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  11. Chromosomal investigations in patients with mental retardation and/or congenital malformations

    Directory of Open Access Journals (Sweden)

    C.B. Santos

    2000-12-01

    Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18% representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

  12. Chromosomal investigations in patients with mental retardation and/or congenital malformations

    Scientific Electronic Library Online (English)

    C.B., Santos; R.T., Boy; J.M., Santos; M.P.S., Silva; M.M.G., Pimentel.

    2000-12-01

    Full Text Available Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados [...] por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18%) representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas. Abstract in english We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. [...] Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

  13. Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Owada, Keiho; Miyazaki, Osamu; Nosaka, Shunsuke [National Center for Child Health and Development, Department of Radiology, Tokyo (Japan); Matsuoka, Kentaro [National Center for Child Health and Development, Department of Pathology, Tokyo (Japan); Sago, Haruhiko [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2015-05-01

    Congenital pulmonary airway malformation (CPAM) is classified into pathologically different types. These types are sometimes distinguishable by fetal lung MRI and are usually observed as higher-signal lesions on T2-weighted images than normal lung. We describe a case of unusual CPAM resembling neoplasms, with a lower signal than is found in normal lung. Histopathology showed a large number of mucogenic cells but found no evidence that could explain this feature on fetal MRI. An unusual low-signal mass associated with a pulmonary cyst in fetal lung on MRI may suggest an unusual type 1 CPAM. (orig.)

  14. Congenital malformation of the vaginal orifice, imperforate vagina, in the common marmoset (Callithrix jacchus).

    Science.gov (United States)

    Niimi, Kimie; Oguchi, Ayaka; Nishio, Kenji; Okano, Yasushi; Takahashi, Eiki

    2015-04-01

    The following is a report on a congenital vaginal malformation, imperforate vagina, in the common marmoset (Callithrix jacchus). This anomaly was observed for the first time in an adult female in our research colony. There was no uterine and vaginal aplasia or atresia in her grossly normal genital tract. The plasma progesterone concentration suggested that the ovarian cycle had ceased. However, this may not be related to a functional anomaly, but rather to suppressed ovulation resulting from subordination to cagemates considering the various stages of follicular development observed. PMID:25391536

  15. An unusual prenatal manifestation of a huge congenital cystic adenomatoid malformation with favorable perinatal outcome.

    Science.gov (United States)

    Suk, Hye-Jin; Won, Hye-Sung; Lee, Eun Jung; Lee, Mi-Young

    2014-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare condition which is easily detectable by prenatal ultrasonography. Fetuses with large CCAMs associating with hydrops are predisposed to perinatal mortality, therefore prenatal intervention is required. While macrocystic CCAM is treated prenatally by thoracentesis or thoraco-amniotic shunt, microcystic or mixed CCAM is difficult to manage in the fetus. In these latter lesions, fetal lobectomy, sclerotherapy, or laser ablation was used to treat lesions directly. We present an unusual prenatal case of mixed CCAM associating with hydrops and marked ascites, which was conservatively managed with prenatal abdomino-amniotic shunting and successfully treated by postnatal surgery. PMID:24596822

  16. Electroencephalography in congenital malformations of the central nervous system Electroencefalografia en las malformaciones congénitas del sistema nervioso central

    OpenAIRE

    Patrícia Campos; Guillermo Cruz; Rodolfo Lizarraga; Ernesto Bancalari; Daniel Guillen; Carlos Castañeda

    1994-01-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a ...

  17. Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.

    Science.gov (United States)

    Fukami, Maki; Ogata, Tsutomu

    2014-12-01

    Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a newly characterized disorder. PORD is caused by homozygous or compound heterozygous mutations in POR encoding an electron donor for several microsomal enzymes such as CYP21A2, CYP17A1, CYP19A1, CYP51A1, and CYP26A1-C1. Molecular defects of PORD include a Japanese founder mutation p.R457H, as well as various missense, nonsense, frameshift, and splice-site mutations and exonic deletions. PORD leads to unique skeletal malformations referred to as Antley-Bixler syndrome, in addition to 46,XX and 46,XY disorders of sex development, pubertal failure, adrenal dysfunction, and maternal virilization during pregnancy. Such clinical features are ascribable to impaired activities of the POR-dependent microsomal enzymes. PORD represents one form of congenital adrenal hyperplasia, although it can occur as a congenital malformation syndrome and a disorder of sex development. Phenotypic severity of PORD is highly variable and only partly depends on the residual activity of the mutant proteins. It is possible that PORD remains undiagnosed in several patients. Detailed hormonal assessment and molecular analysis are useful for diagnosis of PORD. PMID:25294558

  18. Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm : a controlled national cohort study

    DEFF Research Database (Denmark)

    Fedder, J; Loft, A

    2013-01-01

    Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after ICSI with ejaculated sperm, IVF and natural conception (NC)?

  19. Fetal Deaths and Congenital Malformations in Progenies of Iranian Chemical Victims

    Directory of Open Access Journals (Sweden)

    DD Farhud

    2011-09-01

    Full Text Available

    Background: The goal of the present study was to report the results of two parallel works in which the incidence of fetal deaths and also congenital malformations among the progenies of the Iranian chemical victims were studied.

    Methods: The subjects were progenies of a randomly selected population from survivors of chemical attacks during Iran-Iraq conflict. Totally 807 male cases ranged 18-85 years old (average=33.5 were included in the test. They were married and had been injured at lea t once with chemical warfare; all of them had been brought back to their normal voiding condition.

    Results: The selected subjects were categorized into case and control groups: children were born after and before their parents being injured chemically, respectively. The incidence of fetal deaths and congenital malformations in these two groups were significantly different (P < 0.05.

    Conclusion: Parental exposure to chemical weapons may be associated with an increased risk for some congenital malformations.

  20. Malformaciones congénitas y patología crónica de la madre.: Estudio ECLAMC 1971-1999 / Association between congenital malformations and chronic diseases of the mother

    Scientific Electronic Library Online (English)

    María Paz, Ordóñez A; Julio, Nazer H; Alfredo, Aguila R; Lucía, Cifuentes O.

    2003-04-03

    Full Text Available [...] Abstract in english Background: Several maternal diseases, such as diabetes mellitus or high blood pressure, are associated with a higher risk for fetal or neonatal problems. Aim: To study the association between chronic diseases of the mother and congenital malformations. Material and methods: Review of the records of [...] the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at the University of Chile Clinical Hospital. A sample of 383 mothers with a chronic disease was compared with 297 healthy mothers. The presence of congenital malformations in the newborns was studied. The odds ratio (OR) of a mother to have a child with a congenital malformation was calculated. Results: Mothers with bronchial asthma, diabetes mellitus, hypertension and hypothyroidism had an OR over 1 of having a child with a congenital malformation. No association between maternal obesity and offspring malformations was observed. Offspring of diabetic mothers had 8.95 times more probabilities of having a major malformation and 4.95 times more probabilities of having a minor defect. Conclusions: Offspring of mothers with diabetes mellitus, bronchial asthma, hypertension or hypothyroidism have a higher risk of presenting a congenital malformation, when compared with offspring of healthy mothers (Rev Méd Chile 2003; 131: 404-11).

  1. Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection.

    Science.gov (United States)

    Bosnjak, Vlatka Mejaski; Dakovi?, Ivana; Duranovi?, Vlasta; Luji?, Lucija; Krakar, Goran; Marn, Borut

    2011-01-01

    Congenital cytomegalovirus (CMV) infection is the most common vertically transmitted disease with the rate of the infection ranging from 0.2 to 2.4% in newborn infants. Congenital CMV infection causes multiorgan affection, but the most severe and permanent sequelae are those affecting central nervous system such as mental retardation, cerebral palsy, sensorineural hearing loss, chorioretinitis and seizures as a result of direct interference of the virus with neurogenesis. The time of acquiring infection is strongly connected to the level of child's disability. Infection in early pregnancy results in severe neurological sequelae, while later infection has less prominent signs. Radiological findings show connection between onset of infection and brain imaging, from lissencephaly, pachygyria, polymicrogyria, schizencephaly, calcification, cerebellar hypoplasia and/or hypoplasia/agenesis of corpus callosum as a result of an early infection, to white matter abnormalities including disturbed myelination as a result of a late infection. We present nine patients with proven congenital CMV infection and malformations of cortical development and their computed tomography/magnetic resonance (CT/MRI) findings along with clinical assessments. According to CT/MRI results we assume that two of our children with lissencephaly had an early onset of infection. The other seven with less severe cortical dysplasia in form of pachy/polymicrogyria were probably infected later Cerebellar hypoplasia and/or calcifications in our patients also confirm an early onset of infection. Developmental outcome in all of our children was poor: moderate to severe psychomotor retardation has been diagnosed in all children; five of them have developed cerebral palsy (four have bilateral spastic and one dyskinetic) and one is estimated to have minor motor dysfunction. Seven out of nine developed epilepsy, chorioretinitis was found in three of them and sensorineural deafness in two of them. All of our children, except one, were presented by symptomatic infection, yet only four of them were recognized at birth. Therefore, congenital CMV infection should be considered as one of the reasons for childhood disability more often. PMID:21648339

  2. Case studies in X-ray diagnosis and clinical significance of congenital malformations of celiac trunk

    International Nuclear Information System (INIS)

    Case histories are presented of the most frequently occurring congenital malformations of truncus celiacus. In addition to the variations in the origin and the course of vessels of tripus Halleri, there are frequent hypoplasias of vessels and orficial compressions, caused by an anomalous course of ligamentum arcuatum. Attention is also drawn to the evaluation of the importance of vascular anomalies from the point of view of blood circulation changes detected by angiography, used until recently also in clinical practice. In the last years digital subtration angiography and ultrasonography in combination with the method of duplex scanning-excercise Doppler, replace classical abdominal angiography and objectively image regional hypoperfusion of organs in cases of clinically uncertain abdominal symptomatology. (author). 7 figs., 15 refs

  3. Alcohol, tabaco y malformaciones congénitas labioalveolopalatinas / Alcohol, tobacco and congenital alveolar cleft palate malformations

    Scientific Electronic Library Online (English)

    Grethel, Cisneros Domínguez; Ana Ibis, Bosch Núñez.

    1293-12-01

    Full Text Available Actualmente, las drogas como el alcohol y el tabaco constituyen un grave problema de salud,pues además de ocasionar trastornos psicológicos, están relacionadas con lesiones orgánicas que, en muchos casos, llegan a ser irreversibles. Se realizó esta comunicación breve para mostrar las principales mal [...] formaciones congénitas, entre ellas las fisuras labiopalatinas, provocadas por el uso de estas drogas durante la etapa de gestación Abstract in english Currently, drugs such as alcohol and tobacco constitute a serious health problem, because besides causing psychological dysfunctions, they are related to organic lesions which, in many cases, become irreversible. A brief communication was carried out to show the main congenital malformations, among [...] them cleft lip and palate, caused by the use of these drugs during pregnancy

  4. Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.

    Science.gov (United States)

    He, Jie; McDermott, Deborah A; Song, Yan; Gilbert, Fred; Kligman, Isaac; Basson, Craig T

    2004-04-01

    Holt-Oram syndrome (HOS) is a multiple malformation syndrome associated with congenital heart malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound prediction of an individual's phenotype. Although preimplantation genetic diagnosis (PGD) has been applied to complex disorders with some cardiovascular manifestations, its utility in Mendelian CHM has not been previously demonstrated. We tested whether PGD and in vitro fertilization (IVF) technology, including oocyte donation, can identify fertilized eggs affected by HOS for potential embryo selection. Five donor oocytes were fertilized in vitro with sperm from a HOS patient heterozygous for a Glu69ter-TBX5 mutation and then underwent embryo biopsy and genotyping. One carried the Glu69ter-TBX5 mutation; all others had wildtype genotypes. Two wildtype blastocysts were transferred to the mother, and the resulting singleton pregnancy was successfully delivered. Mutational analysis of fetal amniocytes and postpartum umbilical cord blood confirmed PGD. Fetal ultrasonography as well as postpartum electrocardiography and echocardiography also validated accurate prediction of normal skeletal and cardiac phenotypes. We conclude that PGD is an effective reproductive strategy for HOS patients. As more genetic etiologies for CHM are identified, application of PGD as adjunctive therapy to IVF will be increasingly available to prevent transmission of such diseases from affected parents to their children. Clinical application of PGD must balance the benefits of avoiding disease transmission with the medical risks and financial burdens of IVF. PMID:15039979

  5. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

    Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in females 30.40.Conclusion: This report documents the prevalence estimates for birth defects reported in the hospital discharge data. These estimates are important to 1 plan for health-care and education needs of the Ecuadorian population, 2 identify increased occurrences of birth defects in specific geographic regions, 3 serve as a reference point for assessment of provincial surveillance systems, 4 evaluate national public health interventions, 5 compare Ecuador prevalence estimates with those of other countries, and 6 help determine the appropriate allocation of resources for basic and public health research. There is an urgent need to establish a National Registry of Birth Defects involving different sources of information such as prenatal medical records, birth records and medical records during the first year of life at an early stage, and surveys on cytogenetic prenatal diagnostic surveys and cytogenetics of therapeutic abortions.Keywords: Ecuador, genetics, birth defects surveillance, database, prevalence, epidemiology, congenital malformations

  6. Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation : A Register-Based Nationwide Cohort Study

    DEFF Research Database (Denmark)

    Andersen, Jon Trærup; Petersen, Morten

    2013-01-01

    Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth from 1997 to 2004. All women with at least one prescription of trimethoprim dispensed during the 12 weeks before conception were identified. Results. There was a doubling of congenital malformations in offspring to women exposed to trimethoprim in the 12 weeks before conception. The adjusted odds ratio (OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim during the 12 weeks before conception and an increased risk of heart and limb defects.

  7. La edad paterna como factor de riesgo para malformaciones congénitas Paternal age as a risk factor for congenital malformations

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2008-02-01

    Full Text Available The role of advanced maternal age as a risk factor for congenital malformations in offspring is known. However, the influence of paternal age is not clear. Aim: To evaluate the association between advanced paternal age and the risk for congenital malformations. Patients and Methods: Analysis of maternal and paternal age of cases (malformed newborns and controls from ECLAMC Database (Latin American Collaborative Study of Congenital Malformations registered at the University of Chile Clinical Hospital during the decade from Jan 1 1997 to Dec 31 2006. Newborns and stillborns were grouped according to maternal age into 6 intervals. In each interval, paternal ages of cases and controls were compared. The inverse procedure was performed to assess maternal age effect. Other variables as gestational age and birth weight were analyzed for the intervals of maternal and paternal ages. Results: No significant differences were observed in paternal age between cases and controls in any of the intervals of maternal age. However, mean maternal age was higher for cases than for controls (p =0,0149. Gestational age and birth weight depend more on being case or control than on the age of parents. Conclusions: No differences in paternal age were observed between cases and controls in this series of newborns

  8. Congenital malformations in sheep resulting from in utero inoculation of Cache Valley virus.

    Science.gov (United States)

    Chung, S I; Livingston, C W; Edwards, J F; Gauer, B B; Collisson, E W

    1990-10-01

    Serologic evidence indicated that an episode of congenital abnormalities in sheep was caused by Cache Valley virus (CVV), a bunyavirus indigenous to the United States. To determine the teratogenic potential of CVV in sheep, fetuses were infected in utero between 27 and 54 days of gestation with an isolate (CK-102) obtained in 1987 from a sentinel sheep in San Angelo, Texas. The dams of these fetuses were euthanatized between 28 and 75 days after inoculation, and the fetuses were examined for malformations. Twenty-eight of 34 fetuses had congenital abnormalities, including arthrogryposis, hydranencephaly, mummification, reabsorption, and oligohydroamnion. Virus was isolated from the allantoic fluid of 11 of 17 fetuses euthanatized at less than 70 days of gestation. The virus-positive fetuses, which were all negative for CVV-neutralizing antibody, had lesions ranging from none to severe arthrogryposis and hydranencephaly. Virus was not recovered from the allantoic fluid of fetuses after 76 days' gestation when CVV-specific antibody could be detected in 5 of 8 fetuses examined. The 2 fetuses infected on days 50 and 54 of gestation appeared normal and 1 had antibody to CVV. PMID:2122779

  9. Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL. A case with multiple congenital malformations: VACTERL association.

    Directory of Open Access Journals (Sweden)

    Silvia Cristina Martínez Rueda, MD*

    2011-01-01

    Full Text Available La asociación VACTERL es un conjunto de malformaciones congénitas que ocurre en varias combinaciones, entre las cuales encontramos: malformaciones Vertebrales, atresia Anal, anomalías Cardiovasculares, fistula Traqueo esofágica, atresia Esofágica, malformaciones Renales y displasia de las extremidades (Limb, fundamentalmente en el hueso radial. Para su diagnóstico se requiere la presencia de, al menos, tres de los siete criterios enumerados y se realiza por medio de ecografía a partir de la semana 18 de gestación. Aun no se ha reconocido etiología específica para esta patología; se cree que es producto de una influencia teratogénica entre la cuarta y octava semana de gestación. El pronóstico de estos pacientes es muy pobre, ya que fallece el 50-85% de los niños en el primer año de vida, sobreviviendo después del primer año de vida solo un 12-15%. [Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL. MedUNAB 2011; 14:132-137]. ______________________________________________________________________VACTERL association is a group of birth defects occurring in various combinations, among which are: vertebral anomalies, anal atresia, cardiac defects, tracheo-oesophageal fistula with esophageal atresia, renal defects and limb dysplasia, mainly in the radial bone. To diagnostic is necessary at least three of the seven criteria listed and is performed by ultrasound after 18 weeks of gestation. Although no specific etiology has been recognized for this condition, is believed to be the result of undefined teratogenic influence acting between the fourth and eighth weeks of gestation. Prognosis for these patients is very poor, and who died on 50-85% of children in the first year and surviving after the first year of life only 12-15%. [Martínez S, Rincón L, Rueda F. A case with multiple congenital malformations: VACTERL association. MedUNAB 2011; 14:132-137

  10. Clinical application of the amplatzer vascular plug in the embolization of vascular malformations associated with congenital heart diseasee

    International Nuclear Information System (INIS)

    Objective: To evaluate the clinical efficacy of percutaneous transcatheter embolization by using Amplatzer vascular plug (AVP) for the treatment of vascular malformations associated with congenital heart diseases. Methods: During the period of June 2006-June 2008, 12 patients with congenital heart disease accompanied by vascular malformations received transcatheter occlusion of the anomalous vessels with AVP. The vascular malformations included solitary or multiple saccular pulmonary arteriovenous malformation (n = 7), coronary artery fistula (n = 2) and major aortopulmonary collaterals concomitant with severe Fallot' s tetralogy (n = 3). All patients were screened with transthoracic echocardiography (TTE) and thoracic CT angiography (CTA), and all the diagnoses were confirmed by routine cardioangiography. Results: Transcatheter occlusion of vascular malformations with AVP was successfully accomplished in all 12 patients. An angiographic check immediately after the procedure showed that complete occlusion was obtained in all patients and no embolism,migration or residual shunt were seen. Sixteen anomalous vessels were occluded. The mean internal diameter of these vessels was (5.2 ± 1.9) mm,while the mean diameter of AVP used was (9.2 ± 2.4) mm. After the operation (mean 3 months), the follow-up echocardiography and/or thoracic CT angiography showed that in all patients the occlusion remained in satisfactory condition and no residual shunt was found. Conclusions: Persidual shunt was found. Conclusions: Percutaneous transcatheter closure of congenital vascular malformations with AVP is technically feasible and clinically effective, this treatment can markedly improve patient's living quality and it is well worth extending its clinical application. (authors)

  11. Malformaciones Congénitas: Aspectos Generales y Genéticos Congenital Malformations: General and Genetic Aspects

    Directory of Open Access Journals (Sweden)

    Mariana Rojas

    2012-12-01

    Full Text Available Los defectos del desarrollo se pueden deber a malformaciones congénitas, deformaciones o disrupciones. El 10% de las malformaciones se atribuyen a causas ambientales el 25% a factores genéticos y el 65% a factores desconocidos probablemente de orden multifactorial. Existe un período de mayor susceptibilidad frente a los teratógenos que corresponde a la etapa donde se están formando la mayoría de los órganos y sistemas. La ingestión de plantas teratogénicas puede dar lugar a anomalías congénitas en los fetos de animales. Los pesticidas como DDT, la contaminación de las aguas por mercurio y los disruptores endocrinos afectan la embriogénesis de las distintas especies del reino animal. También se consideran como factores causantes de malformaciones a los agentes ambientales infecciosos y a algunos medicamentos. Los agentes físicos como los aumentos de temperatura, las condiciones de hipoxia y las radiaciones afectan a distintos organismos, desde los peces al ser humano. La genética de las malformaciones ha sido difícil de establecer, principalmente porque la mayor parte de ellas se caracteriza por presentar manifestaciones fenotípicas diversas, que en muchos casos aparentemente no están relacionadas y que son variables para los individuos afectados. Por otra parte, los estudios realizados indican que frecuentemente, en la determinación genética de las malformaciones participan varios genes y las interacciones de éstos con el ambiente, aunque determinaciones monogénicas se han podido establecer para unos pocos casos. Ilustramos aquí estos dos tipos contrastantes de determinación genética, a través de la descripción de los factores genéticos que estarían involucrados en los defectos del tubo neural y en el síndrome de CHARGE, respectivamente.Developmental defects may be due to congenital malformations, deformations or disruptions; 10% of malformations are caused by environmental factors, 25% by genetics factors and 65% are due to unknown multifactorial problems. There is a developmental period of greater susceptibility to teratogens, which corresponds to the stages when most organs and systems are being formed. Ingestions of teratogenics plants may result in congenital anomalies in animal foetuses. Pesticide such as DDT, water contamination with the Hg and the endocrine disrupters affect embryogenesis of different animal species. As factors that provoke malformations there are environmental agents, infections and some drugs. Physical agents such as increased temperature, hypoxic conditions and radiation, affect different organisms from fishes to human. Genetic of malformations have been difficult to establish, mainly because most of them are characterized by diverse phenotypic aspects, apparently not related and variable for the different affected organisms. On the other hand, studies realized indicate that frequently in the genetic determination of malformations several genes and their interactions with the environment are involved, although it has been possible to establish monogenic determination for a few cases. Here we contrast these two types of genetic determination, describing the genetic factors involved in the neural tube defects and the CHARGE syndrome, respectively.

  12. Malformaciones Congénitas: Aspectos Generales y Genéticos / Congenital Malformations: General and Genetic Aspects

    Scientific Electronic Library Online (English)

    Mariana, Rojas; Laura, Walker.

    2012-12-01

    Full Text Available Los defectos del desarrollo se pueden deber a malformaciones congénitas, deformaciones o disrupciones. El 10% de las malformaciones se atribuyen a causas ambientales el 25% a factores genéticos y el 65% a factores desconocidos probablemente de orden multifactorial. Existe un período de mayor suscept [...] ibilidad frente a los teratógenos que corresponde a la etapa donde se están formando la mayoría de los órganos y sistemas. La ingestión de plantas teratogénicas puede dar lugar a anomalías congénitas en los fetos de animales. Los pesticidas como DDT, la contaminación de las aguas por mercurio y los disruptores endocrinos afectan la embriogénesis de las distintas especies del reino animal. También se consideran como factores causantes de malformaciones a los agentes ambientales infecciosos y a algunos medicamentos. Los agentes físicos como los aumentos de temperatura, las condiciones de hipoxia y las radiaciones afectan a distintos organismos, desde los peces al ser humano. La genética de las malformaciones ha sido difícil de establecer, principalmente porque la mayor parte de ellas se caracteriza por presentar manifestaciones fenotípicas diversas, que en muchos casos aparentemente no están relacionadas y que son variables para los individuos afectados. Por otra parte, los estudios realizados indican que frecuentemente, en la determinación genética de las malformaciones participan varios genes y las interacciones de éstos con el ambiente, aunque determinaciones monogénicas se han podido establecer para unos pocos casos. Ilustramos aquí estos dos tipos contrastantes de determinación genética, a través de la descripción de los factores genéticos que estarían involucrados en los defectos del tubo neural y en el síndrome de CHARGE, respectivamente. Abstract in english Developmental defects may be due to congenital malformations, deformations or disruptions; 10% of malformations are caused by environmental factors, 25% by genetics factors and 65% are due to unknown multifactorial problems. There is a developmental period of greater susceptibility to teratogens, wh [...] ich corresponds to the stages when most organs and systems are being formed. Ingestions of teratogenics plants may result in congenital anomalies in animal foetuses. Pesticide such as DDT, water contamination with the Hg and the endocrine disrupters affect embryogenesis of different animal species. As factors that provoke malformations there are environmental agents, infections and some drugs. Physical agents such as increased temperature, hypoxic conditions and radiation, affect different organisms from fishes to human. Genetic of malformations have been difficult to establish, mainly because most of them are characterized by diverse phenotypic aspects, apparently not related and variable for the different affected organisms. On the other hand, studies realized indicate that frequently in the genetic determination of malformations several genes and their interactions with the environment are involved, although it has been possible to establish monogenic determination for a few cases. Here we contrast these two types of genetic determination, describing the genetic factors involved in the neural tube defects and the CHARGE syndrome, respectively.

  13. Lumbo-Costo-Vertebral Syndrome with Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Lucky Gupta

    2014-02-01

    Full Text Available Lumbo-costo-vertebral syndrome (LCVS is a set of rare abnormalities involving vertebral bodies, ribs, and abdominal wall. We present a case of LCVS in a 2-year-old girl who had a progressive swelling over left lumbar area noted for the last 12 months. Clinical examination revealed a reducible swelling with positive cough impulse. Ultrasonography showed a defect containing bowel loops in the left lumbar region. Chest x-ray showed scoliosis and hemivertebrae with absent lower ribs on left side. Meshplasty was done.

  14. Lumbo-costo-vertebral syndrome with congenital lumbar hernia.

    Science.gov (United States)

    Gupta, Lucky; Mala, Tariq Ahmed; Gupta, Rahul; Malla, Shahid Amin

    2014-01-01

    Lumbo-costo-vertebral syndrome (LCVS) is a set of rare abnormalities involving vertebral bodies, ribs, and abdominal wall. We present a case of LCVS in a 2-year-old girl who had a progressive swelling over left lumbar area noted for the last 12 months. Clinical examination revealed a reducible swelling with positive cough impulse. Ultrasonography showed a defect containing bowel loops in the left lumbar region. Chest x-ray showed scoliosis and hemivertebrae with absent lower ribs on left side. Meshplasty was done. PMID:24834386

  15. Malformações congênitas em ruminantes no semiárido do Nordeste Brasileiro Congenital malformations in ruminants in the semiarid of the Brazilian Northeast

    Directory of Open Access Journals (Sweden)

    Antônio Flávio M Dantas

    2010-10-01

    Full Text Available Malformações congênitas causadas pela ingestão de Mimosa tenuiflora têm sido observadas em ruminantes no semiárido do Nordeste Brasileiro. Neste trabalho foram estudadas as malformações congênitas em ruminantes diagnosticadas entre 2000 e 2008, em municípios da Paraíba, Pernambuco e Rio Grande do Norte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48% foram dignosticados como malformações congênitas. Com base no tipo de malformação e na procedência do animal as malformações foram divididas em: 1 causadas pelo consumo de M. tenuiflora; e 2 malformações esporádicas, sem causa conhecida. De 418 materiais de ovinos, 21 corresponderam a malformações, sendo 18 (4,3% do total de materiais de malformações causadas por M. tenuiflora e 3 (0,71% de malformações esporádicas. De 434 materiais de bovinos, 14 foram diagnosticados como malformações, sendo 8 (1,84% causadas por M. tenuiflora e 6 (1,38% malformações esporádicas. De 495 materiais de caprinos, 12 apresentaram malformações, sendo 9 (1,81% causadas pela ingestão de M. tenuiflora e 3 (0,6% malformações esporádicas. As principais malformações causadas por M. tenuiflora foram artrogripose, micrognatia, palatosquise, microftalmia e hipoplasia ou aplasia unilateral ou bilateral dos ossos incisivos. As malformações esporádicas incluiram: acefalia e hermafroditismo, dicefalia e malformações de vasos intestinais em ovinos; atresia anal em três caprinos; e hidranencefalia, atresia anal, malformações de costelas com eventração, hipoplasia cerebelar e hidrocefalia, coristoma pulmonar e meningocele, e gêmeos siameses em bovinos. O caso de hipoplasia cerebelar com hidrocefalia foi negativo pela imuno-histoquímica para o vírus da diarreia viral bovina. Malformações congênitas causadas por M. tenuiflora ocorreram durante todo o ano. A maior frequência em ovinos está aparentemente associada ao consumo da planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga.Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Grande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48% out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1 caused by the ingestion of M. tenuiflora, and 2 sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3% of malformations caused by M. tenuiflora and 3 (0.71% of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84% were caused by M. tenuiflora and 6 (1.38% were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81% malformations related with the ingestion of M. tenuiflora and 3 (0.6% sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with hydrocephalus was negative on immunohistochemistry to bovine viral diarrhea virus. Malformations caus

  16. Cancer Risks in Parents Who had a Child with a Congenital Malformation

    DEFF Research Database (Denmark)

    Sun, Yuelian; Overvad, Kim

    2013-01-01

    Cancer risk in parents may be related to congenital malformations (CMs) in their children if they share genetic susceptibility or environmental exposure that may be teratogenic and carcinogenic. We conducted a population-based cohort study based on Danish register data. We identified 795,607 mothers and 781,424 fathers who had all their children between 1977 and 2007 in Denmark. Information on CM was obtained from the Danish Hospital Registry and information on cancer was obtained from the Danish Cancer Registry. Parents were followed from the birth of their first child until the diagnosis of cancer, death, emigration, or December 31, 2007. We used Cox regression models to estimate hazard ratios (HRs) for cancer including cancer in specific organs in mothers and fathers. Overall, 75,701 (9.5%) mothers and 72,724 (9.3%) fathers had at least one child diagnosed with CMs within the first year of life. Neither mothers (HR = 1.04; 95% CI: 0.99-1.04) nor fathers (HR = 1.03; 95% CI: 0.98-1.09) who had a child with aCM had a higher overall risk of cancer. Mothers (HR = 0.76, 95% CI: 0.58-1.00) or fathers (HR = 0.89, 95% CI: 0.66-1.19) who had a child with a chromosomal malformation had a lower overall cancer risk. The findings also showed a higher risk for some specific types of cancer in parents who had children with a CM in the specific system. Some, or perhaps all, of these findings may be due to chance caused by multiple comparisons. We present all results on paper or online to provide clues for further research and to avoid publication bias.

  17. A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi Arabia

    International Nuclear Information System (INIS)

    Objective was to estimate the incidence of major and minor congenital malformations among live born infants at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Estimation of risk factors was also evaluated. Between March 2004 and May 2005, a total of 5356 babies born at King Abdulaziz University Hospital, were enrolled in this study for malformations. Details of cases were recorded after parent's interviews, clinical, radiological and laboratory evaluations. One hundred and forty-seven (27.06/1000 livebirth) and 13 (2.39/1000 birth) stillbirth have congenital anomalies. In all livebirth, incidences of major anomalies were 93.9% and minor were 6.1%. Mothers of 95.9% with congenital malformation were healthy, 3.4% were diabetic and 0.7% had cardiac malformation. In 38.8% of cases parents were consanguineous. Among the liveborn births, the most common system involved was cardiovascular (7.1/1000), followed by musculoskeletal/limb (4.1/1000), external genitilia (2.8/1000), urinary (2.6/1000),multiple chromosomal (2.2/1000), orofacial (1.9/1000), central nervous system (1.9/1000), skin (1.7/1000), multiple single gene (1.3/1000), multiple sequence (0.75/1000), eyes (0.56/1000), unclassified (0.19/1000), musculoskeletal/abdominal (0.19/1000), endocrine (0.19/1000). High incidence of major malformation was found in Jeddah. Importance of Genetic Counseling is revealed in our study since more than three quarters of mothers were under 36 years and may well plan future e under 36 years and may well plan future pregnancies. (author)

  18. Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report

    OpenAIRE

    Sountoulides P; Zachos I; Paschalidis K; Asouhidou I; Fotiadou A; Bantis A; Palasopoulou M; Podimatas T

    2008-01-01

    Abstract Introduction Congenital renal arteriovenous malformations (AVMs) are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive hematuria and flank pain. CT sc...

  19. Major congenital malformations and residential proximity to a regional industrial park including a national toxic waste site: An ecological study

    OpenAIRE

    Polyakov Marina; Bilenko Natasha; Belmaker Ilana; Hershkovitz Reli; Kordysh Ella; Bentov Yaakov; Sarov Batia

    2006-01-01

    Abstract Background Public concern about exposure to emissions from the regional industrial park (IP), including 17 chemical plants and the national industrial toxic waste site, initiated this study of the possible association between major congenital malformations (MCM) and residence near the IP in Israel's Southern District. Methods The study was conducted during the period 1995–2000 and included 63,850 deliveries. Data on deliveries and MCM detected at births were obtained from the regio...

  20. Malformações congênitas em ruminantes no semiárido do Nordeste Brasileiro / Congenital malformations in ruminants in the semiarid of the Brazilian Northeast

    Scientific Electronic Library Online (English)

    Antônio Flávio M, Dantas; Franklin, Riet-Correa; Rosane M.T, Medeiros; Glauco José N. de, Galiza; Luciano da A, Pimentel; Bruno L. dos, Anjos; Rinaldo A, Mota.

    2010-10-01

    Full Text Available Malformações congênitas causadas pela ingestão de Mimosa tenuiflora têm sido observadas em ruminantes no semiárido do Nordeste Brasileiro. Neste trabalho foram estudadas as malformações congênitas em ruminantes diagnosticadas entre 2000 e 2008, em municípios da Paraíba, Pernambuco e Rio Grande do No [...] rte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48%) foram dignosticados como malformações congênitas. Com base no tipo de malformação e na procedência do animal as malformações foram divididas em: 1) causadas pelo consumo de M. tenuiflora; e 2) malformações esporádicas, sem causa conhecida. De 418 materiais de ovinos, 21 corresponderam a malformações, sendo 18 (4,3% do total de materiais) de malformações causadas por M. tenuiflora e 3 (0,71%) de malformações esporádicas. De 434 materiais de bovinos, 14 foram diagnosticados como malformações, sendo 8 (1,84%) causadas por M. tenuiflora e 6 (1,38%) malformações esporádicas. De 495 materiais de caprinos, 12 apresentaram malformações, sendo 9 (1,81%) causadas pela ingestão de M. tenuiflora e 3 (0,6%) malformações esporádicas. As principais malformações causadas por M. tenuiflora foram artrogripose, micrognatia, palatosquise, microftalmia e hipoplasia ou aplasia unilateral ou bilateral dos ossos incisivos. As malformações esporádicas incluiram: acefalia e hermafroditismo, dicefalia e malformações de vasos intestinais em ovinos; atresia anal em três caprinos; e hidranencefalia, atresia anal, malformações de costelas com eventração, hipoplasia cerebelar e hidrocefalia, coristoma pulmonar e meningocele, e gêmeos siameses em bovinos. O caso de hipoplasia cerebelar com hidrocefalia foi negativo pela imuno-histoquímica para o vírus da diarreia viral bovina. Malformações congênitas causadas por M. tenuiflora ocorreram durante todo o ano. A maior frequência em ovinos está aparentemente associada ao consumo da planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga. Abstract in english Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Gr [...] ande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48%) out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1) caused by the ingestion of M. tenuiflora, and 2) sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3%) of malformations caused by M. tenuiflora and 3 (0.71%) of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84%) were caused by M. tenuiflora and 6 (1.38%) were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81%) malformations related with the ingestion of M. tenuiflora and 3 (0.6%) sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with hydrocephalus was negative on immunohistochemist

  1. Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos / Oculo-auriculo-vertebral spectrum in patients with congenital heart defects / Espectro óculo-aurículo-vertebral en pacientes con defectos cardíacos congénitos

    Scientific Electronic Library Online (English)

    Rafael Fabiano Machado, Rosa; Paulo Ricardo Gazzola, Zen; José Antônio Monteiro, Flores; Eliete, Golendziner; Carlo Benatti, Pilla; Tatiana, Roman; Marileila, Varella-Garcia; Giorgio Adriano, Paskulin.

    2010-10-01

    Full Text Available FUNDAMENTO: Há poucos estudos avaliando a frequência do espectro óculo-aurículo-vertebral (EOAV) nos pacientes com defeitos cardíacos congênitos (DCC). OBJETIVO: Verificar a frequência do EOAV em uma amostra de pacientes com malformações cardíacas graves. MÉTODOS: Avaliamos uma coorte prospectiva de [...] pacientes com DCC, admitidos em uma unidade de terapia intensiva (UTI) cardiopediátrica no Brasil. O diagnóstico de EOAV foi feito com base em dados clínicos, considerando critérios padrões. Os pacientes que preenchiam esses critérios foram submetidos ao cariótipo de alta resolução com bandamento GTG e hibridização fluorescente in situ para a microdeleção 22q11.2. O teste exato de Fisher (P Abstract in spanish FUNDAMENTO: Hay pocos estudios evaluando la frecuencia del espectro óculo-aurículo-vertebral (EOAV) en los pacientes con defectos cardíacos congénitos (DCC). OBJETIVO: Verificar la frecuencia del EOAV en una muestra de pacientes con malformaciones cardíacas graves. MÉTODOS: Evaluamos una cohorte pro [...] spectiva de pacientes con DCC, admitidos en una unidad de terapia intensiva (UTI) cardiopediátrica en el Brasil. El diagnóstico de EOAV fue hecho con base en datos clínicos, considerando criterios estándares. Los pacientes que llenaban esos criterios fueron sometidos al cariotipo con bandeamiento GTG en alta resolución e Hibridización fluorescente in situ para la microdelección 22q11.2. El Test Exacto de Fisher (P Abstract in english BACKGROUND: There have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE: To verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS: We evaluated a prospective cohort [...] of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The diagnosis of OAVS was made based on the clinical data, considering standard criteria. The patients that met these criteria were submitted to high resolution GTG-Banding karyotype and fluorescence in situ hybridization for 22q11.2 microdeletion. Fisher's exact test (P

  2. A prospective study on congenital malformations in the high background radiation areas of Kerala

    International Nuclear Information System (INIS)

    Hospital based epidemiological study on congenital anomalies carried out in the high level natural radiation (HLNR) areas of southern Kerala since 1995 to assess the hereditary effects, if any, of HLNR is reported here. Thorium, Uranium to a limited extent, and corresponding decay products in the natural deposits of monazite sand is the source of radiation. HLNR and normal level natural radiation (NLNR) areas are interwoven due to the patchy and non-uniform distribution of monazite in the region. Areas with a mean dose of more than 1.5 mGy/year were treated as HLNR areas and those with 1.5 mGy/year or less, as NLNR. High population density, limited migration, ethnic diversity, good literacy, health awareness, institutionalized births and acceptance of small family norm are some of the key features of the population. The comparison of individual malformation in HLNR and NLNR areas are presented and efforts are on to accrue sufficient sample size to enable the comparison

  3. Prevalence of congenital malformations in the vicinity of nuclear plants: data from the Central-East France registry

    International Nuclear Information System (INIS)

    To study the prevalence of malformations around the nuclear power plants in the Rhone-Alps region and compare it with their distribution in other parts of the region monitored by the registry. Methods: Municipalities with fewer than 50,000 inhabitants surrounding the 5 nuclear plants in operation from 1979 through 2002 were studied. Every municipality situated near a nuclear site (n=121) was assigned an exposure index, which we estimated from the distance between the municipality and the plant. A Poisson model and a reference population, defined as the 2154 municipalities in the region situated farther than 10 km from a nuclear plant were used to calculate relative risks for congenital malformations, after adjustment for year of birth, maternal age, district of birth, population density, average family income, and presence of chemical plants subject to E U Seveso regulations. Results: Significant differences were not observed for either gene/chromosome anomalies (p=0.50) or minor malformations (p=0.14). Risks for overall malformations and those defined as major non-syndromic appear to be reduced in areas less than 5 km from nuclear plants (RR=0.75 and RR=0.71, respectively). The only comparison showing a higher rate of malformations in populations living near nuclear sites involved rural communities situated 5 to 10 km from a plant (RR=1.41 for the major non-syndromic malformations and 1.31 for all malformations). Conclusion: These results may be random or may be explThese results may be random or may be explained by exposure to the plants, but a more likely explanation is the existence of confounding factors for which we could not adjust, such as road traffic for urban communities and pesticides in rural ones. (author)

  4. Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008 / Congenital malformations in Latin America in the period 1995-2008

    Scientific Electronic Library Online (English)

    JULIO, NAZER H; LUCÍA, CIFUENTES O.

    2011-01-01

    Full Text Available [...] Abstract in english Background: The Latin American Study of Congenital Malformations (ECLAMC) hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: [...] To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3%) were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%), followed by Colombia (23%). Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14%), followed by Uruguay (13%). However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000). Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.

  5. Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008 Congenital malformations in Latin America in the period 1995-2008

    Directory of Open Access Journals (Sweden)

    JULIO NAZER H

    2011-01-01

    Full Text Available Background: The Latin American Study of Congenital Malformations (ECLAMC hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3% were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%, followed by Colombia (23%. Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14%, followed by Uruguay (13%. However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000. Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.

  6. Congenital malformations, stillbirths, and early mortality among the children of atomic bomb survivors: A reanalysis

    International Nuclear Information System (INIS)

    Of all the data sets pertinent to the estimation of the genetic risks to humans following exposure to ionizing radiation, potentially the most informative is that composed of the cohort of children born to atomic bomb survivors. We present here an analysis of the relationship between parental exposure history and untoward pregnancy outcomes within this cohort, using to the fullest extent possible the recently revised estimates of the doses received by their parents, the so-called DS86 doses. Available for study are 70,073 terminations, but DS86 doses have not been or presently cannot be computed on the parents of 14,770. The frequency of untoward pregnancy outcomes, defined as a pregnancy terminating in a child with a major congenital malformation, and/or stillborn, and/or dying in the first 14 days of life, increases with combined (summed) parental dose, albeit not significantly so. Under a standard linear model, when the sample of observations is restricted to those children whose parents have been assigned the newly established DS86 doses (n = 55,303), ignoring concomitant sources of variation and assuming a neutron RBE of 20, the estimated increase per sievert in the predicted frequency of untoward outcomes is 0.00354 (+/- 0.00343). After adjustment for concomitant sources of variation, the estimated increase per sievert in the proportion of such births is 0.00422 (+/- 0.00342) if the neutron RBE is assumed to be 20. A one-hit model with appropriate adjustments fo-hit model with appropriate adjustments for extraneous sources of variation results in an almost identical value, namely, 0.00412 (+/- 0.00364)

  7. The imaging manifestation of congenital cystic adenomatoid malformation of the lung in children

    International Nuclear Information System (INIS)

    Objective: To describe the imaging manifestation in 8 cases of congenital cystic adenomatoid malformation of the lung in children (CCAM) in order to improve the recognition. Methods: Seven males and 1 female were reported, and the mean age was 3 years 10 months. The complaints were cough, fever, and chest distress repeated for 4 days to 8 years. Chest films and CT scan were performed in all cases before operation and three of them were examined by high-resolution CT. All cases were confirmed by operation and pathology as CCAM. Results: (1) On chest films, 4 cases showed single or multiple large air cystic lesions (> 3 cm in diameter), one case only showed localized hazy and curl-like markings, and 3 cases showed honeycomb-like small cystic lesions (< 3 cm in diameter). All cases were complicated with emphysema on affected side. 6 cases showed pulmonary hernia of mediastinum. (2) On CT scan, each lung were involved in 4 cases, 2 cases showed large air cyst (almost 9 cm in diameter), 2 cases showed roundness thin-wall air cystic lesions (3.8-5.6 cm in diameter), and 4 cases showed multiple irregular small air cystic lesions (0.2-3.2 cm in diameter) and adenoid change. The cysts were filled with air but with small amount of liquid in only 3 cases. All lesions showed obvious space occupying sign. (3) The pathologic findings, the cyst was paraplasmic glandular or bronchiolar structures, cyst wall was lined with ciliated pseudo-stratified columnar epithelium in 3 cases and tified columnar epithelium in 3 cases and lined by cuboids to columnar epithelium in 5 cases. The cyst wall contained smooth muscle and elastic tissue. Cartilage plates were not present in all cases. Conclusion: Imaging examination is a reliable method in diagnosing CCAM. It can provide the diagnosis in location and quality. CT scan can improve the detection rate of CCAM

  8. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

    Directory of Open Access Journals (Sweden)

    Cakan Nedim

    2009-12-01

    Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

  9. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Peter Agergaard

    2011-02-01

    Full Text Available Peter Agergaard1, Anders Hebert2, Jesper Bjerre3, Karina Meden Sørensen4, Charlotte Olesen3, John Rosendal Østergaard31Department of Pediatrics, Viborg Hospital, Viborg, Denmark; 2Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark; 3Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark; 4Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, DenmarkIntroduction: The present study was conducted to establish the positive predictive value of congenital cardiac malformation diagnoses registered in the Danish National Patient Registry (NPR, thereby exploring whether the NPR can serve as a valid tool for epidemiologic studies of congenital cardiac malformations.Materials and methods: The study population comprised every individual born from 2000 to 2008 who was registered in the NPR with a congenital cardiac malformation diagnosis and treated at one of the two national departments of pediatric cardiology. Positive predictive values were established comparing NPR information with the clinical record of each individual.Results: A total of 2952 patients with a total of 3536 diagnoses were eligible for validation. Review of their clinical records unveiled no patient without cardiac malformation. In 98% (98%–99% of the cases, the NPR diagnosis could be found as the discharge diagnosis in the patient's clinical record, and in 90% (89%–91% of the cases the NPR diagnosis was considered a true reflection of the patient's actual malformation.Conclusions: Our study verifies that the present study population retrieved from the NPR is a valid tool for epidemiological research within the topic of congenital cardiac malformations, given that the research question is not dependent on a fully established sensitivity of the NPR. Precautions should be made regarding cardiac malformations characterized by low prevalence or poor predictive values, and the reported validity should not be extrapolated beyond the study period.Keywords: congenital cardiac malformation, registry, validation

  10. Metal-based particles in human amniotic fluids of fetuses with normal karyotype and congenital malformation-a pilot study.

    Science.gov (United States)

    Barošová, H; Dvo?á?ková, J; Motyka, O; Kutláková, K Mamulová; Peikertová, P; Rak, J; Bielniková, H; Kukutschová, J

    2015-05-01

    This study explores the inorganic composition of amniotic fluid in healthy human fetuses and fetuses with congenital malformation with a special attention to presence of metal-based solid particles. Amniotic fluid originates from maternal blood and provides fetus mechanical protection and nutrients. In spite of this crucial role, the environmental impact on the composition of amniotic fluid remains poorly studied. The samples of human amniotic fluids were obtained by amniocentesis, including both healthy pregnancies and those with congenital malformations. The samples were analysed using several techniques, including Raman microspectroscopy, scanning electron microscopy with energy-dispersed spectrometry (SEM-EDS), Fourier transform infrared spectroscopy (FTIR) and X-ray diffraction (XRD) analysis. Several metal-based particles containing barium, titanium, iron, and other elements were detected by SEM-EDS and Raman microspectroscopy. XRD analysis detected only sodium chloride as the main component of all amniotic fluid samples. Infrared spectroscopy detected protein-like organic components. Majority of particles were in form of agglomerates up to tens of micrometres in size, consisting of mainly submicron particles. By statistical analysis (multiple correspondence analysis), it was observed that groups of healthy and diagnosed fetuses form two separate groups and therefore, qualitative differences in chemical composition may have distinct biological impact. Overall, our results suggest that metal-based nanosized pollutants penetrate into the amniotic fluid and may affect human fetuses. PMID:25561252

  11. Transarterial embolization of congenital pelvic arteriovenous malformation in a male (a case report and review of the literature)

    International Nuclear Information System (INIS)

    A case of congenital pelvic arteriovenous malformation in a 41-years-old male treated by successful transarterial embolization was reported. This patient suffered from adult polycystic kidney disease and unknown reason for gross hematuria for four years. His left kidney was resected one year ago for suspected left nephrorrhagia but the hematuria remained. MRI examination of pelvis demonstrated AVM involving extensively the pelvic soft tissue, bladder and seminal vesicles. Bilateral internal iliac arterial angiography by DSA showed congenital pelvic arteriovenous malformations (CPAVM), the fringy anisotrophy vascular plexus supplied by many feeding arteries and drained into bilateral dilated and tortuous internal iliac venous branches. Super-selective catheterization and embolization for eight supplying blood branches, such as bilateral internal pudendal arterial branches, right obturator arterial branches, fight inferior gluteal arterial branches, left superior vesical artery, left inferior vesical artery, spermatocyst artery and right lateral sacral artery etc, were carried out successfully with gelfoam sponge or PVA particulates in one time. His urine turned clear on the same day after arterial embolization, and no gross hematuria occurred during 6-months follow-up. The pelvic arterial angiography with embolization is extremely effective for the diagnostic and therapeutic measure of CPAVM. (authors)

  12. Exposure to fluconazole and risk of congenital malformations in the offspring: A systematic review and meta-analysis.

    Science.gov (United States)

    Alsaad, Abdulaziz M S; Kaplan, Yusuf C; Koren, Gideon

    2015-04-01

    Vulvovaginal candidiasis (VVC) affects up to 75% of women at least once during their lifetime, mostly during the reproductive age, and recurrence rate is about 50%. Because half of all pregnancies are unplanned and pregnant women have an increased risk of VVC recurrence, the likelihood of inadvertently being exposed to fluconazole in pregnancy is increased. Thus, we aimed to examine the risk of congenital malformations in the offspring of women exposed to fluconazole in the first trimester of pregnancy. The rate for overall malformations was 1.10 (95% CI 0.98-1.25), for heart defect was 1.29 (95% CI 1.05-1.58), for craniofacial defects was 1.25 (95% CI 0.88-1.77), and for limb/musculoskeletal defects was 0.82 (95% CI 0.59-1.13). In conclusion, the use of fluconazole in the first trimester does not appear to increase the overall risk for congennital malformations. More studies are needed to address the potential increased rate of heart defects. PMID:25724389

  13. Interrupção da gravidez por malformação congénitica: a perspectiva da mulher / Pregnancy interruption due to congenital malformation: the woman's perspective

    Scientific Electronic Library Online (English)

    Lucília, Sousa; M. Graça, Pereira.

    Full Text Available O presente estudo pretende conhecer a experiência da interrupção terapêutica da gravidez, por malformação congénita, do ponto de vista das mulheres que a vivenciaram. Para a realização deste estudo, recorreu-se a uma metodologia qualitativa (Grounded Theory). A amostra, constituída por 18 mulheres, [...] resultou de uma amostragem intencional, sendo a recolha de dados realizada através de entrevista semi­ estruturada. Os resultados do estudo apontaram a interrupção de gravidez por malformação congénita, como uma experiência emocionalmente intensa. A notícia do diagnóstico de uma malformação foi recebida com choque e surpresa. A tomada de decisão de prosseguir ou interromper a gravidez foi considerada a mais difícil da vida do casal pela ambivalência de sentimentos e dilemas morais que produziu. Conhecer as reacções das mães, as razões e dificuldade na decisão representa, para os profissionais envolvidos no processo, uma oportunidade de definirem estratégias de aconselhamento e suporte facilitadoras do processo decisório. Abstract in english The present study aims to understand the experience of therapeutic pregnancy interruption, due to congenital malformation, according to mother’s perspective. For this study, a qualitative methodology (Grounded Theory) was chosen. The sample, composed of 18 women was the result of an intentional samp [...] ling and the data was collected through semi-structured interviews. The results of the study revealed the interruption of pregnancy, due to congenital malformation, as an emotional intense experience. The news of the diagnosis of a malformation was received with shock and surprise. The decision to continue or to interrupt the pregnancy was considered the most difficult in the couple’s life due to the ambivalence of feelings and moral dilemmas it produced. Understand mother’s reactions and the reasons and difficulties in the decision regarding pregnancy interruption represents for the professionals involved in the process, a chance to define strategies to facilitate counseling and support in the decision process.

  14. Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development

    International Nuclear Information System (INIS)

    Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.)

  15. Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jequier, S.; Kozlowski, K.

    1987-07-01

    Two strikingly similar infant siblings showed the following pattern of anomalies: unusual cranio-facial appearance, arthrogryposis, advanced bone age of the hips and unique skeletal X-ray abnormalities. They represent a previously unrecognised, fatal malformation syndrome.

  16. Tratamento cirúrgico das malformações pulmonares congênitas em pacientes pediátricos / Surgical treatment of congenital lung malformations in pediatric patients

    Scientific Electronic Library Online (English)

    Hylas Paiva da Costa, Ferreira; Gilberto Bueno, Fischer; José Carlos, Felicetti; José de Jesus Peixoto, Camargo; Cristiano Feijó, Andrade.

    2010-04-01

    Full Text Available OBJETIVO: Determinar as principais malformações congênitas pulmonares e os principais métodos diagnósticos utilizados, assim como as indicações de tratamento cirúrgico e os seus resultados em um serviço de referência de cirurgia torácica pediátrica. MÉTODOS: Foram revisados 52 prontuários de pacient [...] es com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de 2006. Os critérios de exclusão foram idade > 12 anos e dados clínicos incompletos. A amostra final foi composta de 35 pacientes. RESULTADOS: Nesta amostra, a média de idade foi de 31 meses, com predominância do sexo masculino (n = 21). Os achados anatomopatológicos foram malformação adenomatoide cística (n = 14), enfisema lobar congênito (n = 13), sequestro pulmonar (n = 8), e malformação arteriovenosa (n = 1). A ressecção mais comum foi a lobectomia inferior esquerda (25,71%), seguida por diferentes tipos de segmentectomia (22,85%), lobectomia superior esquerda (22,85%), lobectomia superior direita (14,28%), lobectomia inferior direita (8,57%) e lobectomia média (5,71%). Dos 35 pacientes, 34 (97,14%) foram submetidos à drenagem pleural fechada, com tempo médio de permanência do dreno torácico de 3,9 dias. Dez pacientes (28,5%) apresentaram complicações pós-operatórias. Não houve óbitos nesta série. CONCLUSÕES: A ressecção pulmonar para o tratamento das malformações pulmonares é um procedimento seguro, apresentando baixa morbidade e nenhuma mortalidade em um serviço de referência para doenças pulmonares. Abstract in english OBJECTIVE: To determine the main congenital lung malformations treated and the principal diagnostic methods employed, as well as the indications for surgical treatment and the results obtained, at a referral facility for pediatric thoracic surgery. METHODS: We reviewed the medical charts of 52 patie [...] nts anatomopathologically diagnosed with congenital lung malformations and who had been submitted to pulmonary resection between January of 1997 and December of 2006. Exclusion criteria were age > 12 years and incomplete clinical data. The final sample comprised 35 patients. RESULTS: In this sample, the mean age was 31 months, and there was a predominance of males (n = 21). The anatomopathological findings were cystic adenomatoid malformation (n = 14), congenital lobar emphysema (n = 13), pulmonary sequestration (n = 8) and arteriovenous malformation (n = 1). The most common type of lung resection was left lower lobectomy (in 25.71%) followed by different types of segmentectomy (in 22.85%), left upper lobectomy (in 22.85%), right upper lobectomy (in 14.28%), right lower lobectomy (in 8.57%) and middle lobectomy (in 5.71%). Of the 35 patients, 34 (97.14%) were submitted to closed pleural drainage, with a mean duration of thoracic drainage of 3.9 days. Ten patients (28.5%) presented with postoperative complications. There were no deaths in our sample. CONCLUSIONS: Pulmonary resection for the treatment of congenital lung malformations is a safe procedure, presenting low morbidity and no mortality at a referral facility for pediatric thoracic surgery.

  17. STUDY ABOUT INCIDENCE OF CONGENITAL BONY ABNORMALITIES IN A POPULATION WITH MENTAL DEFICIENCY

    OpenAIRE

    Ioana Mihaela Tomulescu

    2003-01-01

    This study is about the incidence of congenital bony abnormalities in a population with mental deficiency. Is known that genetic disorders cause mental disorders and malformative disorders, including bony abnormalities. The most often observed congenital abnormalities are:congenital hip sprain, flat foot, club foot, equin foot and congenital vertebral column disorders. We studied 596 children interned in in Neurology and Psychiatry Clinical Hospital of Oradea between 1999 and 2001 period. In...

  18. Prevalencia al nacimiento de malformaciones congénitas en hijos de madres adolescentes. Hospital Clínico Universidad de Chile: Período 2002-2011 / Congenital malformations among newborns of teenage mothers

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O.

    1300-13-01

    Full Text Available [...] Abstract in english Background: The Chilean Ministry of Health has reported a meaningful increase of births from teenager mothers (aged less than 20 years) in the period 1990-2008. On the contrary, there was a decrease of births from teenage mothers at The University of Chile Clinical Hospital (HCUCH). Aim: To compare [...] the prevalence rates at birth of congenital malformations (CMF) in newborns from mothers younger than 20 with those of mothers between 20 and 34 years old. Patients and Methods: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) data base of the HCUCH, since 1969 was analyzed. The last ten years (2002-2011) were studied. Results: There were 15,636 births in the period studied, 153 of them were stillbirths (0.97%). There were 1174 newborns from teenage mothers, 82 of them had one or more congenital malformations (7%). We found an association between smoking and drug consumption in mothers and CMF in their newborns. Conclusions: The rate of congenital malformations among offspring of teenage mothers is lower than the rate for mothers between 20 and 34 years old.

  19. Detection of Silent Homozygous Polymorphism in Exon 4 of SLC35A3 Gene in a Holstein Cattle Carrier for Complex Vertebral Malformation

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    Rosaiah Kotikalapudi, Rajesh K Patel*, Phani Sri S Sunkara and Arpita Roy

    2013-04-01

    Full Text Available The complex vertebral malformation (CVM syndrome is a congenital autosomal recessively inherited disorder first observed in Danish Holsteins. It is caused by a point mutation (G?T at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3. Bovine SLC35A3 plays a vital role in the development of the axial skeleton. The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP methods. Our results show that one out of 60 bulls tested exhibited polymorphism (G?T at position 559 in exon 4 of SLC35A3 gene. To confirm this polymorphism, the PCR product was purified using ExoSAP-IT followed by sequencing by Applied Biosystems 3130XL Automated Sequencer using the ABI BigDye Ver 3.1. Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG?CT at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. The bull was immediately culled from the breeding programme. To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations.

  20. Echocardiographic Assessment of the Pulmonary Venous Flow: An Indicator of Increased Pulmonary Flow in Congenital Cardiac Malformations

    Scientific Electronic Library Online (English)

    Ivan Romero, Rivera; Valdir Ambrósio, Moisés; Angelo Amato V. de, Paola; Antonio Carlos, Carvalho.

    2002-06-01

    Full Text Available OBJECTIVE: To identify the left inferior pulmonary vein as an indirect marker of increased pulmonary flow in congenital heart diseases.METHODS: We carried out a prospective consecutive study on 40 patients divided into 2 groups as follows: G1 - 20 patients diagnosed with congenital heart disease and [...] increased pulmonary flow; G2 (control group) - 20 patients who were either healthy or had congenital heart disease with decreased or normal pulmonary flow. We obtained the velocity-time integral of the left inferior pulmonary vein flow, excluding the "reverse A" wave, with pulsed Doppler echocardiography.RESULTS: In G1, 19 out of the 20 patients had well-identified dilation of the left inferior pulmonary vein. No G2 patient had dilation of the left inferior pulmonary vein. Dilation of the left inferior pulmonary vein in conditions of increased pulmonary flow had sensitivity of 95%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 95% (1 false-negative case). The integral of time and velocity of the pulmonary venous flow obtained with pulsed Doppler echocardiography was greater in the G1 patients (G1=25.0±4.6 cm versus G2=14.8±2.1 cm, p=0.0001).CONCLUSION: The identification of dilation of the left inferior pulmonary vein suggests the presence of congenital heart disease with increased pulmonary flow. This may be used as an indirect sign of increased flow, mainly in malformations of difficult diagnosis, such as atrial septal defects of the venous sinus or coronary sinus type.

  1. Echocardiographic Assessment of the Pulmonary Venous Flow: An Indicator of Increased Pulmonary Flow in Congenital Cardiac Malformations

    Directory of Open Access Journals (Sweden)

    Ivan Romero Rivera

    2002-06-01

    Full Text Available OBJECTIVE: To identify the left inferior pulmonary vein as an indirect marker of increased pulmonary flow in congenital heart diseases.METHODS: We carried out a prospective consecutive study on 40 patients divided into 2 groups as follows: G1 - 20 patients diagnosed with congenital heart disease and increased pulmonary flow; G2 (control group - 20 patients who were either healthy or had congenital heart disease with decreased or normal pulmonary flow. We obtained the velocity-time integral of the left inferior pulmonary vein flow, excluding the "reverse A" wave, with pulsed Doppler echocardiography.RESULTS: In G1, 19 out of the 20 patients had well-identified dilation of the left inferior pulmonary vein. No G2 patient had dilation of the left inferior pulmonary vein. Dilation of the left inferior pulmonary vein in conditions of increased pulmonary flow had sensitivity of 95%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 95% (1 false-negative case. The integral of time and velocity of the pulmonary venous flow obtained with pulsed Doppler echocardiography was greater in the G1 patients (G1=25.0±4.6 cm versus G2=14.8±2.1 cm, p=0.0001.CONCLUSION: The identification of dilation of the left inferior pulmonary vein suggests the presence of congenital heart disease with increased pulmonary flow. This may be used as an indirect sign of increased flow, mainly in malformations of difficult diagnosis, such as atrial septal defects of the venous sinus or coronary sinus type.

  2. STUDY ABOUT INCIDENCE OF CONGENITAL BONY ABNORMALITIES IN A POPULATION WITH MENTAL DEFICIENCY

    Directory of Open Access Journals (Sweden)

    Ioana Mihaela Tomulescu

    2003-01-01

    Full Text Available This study is about the incidence of congenital bony abnormalities in a population with mental deficiency. Is known that genetic disorders cause mental disorders and malformative disorders, including bony abnormalities. The most often observed congenital abnormalities are:congenital hip sprain, flat foot, club foot, equin foot and congenital vertebral column disorders. We studied 596 children interned in in Neurology and Psychiatry Clinical Hospital of Oradea between 1999 and 2001 period. In 596 children, 393 presented different types of mental deficiency. We observed that most common bony disorders in this population are congenital hip sprain, vertebral column abnormalities and club foot.

  3. Living fetus without congenital malformation in a singleton partial hydatidiform molar pregnancy: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Babita Ramani

    2014-08-01

    Full Text Available A 36 years old lady gravida 2 para 1, came to our emergency ward at 9:30 pm on 12th June 2010 with complains of bleeding p/v for 2 hours with history of bleeding at 12 weeks. On examination she was anemic and uterus was 32 weeks size with good fetal heart sound. Bleeding was coming through os, on p/s examination. Ultrasonography showed a single live fetus of 1033 grams and thickened placenta (79 mm thickness showing multiple cystic lesion with peripheral hypervascularity, giving an impression of partial hydatidiform mole. She was managed conservatively and delivered a live preterm male child of 960 grams on 13th June 2010 evening without any congenital malformation. Placental weight was 1800 grams with multiple small vesicles. Now the boy is 4 years old and going to school with normal developmental milestone. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1130-1133

  4. Risk for congenital malformations in offspring of women who have undergone bariatric surgery. A national cohort

    OpenAIRE

    Josefsson, Ann; Bladh, Marie; Wirehn, A-B; Sydsjö, Gunilla

    2013-01-01

    Objective To study the risk for congenital anomalies in the first child of women after bariatric surgery compared with all other women giving birth to their first child and divided by maternal body mass index (BMI) groups. Design Prospective, population-based register study. Setting Sweden. Sample All firstborn children to women born 1973–83 were studied to determine if they had a congenital anomaly and a mother who had undergone bariatric surgery before pregnancy. Methods A total of 270 805 ...

  5. [Frequency, dynamics, and structure of congenital malformations in populations under long-term exposure to ionizing radiation].

    Science.gov (United States)

    Sviatova, G S; Abil'dinova, G Zh; Berezina, G M

    2001-12-01

    Information on the dynamics, frequency, and structure of congenital malformations (CMs) and chromosomal diseases in two generations of rural populations from the Semipalatinsk region was obtained for the first time. The tests performed in the Semipalatinsk nuclear test site (STS) for many years were demonstrated to deteriorate the genetic health of the populations of the zones of extreme and maximum radiation risks. Mutagenic and teratogenic effects of long-term ionizing irradiation were detected. These were mainly expressed as an increase in the frequencies of strictly registered CMs (SR CMs), including the Down syndrome, multiple malformations (MMs) and microcephaly (1.45 +/- 0.11, 1.39 +/- 0.01, and 0.77 +/- 0.05 per 1000 births, respectively). SR CMs exhibited linear trends toward higher frequencies in two generations of exposed persons after surface nuclear tests in 1949-1963. Their frequency was strongly correlated with the effective population dose of radiation; the main population genetic parameters (inbreeding coefficient, endogamy index, etc.) had less pronounced effects on Cms. PMID:11785298

  6. Electroencephalography in congenital malformations of the central nervous system Electroencefalografia en las malformaciones congénitas del sistema nervioso central

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    Patrícia Campos

    1994-12-01

    Full Text Available We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.Estudiamos aspectos clínicos e del EEG de 36 casos de malformaciones congénitas del sistema nervioso central. Los pacientes fueron seguidos en los consultorios externos del Hospital Cayetano Heredia y del Hogar Clínica San Juan de Dios en Lima-Peru, desde enero 1984 hasta junio 1992. Ochenta por ciento de los pacientes presentaron sindrome convulsivo y retardo mental. La anormalidad mas frecuente correspondió a agenesia de cuerpo calloso y no fue posible identificar un patron EEG "típico". El segundo lugar correspondió a quistes porencefálicos, con buena correlación clínico-EEG. Ademas, hubieron dos casos clínicamente típicos de esquizencefalia, una hemimegalencefalia con buen prognóstico y un caso de holoprosencefalia. Se comparan los resultados con aquellos de casos previamente revisados. Se discuten los dados frente a la literatura acerca de los patrones EEG mas frecuentemente relatados. Se concluye en la utilidad del EEG en países en desarrollo para hacer posible un alto grado de sospecha de una malformación del SNC aun en ausencia de CAT-scan.

  7. Electroencephalography in congenital malformations of the central nervous system / Electroencefalografia en las malformaciones congénitas del sistema nervioso central

    Scientific Electronic Library Online (English)

    Patrícia, Campos; Guillermo, Cruz; Rodolfo, Lizarraga; Ernesto, Bancalari; Daniel, Guillen; Carlos, Castañeda.

    1994-12-01

    Full Text Available Estudiamos aspectos clínicos e del EEG de 36 casos de malformaciones congénitas del sistema nervioso central. Los pacientes fueron seguidos en los consultorios externos del Hospital Cayetano Heredia y del Hogar Clínica San Juan de Dios en Lima-Peru, desde enero 1984 hasta junio 1992. Ochenta por cie [...] nto de los pacientes presentaron sindrome convulsivo y retardo mental. La anormalidad mas frecuente correspondió a agenesia de cuerpo calloso y no fue posible identificar un patron EEG "típico". El segundo lugar correspondió a quistes porencefálicos, con buena correlación clínico-EEG. Ademas, hubieron dos casos clínicamente típicos de esquizencefalia, una hemimegalencefalia con buen prognóstico y un caso de holoprosencefalia. Se comparan los resultados con aquellos de casos previamente revisados. Se discuten los dados frente a la literatura acerca de los patrones EEG mas frecuentemente relatados. Se concluye en la utilidad del EEG en países en desarrollo para hacer posible un alto grado de sospecha de una malformación del SNC aun en ausencia de CAT-scan. Abstract in english We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive sy [...] ndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

  8. MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations

    Energy Technology Data Exchange (ETDEWEB)

    Grams, Astrid E. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Giessen, Justus Liebig University, Department of Neuroradiology, Giessen (Germany); Kraff, Oliver; Umutlu, Lale; Maderwald, Stefan; Ladd, Mark E.; Forsting, Michael [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Dammann, Philipp [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Neurosurgery, Essen (Germany); Gizewski, Elke R. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany)

    2012-05-15

    The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

  9. MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations

    International Nuclear Information System (INIS)

    The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the he meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

  10. Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998) / Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile

    Scientific Electronic Library Online (English)

    Alfredo, Aguila R; Julio, Nazer H; Lucía, Cifuentes O; Paola, Mella A; Pedro, de la Barra H; David, Gutiérrez T.

    2000-02-01

    Full Text Available [...] Abstract in english Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To st [...] udy the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

  11. Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998 Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile

    Directory of Open Access Journals (Sweden)

    Alfredo Aguila R

    2000-02-01

    Full Text Available Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To study the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

  12. Improving outcomes in fetuses and neonates with congenital displacement (Ebstein's malformation) or dysplasia of the tricuspid valve.

    Science.gov (United States)

    McElhinney, Doff B; Salvin, Joshua W; Colan, Steven D; Thiagarajan, Ravi; Crawford, Elizabeth C; Marcus, Edward N; del Nido, Pedro J; Tworetzky, Wayne

    2005-08-15

    From 1984 to 2004, 66 patients were diagnosed with Ebstein's malformation (n = 61) or congenital tricuspid valve (TV) dysplasia (n = 5) in utero or during the first month of life. Of these, 33 were diagnosed by fetal echocardiography at a median gestational age of 22 weeks, and 33 were diagnosed postnatally at a median age of 1 day (range 1 to 27). In 8 of the 33 prenatally diagnosed patients (24%), the pregnancies were terminated; in 9 (27%), the fetuses died in utero, and in 16 (49%), the fetuses survived to birth. Seven prenatally diagnosed patients survived beyond the neonatal period (21% of 33). Of the 49 neonates, 35 (71%) survived to hospital discharge and beyond 1 month of age. Independent predictors of death by multivariable logistic regression analysis included right atrial area index >1, the absence of anterograde flow across the pulmonary valve, and diagnosis before 1997. Although outcomes in fetuses and neonates with congenital anomalies of the TV have improved in more recent experience, survival in patients at the severe end of the spectrum remains poor. To improve outcomes in this group of high-risk patients, novel approaches to management may be indicated. PMID:16098316

  13. Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report

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    Sountoulides P

    2008-05-01

    Full Text Available Abstract Introduction Congenital renal arteriovenous malformations (AVMs are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive hematuria and flank pain. CT scan revealed a filling defect caused by a soft tissue mass in the renal pelvis, which initially led to the suspicion of a transitional cell carcinoma (TCC of the upper tract, in view of the patient's age and smoking habits. However a subsequent retrograde study could not depict any filling defect in the renal pelvis. Selective right renal arteriography confirmed the presence of a renal AVM by demonstrating abnormal arterial communication with a vein with early visualization of the venous system. At the same time successful selective transcatheter embolization of the lesion was performed. Conclusion This case highlights the importance of careful diagnostic work-up in the evaluation of upper tract hematuria. In the case presented, a congenital renal AVM proved to be the cause of massive upper tract hematuria and flank pain in spite of the initial evidence indicating the likely diagnosis of a renal pelvis tumor.

  14. Understanding the morphology of the specialized conduction tissues in congenitally malformed hearts.

    Science.gov (United States)

    Aiello, Vera Demarchi

    2015-04-01

    To repair congenital heart defects by means of open heart surgery, the surgeon needs guidance about the location and distribution of the specialized conduction tissues, in order to avoid their direct damage and consequent conduction disturbances. This review addresses the historical steps of the morphological study of the conduction system in different types of heart defects, providing updated information about the subject. PMID:25870343

  15. A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle

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    Zhang Yi

    2012-07-01

    Full Text Available Abstract Background Complex vertebral malformation (CVM and bovine leukocyte adhesion deficiency (BLAD are two autosomal recessive lethal genetic defects frequently occurring in Holstein cattle, identifiable by single nucleotide polymorphisms. The objective of this study is to develop a rapid and reliable genotyping assay to screen the active Holstein sires and determine the carrier frequency of CVM and BLAD in Chinese dairy cattle population. Results We developed real-time PCR-based assays for discrimination of wild-type and defective alleles, so that carriers can be detected. Only one step was required after the DNA extraction from the sample and time consumption was about 2 hours. A total of 587 Chinese Holstein bulls were assayed, and fifty-six CVM-carriers and eight BLAD-carriers were identified, corresponding to heterozygote carrier frequencies of 9.54% and 1.36%, respectively. The pedigree analysis showed that most of the carriers could be traced back to the common ancestry, Osborndale Ivanhoe for BLAD and Pennstate Ivanhoe Star for CVM. Conclusions These results demonstrate that real-time PCR is a simple, rapid and reliable assay for BLAD and CVM defective allele detection. The high frequency of the CVM allele suggests that implementing a routine testing system is necessary to gradually eradicate the deleterious gene from the Chinese Holstein population.

  16. Malformaciones congénitas del sistema digestivo: Maternidad Hospital Clínico de la Universidad de Chile. Período 1991-2001 Frequency of digestive system congenital malformations detected at the University of Chile Hospital in the period 1991-2001

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2003-02-01

    Full Text Available There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. Aim: To report the frequency of digestive system congenital malformations in this population. Material and methods: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. Results: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. Conclusions: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations (Rev Méd Chile 2003; 131: 190-6

  17. Malformaciones congénitas del sistema digestivo: Maternidad Hospital Clínico de la Universidad de Chile. Período 1991-2001 / Frequency of digestive system congenital malformations detected at the University of Chile Hospital in the period 1991-2001

    Scientific Electronic Library Online (English)

    Julio, Nazer H; María Eugenia, Juárez H; María Eugenia, Hübner G; Mónica, Antolini T; Lucía, Cifuentes O.

    2003-02-01

    Full Text Available [...] Abstract in english There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. Aim: To report the frequency of digestive system congenital malformations in th [...] is population. Material and methods: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. Results: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. Conclusions: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations (Rev Méd Chile 2003; 131: 190-6)

  18. Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection

    International Nuclear Information System (INIS)

    Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malformations, serological studies of both mother and baby were positive for VZV. The baby underwent palliative surgery to the eyes, upon discharge, a plan of multidisciplinary team was made for follow up including neurologist, ophthalmologist, pediatrician and social worker. Congenital VZV infection can be severe enough to cause catastrophic fetal anomalies and damage to the vital organs as many of those infants die in infancy. (author)

  19. Pattern of congenital malformations in newborn: a hospital-based study

    OpenAIRE

    Mohamed El Koumi; Ehab Al Banna; Ibrahim Lebda

    2013-01-01

    Background: Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified based on their severity, pathogenic mechanism or whether they involve a single system or multiple systems. This hospital based prospective descriptive study highlights the prevalence of congenital anomalies (CAs) in one year, among liveborn neonates delivered in a university hospital. Design and methods: All women giving birth to babies...

  20. Induction of congenital malformations in the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages

    International Nuclear Information System (INIS)

    The induction of congenital malformations among the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages has been studied in two experiments. Firstly, animals were exposed to varying doses of X-rays and mated at various time intervals, so as to sample spermatozoa, spermatids and spermatogonial stem cells. In the second experiment, only treated spermatogonial stem cells were sampled. One group of males was given a single dose, a second group a fractionated dose and a third group was left unexposed. In the first experiment, induced post-implantation dominant lethality increased with dose, and was highest in week 3, in line with the known greater radiosensitivity of the early spermatid stage. Preimplantation loss also increased with dose and was highest in week 3. There was no clear induction of either pre-implantation or post-implantation loss at spermatogonial stem cell stages. There was a clear induction of congenital malformations at post-meiotic stages. At the two highest doses the early spermatids (15-21 days) appeared more sensitive than spermatozoa, and at this stage the incidence of malformations increased with dose. Expt. 2 showed a statistically significant induction of malformations at both dose levels. The relative sensitivities of male stem cells, post-meiotic stages and mature oocytes to the induction of congenital malformations were reasonably similar to their sensitivities for specific-locus mutations, except that the expectec-locus mutations, except that the expected enhancing effect of the fractionation regime used was not seen. (Auth.)

  1. Pesquisaje ultrasonográfico de marcadores genéticos y malformaciones congénitas mayores / Ultrasonographic Screening of Genetic Markers and Serious Congenital Malformations

    Scientific Electronic Library Online (English)

    Filiberto, Miranda Rosales; Cynara, Mirón Folgoso; Arnaldo, Balaguer Burón; Eida, Iglesias Vidal; Idalmís, Pérez Gonzáles; Deborah, Cento Pernas.

    2012-06-01

    Full Text Available Introducción: la determinación del valor predictivo de los marcadores genéticos es de vital importancia; ya que la presencia de varios marcadores en etapas tempranas de la gestación es un indicador de la presencia o no de aneuploidias. Objetivo: elevar la calidad del diagnóstico prenatal desde las p [...] rimeras semanas del embarazo. Método: se realizó un estudio descriptivo de serie de casos donde se incluyeron a todas las embarazadas del Policlínico Docente Comunitario José Martí Pérez. El muestreo fue no probabilístico; se realizó un estudio ecográfico en el primer y segundo trimestre; las anomalías detectadas por ultrasonido y los diagnósticos anatomopatológicos fueron clasificados de acuerdo con la estructura anatómica mayor afectada. La comparación de sus resultados permitió corroborar el diagnóstico preliminar. Se realizó análisis estadístico descriptivo y los resultados se expresaron en porcentajes y tablas. Resultados: se tomaron en cuenta según su significado clínico o no los resultados de los marcadores genéticos registrados; los de mayores incidencias fueron la visualización de estructuras colectoras y la imagen de ping pong ball, la presencia de varios marcadores se asoció a malformaciones congénitas mayores. El mayor número de alteraciones se detectaron entre 20 y 34 años. Conclusiones: el pesquisaje de marcadores genéticos eleva la calidad del diagnóstico prenatal, ya que aparecen tempranamente y están relacionados o no con alteraciones cromosómicas u otras malformaciones congénitas mayores. Abstract in english Introduction: the determination of the predictive value of genetic markers is of vital importance; because the presence of several markers in early stages of gestation is an indicator of the presence or not of aneuploidy. Objective: to improve the quality of prenatal diagnosis from the first weeks o [...] f pregnancy. Method: a descriptive retrospective study was carried out where all pregnant women who have undergone the ultrasonographic study during the 1st and 2nd trimester were included. Non probabilistic sampling was used. Anomalies detected by ultrasonography and pathoanatomical diagnosis were classified according to the most affected anatomical structure. Comparison of their results corroborated the preliminary diagnosis. Descriptive statistical analysis was performed and results were expressed in percentages and tables. Results: results of registered genetic markers were taken into account according to its clinical meaning or not; those of more incidences were the visualization of collector structures and the ping pong ball image, the presence of several markers associated with serious congenital malformations; the biggest number of alterations was detected between 20 and 34 years. Conclusions: the screening of genetic markers increases the quality of prenatal diagnosis, because of their early appearance and they are related or not with chromosomal alterations or other serious congenital malformations.

  2. Malformações cardíacas congênitas em necropsias pediátricas: características, associações e prevalência Congenital cardiac malformations in pediatric necropsies: characteristics, associations and prevalence

    Directory of Open Access Journals (Sweden)

    Dinaldo de Lima Leite

    2010-03-01

    Full Text Available FUNDAMENTO: No Brasil, desde 2001, as anomalias congênitas constituem a segunda causa de morte em crianças menores de um ano, respondendo os defeitos cardiovasculares por 39,4% destes óbitos. OBJETIVOS: Conhecer a prevalência e as características das malformações cardíacas congênitas em necropsias pediátricas realizadas no Hospital Regional da Asa Sul, Brasília, DF, de janeiro de 1996 a dezembro de 2007. MÉTODOS: Estudo descritivo, transversal, sendo revisadas 1591 necropsias realizadas de janeiro de 1996 a dezembro de 2007 e encontradas 189 (11,9% com malformações cardíacas congênitas, incluídas neste trabalho. RESULTADOS: As anomalias cardíacas foram observadas principalmente no grupo dos neomortos (117/61,9%, seguindo-se o grupo dos natimortos (35/18,5%, o grupo dos lactentes (30/15,9% e o grupo dos pré-escolares (7/3,7%, não havendo nenhum caso entre os escolares. As principais alterações detectadas nessa população foram: a comunicação interatrial em 96 pacientes (27%, a comunicação interventricular em 66 (18,5% e a persistência do canal arterial em 51 (14,3%, sem predomínio entre os sexos. Em 133 pacientes (70,4%, as cardiopatias eram múltiplas e em 96 (50,8% estavam associadas a anomalias de outros órgãos e sistemas; dentre esses, 45 (23,8% apresentaram cardiopatias como componentes de síndromes, destacando-se a alta prevalência de doenças cromossômicas, especialmente as trissomias, em todas as faixas etárias. CONCLUSÕES: Os resultados deste trabalho mostram elevada prevalência de anomalias cardíacas congênitas em nosso meio e distribuição e associações semelhantes às observadas em países desenvolvidos. A elevada mortalidade associada a essas anomalias alerta para a necessidade de pesquisas mais abrangentes a fim de se conhecer os fatores de risco e buscar a prevenção primária de alguns desses defeitos.BACKGROUND: In Brazil, since 2001, the congenital abnormalities have represented the second cause of death in children younger than one year, with cardiovascular defects being responsible for 39.4% of these deaths. OBJECTIVES: To establish the prevalence and the characteristics of the congenital cardiac malformations in pediatric necropsies performed in Hospital Regional da Asa Sul, Brasília, DF, Brazil, from January 1996 to December 2007. METHODS: This is a descriptive, cross-sectional study that reviewed 1,591 necropsies performed from January 1996 to December 2007 and found 189 (11.9% with congenital cardiac malformations, included in this study. RESULTS: The cardiac abnormalities were observed mainly in the group of live births (117/61.9%, followed by the stillbirths (35/18.5%, the infant group (30/15.9% and the preschoolers' group (7/3.7%, with no cases identified among school-aged children. The main alterations detected were: interatrial communication in 96 patients (27%, interventricular communication in 66 patients (18.5% and patent ductus arteriosus in 51 (14.3%, with no predominance of either sex. In 133 patients (70.4%, the cardiopathies were multiple and in 96 (50.8% they were associated with anomalies in other organs and systems; among these, 45 (23.8% presented cardiopathies as syndrome components, especially trisomies, at all age ranges. CONCLUSIONS: The results of the present study show a high prevalence of congenital cardiac anomalies in our country and distribution and association that were similar to the ones observed in developed countries. The high mortality associated to such anomalies highlights the need for more comprehensive research in order to identify the risk factors and seek the primary prevention of some of these defects.

  3. Pattern of congenital malformations in newborn: a hospital-based study

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    Mohamed El Koumi

    2013-02-01

    Full Text Available Background: Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified based on their severity, pathogenic mechanism or whether they involve a single system or multiple systems. This hospital based prospective descriptive study highlights the prevalence of congenital anomalies (CAs in one year, among liveborn neonates delivered in a university hospital. Design and methods: All women giving birth to babies were included. Demographic details, associated risk factors and the type of CAs in babies were recorded. Diagnosis of CAs was based on clinical evaluation, radiographic examination and chromosomal analysis of newborn whenever recommended. Results: The overall incidence of CAs among liveborn neonates was 2.5%, as most of the cases were referred to Zagazig University Hospital for delivery. The musculoskeletal system (23% was the most commonly involved; followed by central nervous system (20.3%. Involvement of more than one system was observed in (28.6% cases. Out of the maternal and fetal risk factors, parental consanguinity, maternal undernutrition and obesity, positive history of an anomaly in the family, low birth weight(LBW, and prematurity were significantly associated with higher frequency of CAs(p <0.05, with non-significant differences for maternal age and the sex of the neonates. Conclusion : The current study highlighted the point prevalence of congenital anomalies in one year in zagazig university hospital in Egypt. The present study revealed a high prevalence of congenital anomalies in our locality and stressed upon the importance of carrying out a thorough clinical examination of all neonates at birth.

  4. The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

    International Nuclear Information System (INIS)

    For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequencations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one year at least. Ozyorsk is located near the large-scale nuclear complex Mayak which became operational in the Southern Ural in 1948. The aim of our follow-up is to study prevalence of CMs detected at birth or during the first year of life among the children born in the city of Ozyorsk in 1974-1988. This cohort was chosen for study, because medical records on children of this birth years are well preserved and the most complete information for these years might be obtained. (Author) 17 refs

  5. Prevalencia al nacimiento de malformaciones congénitas en las maternidades chilenas participantes en el ECLAMC en el período 2001-2010 / Prevalence of congenital malformations at birth in chilean maternity hospitals

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O.

    1150-11-01

    Full Text Available [...] Abstract in english Background: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) is an epidemiological surveillance system operating in 11 South American countries since 1969. Aim: To analyze the Congenital Malformation prevalence rate at birth from 2001 to 2010 in Chilean Hospitals participa [...] ting in ECLAMC. To compare these rates with those of the period 1982-1994. Material and Methods: Review of the ECLAMC database, which contains information about 282.568 newborns, 2.110 of them stillbirths (0.75%) from 13 Maternity hospitals. Results: In the study period, 10.925 newborns had congenital malformations (3.9 %). Their frequency was lower in live newborns than stillbirths (3.8 and 15.3%, respectively). Compared with the 1982-1994 period, congenital malformation prevalence rates at birth were higher. They stabilized in approximately 4 %, from 1985 to 2010. The prevalence of some anomalies such as Down syndrome increased significantly. On the other hand, there was a reduction in the prevalence of spina bifida and anencephaly. Conclusions: Prevalence rates of congenital malformations at birth remained stable in the last 18 years in Chilean Hospitals participating in ECLAMC. However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-microtia, syndactyly and cleft palate have increased. The prevalence rates of spina bifida and anencephaly have decreased.

  6. Cumulative discounted expressions of sire genotypes for the complex vertebral malformation and beta-casein loci in commercial dairy herds.

    Science.gov (United States)

    Kearney, J F; Amer, P R; Villanueva, B

    2005-12-01

    Based on discounted gene-flow principles, a set of recursive equations was developed to quantify the value of using sires with a specific genotype for an identified gene in a commercial dairy herd. Two examples were used to demonstrate the usefulness of the method. The first example deals with the implications of using sires that are known carriers of the lethal recessive genetic defect, complex vertebral malformation (CVM). The second example examines the value of using sires homozygous for the A2 allele of beta-casein. Results are presented in terms of cumulative discounted expressions. These are then multiplied by the economic values of specific genotypes to determine the cost or benefit of using these sires. In general, the degree of mortality and the required price reduction for carrier sires increased as the proportion of carrier sires used, the duration of sire use, and the initial frequency in the cow herd increased. A semen discount of 3.10 pound sterling per CVM straw used would be required to offset the expected mortality when 20% of CVM carrier sires are used for 3 yr when 5% of cows are carriers. The cumulative discounted expressions' of using sires homozygous for the A2 allele of beta-casein also increased when the proportion and duration of carrier sire use and the initial frequency of the A2 allele increased. Assuming an A2A2 cow is worth 160 pound sterling more than a non-A2A2 cow, the expected benefit of using A2A2 sires in a 100-cow herd for 5 yr would be 57 pound sterling,120 for a 20-yr planning horizon. The results of this study demonstrate how the starting gene frequency in the herd, and the proportion and duration of use of sires of particular genotypes are critical to the economic implications of using single genes in commercial dairy farms. PMID:16291634

  7. Diagnóstico ultrasonográfico de malformaciones congénitas: Nuestra experiencia en el período 1983-1995 Ultrasonographic diagnosis of congenital malformations: Our experiences in the period 1983-1995

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    Miguel Pérez Ramírez

    1997-06-01

    Full Text Available Se hizo un resumen del trabajo realizado durante 13 años con ecografía bidimensional en el Departamento de ultrasonido de nuestro hospital, motivados por la importancia de la detección intraútero, cada vez más precoz, de las malformaciones congénitas, con el propósito de demostrar el valor de la ecografía bidimensional para el diagnóstico de éstas. Revisamos los expedientes clínicos de las pacientes con malformaciones diagnosticadas y analizamos variables como: positividad del diagnóstico, principales tipos de malformaciones encontradas, así como las causas de los errores cometidos. Entre los principales resultados obtenidos tenemos que de los 73 866 exámenes realizados, encontramos 147 malformaciones, o sea, una malformación por cada 502,4 estudios realizados, lo que arroja un promedio anual de 11,3 malformaciones. Entre las malformaciones más frecuentemente diagnosticadas encontramos los del sistema nervioso central, siguiéndoles las renales, cardíacas, digestivas y otras. Concluimos señalando que a pesar de las novedosas técnicas aparecidas últimamente, la ecografía bidimensional sigue siendo, en manos expertas, un medio ideal, relativamente barato o inocuo para el diagnóstico de las malformaciones congénitas.It was made a summary of the work carried out during 13 years with bidimensional echography at the Ultrasound Department of our hospital, motivated by the importance of detecting intrauterus, increasingly early, and congenital malformations aimed at demonstrating the value of bidemensional echography for their diagnosis. The medical histories of the patients with diagnosed malformations were reviewed and variables such as the positivity of the diagnosis and the main types of malformations found were analyzed. The causes of the mistakes made were also examined. Among the principal results obtained it was found that of the 73 866 examinations made 147 were malformations, that is, a malformation per every 502.4 conducted studies. The annual average was of 11.3 malformations. One of the most frequently diagnosed malformations was that of the central nervous system, followed by the renal, cardiac, digestive and others. It is concluded that in spite of the appearance of new techniques, the bidemensional echography is still, in expert hands, a relatively cheap or innocuous ideal means for the diagnosis of congenital malformations.

  8. Complex congenital heart malformation evaluated with MR imaging at 0.3 T

    International Nuclear Information System (INIS)

    The aim of this study was to evaluate the efficiency of MR imaging at 0.3 T as the single modality in diagnosing complex congenital heart disease (CHD). Films from 45 cases were reviewed in two stages by four specialists and one fellow in pediatric radiology, who were unfamiliar with the patients. First a general review of CHD diagnosis was made, then a detailed study of anomalous venous return was performed. Regarding the general diagnosis of cardiovascular anomalies the results were good, with sensitivity of 80%, specificity of 96%, a positive predictive value of 88%, a negative predictive value of 93% and accuracy of 92%. As expected, the less experienced reviewer had somewhat lower figures. As for detailed evaluation of the anomalous veins, the diagnostic results were again good (sensitivity 85%), although less so when also the connection sites of the anomalous veins were considered (sensitivity 79%). The specificity of the findings was high at 97%. MR imaging at 0.3 T is valuable in the diagnosis of comples CHD, especially for anomalous vessels and their connections. (orig.)

  9. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

    Science.gov (United States)

    Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A; Sykiotis, Gerasimos P; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

    2014-11-13

    Purpose:Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.Methods:We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions and/or functional assays.Results:We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM, seven of whom (88%) harbor FGFR1 mutations. Of these seven, one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin-releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2? binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2? to FGFR1, thereby resulting in reduced mitogen-activated protein kinase signaling.Conclusion:FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.Genet Med advance online publication 13 November 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.166. PMID:25394172

  10. JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

    Science.gov (United States)

    Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

    2015-07-01

    We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. PMID:25998214

  11. Diagnóstico prenatal y atención de las malformaciones congénitas y otras enfermedades genéticas Prenatal diagnosis and medical care of congenital malformations and other genetic diseases.

    Directory of Open Access Journals (Sweden)

    Manuel Piloto Morejón

    2001-12-01

    Full Text Available Se realizó un estudio longitudinal, prospectivo y descriptivo en la provincia de Pinar del Río, en el año 1998, para contribuir al conocimiento de las malformaciones congénitas y las enfermedades genéticas. Se estudiaron 128 gestantes cuyos fetos tenían diagnóstico de 1 o más malformaciones congénitas o enfermedad genética, de ellas, 108 solicitaron interrupción del embarazo y las malformaciones más frecuentes fueron: las cardiovasculares (29,69 %, los defectos del tubo neural (17,97 % y las renales (14,84 %. Se observó que la región occidental tuvo la mayor tasa de malformaciones detectadas por 1 000 nacimientos (16,80, por encima de la tasa provincial (11,82 y que la edad gestacional promedio al momento del diagnóstico prenatal fue de 21,79 sem (DE = =3,99. Hubo un 6,54 y un 1,87 % de complicaciones maternas en el aborto-parto y en el puerperio, respectivamente. En las 20 embarazadas que decidieron no interrumpirse el embarazo, hubo evolutivamente 25 % de muertes fetales tardías, 10 % de muertes neonatales precoces, 5 % de muertes neonatales tardías y posneonatales y 55 % de niños vivos al año de edad (n = 11, aunque todos con malformaciones y diferentes grados de afectación. Se obtuvo el 99,03 % de confirmación del diagnóstico prenatal.A longitudinal, prospective and descriptive study of congenital malformations and genetic diseases was made in Pinar del Rio province in 1998. One-hundred and twenty eight pregnant women whose fetuses had been diagnosed with one or more congenital malformations or genetic diseases were studied. One hundred and eight of them asked for the termination of their pregnancies and the most frequent malformations were: cardiovascular (29,69%, neural tube defects (17,97% and renal malformations (14,84%. It was observed that the Western region showed the highest rate of malformations detected per 1000 births (16,80, even higher than the provincial rate (11,82 and that the average gestational age at the moment of the prenatal diagnosis was 21.79 weeks (DE=3,99. The maternal complications reached 6,54% and 1,87% in the abortion-delivery and the puerperium respectively. In the 20 pregnant women who decided not to terminate their pregnancies, there were 25% of late fetal deaths; 10% of early neonatal deaths, 5% of late neonatal deaths and 55% of live infants at 1 year of age (n=11, although all of them presented with malformations and different levels of impact. The prenatal diagnosis was confirmed in 99,03%.

  12. Diferenciales de mortalidad infantil por malformaciones congénitas con datos pareados: Chile (1993-1995) / Infant mortality differentials from congenital malformations with linked records: Chile (1993-1995)

    Scientific Electronic Library Online (English)

    Erica, Taucher S; Gloria, Icaza N.

    2001-04-01

    Full Text Available [...] Abstract in english Background: The analysis of infant mortality from congenital malformations, which at present is the main group of causes of this mortality in Chile, suggests that it could be decreased with a good knowledge of its conditioning factors. Aim: To study infant mortality differentials from congenital mal [...] formations with linked records, in the 1993 to 1995 Chilean birth cohorts. Material and methods: Analysis of mortality differentials in 1993,1994 and 1995 birth cohorts. Multivariate logistic regression of mortality from congenital diseases. Results: Univariate analysis showed that mortality is highest in the Southern regions of the country (VII to XII) and in rural areas. It is also higher in children from older and from very young mothers, it increases along with the birth order of the child and decreases with increasing educational level of the mother. Multiple logistic regression analysis, confirmed the higher mortality in the Southern regions, aged mothers, high birth order of the child and low educational level of the mother. However no significant influence of rurality nor greater mortality in children of very young mothers was found. Conclusions: These results can be attributed to the fact that this type of analysis permits the control with other variables. Although the mortality data showed interesting relationships with the independent variables, a registry of all live births and stillbirths with congenital anomalies, that would provide greater numbers and data on non fatal anomalies, would be desirable to better study their causal factors. (Rev Méd Chile 2001; 129: 405-12)

  13. Cancer risks in children with congenital malformations in the nervous and circulatory system-A population based cohort study

    DEFF Research Database (Denmark)

    Sun, Yuelian; Overvad, Kim

    2014-01-01

    AIM: We estimated the age and organ-specific cancer risk for children with a congenital malformation (CM) in the nervous or in the circulatory system. METHODS: We identified 1,709,456 live born singletons in Denmark between 1 January 1977 and 31 December 2007 and excluded children with chromosomal birth defects. Information on CMs was obtained from the Danish National Hospital Register. Information on cancer occurrence was obtained from the Danish Cancer Registry. We applied Cox proportional hazards regression model to estimate hazard ratios (HR) for cancer. Children entered into the CM cohort on the day of birth regardless of when the CM was diagnosed or on the day of CM diagnosis in an alternative analysis. RESULTS: Overall, 4484 (0.26%) and 24,643 (1.44%) children were diagnosed with a CM in the nervous and in the circulatory system, respectively. Compared with children without any CM, children with a CM in the nervous system had a 5.97 fold (95%CI [confidence interval]: 4.66-7.64) higher risk of cancer,including cancer in the central nervous system (HR=18.84, 95%CI: 12.67-28.01), in the mesothelial and soft tissue (HR=15.64, 95%CI: 7.99-30.60), in the skin (HR=4.91, 95%CI: 2.19-11.0). The associations were stronger early in life. Children with a CM in the circulatory system had a 2.64 fold (95%CI: 2.21-3.16) higher risk of cancer, including cancer in the lymphatic and haematopoietic tissues (HR=3.22, 95%CI: 2.43-4.27) and cancer in the CNS (HR=2.40, 95%CI: 1.43-4.02). Some of these associations were weaker in the alternative analysis. Children with subtypes of CM in the two systems showed a higher cancer risk. CONCLUSIONS: Children who were diagnosed with a CM in the nervous system had a substantially higher cancer risk especially early in life. Children diagnosed with a CM in the circulatory system had a moderately higher cancer risk.

  14. Major congenital malformations and residential proximity to a regional industrial park including a national toxic waste site: An ecological study

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    Polyakov Marina

    2006-03-01

    Full Text Available Abstract Background Public concern about exposure to emissions from the regional industrial park (IP, including 17 chemical plants and the national industrial toxic waste site, initiated this study of the possible association between major congenital malformations (MCM and residence near the IP in Israel's Southern District. Methods The study was conducted during the period 1995–2000 and included 63,850 deliveries. Data on deliveries and MCM detected at births were obtained from the regional medical center, and stratified by ethnicity and type of locality. As exposure indicator we used distance categories (proximal and distant and predominant wind direction from the IP. Distance stratification was based on the geographical distribution of the localities and complaints about the odor related to IP emissions. Based on these complaints, localities up to 20 km from the IP were considered proximal to the IP. Results Average rates of MCM were 5.0% and 4.1% for Bedouin and Jewish newborns, respectively. The rate of MCM for Bedouin from proximal localities was significantly greater compared with distant localities (5.6% vs. 4.8%; RR = 1.17 with 95% CI: 1.04–1.29. In the proximal Bedouin permanent localities, the MCM rate reached 8.2 %, which was significantly higher than in distant areas (RR = 1.63, 95% CI: 1.39–1.80. Significant risk increase of central nervous system MCM was found in these localities, compared to distant ones (RR = 2.27, 95% CI: 1.44–3.60. Among newborns from the traditional tribal settlements, proximity to the IP was associated with increased rates of the following MCM: 1 all combined, 2 those associated with chromosomal abnormalities, and 3 those defined as "others unclassified MCM." Comparison of autosomal recessive disease rates by proximity to the IP in Bedouin newborns indicates that the observed increased risk of MCM is not explained by consanguineous marriages. The rates of MCM in the Jewish population were similar among "exposed" and "unexposed" inhabitants. Conclusion Residential proximity to the IP is associated with increased rates of MCM among Arab-Beduin but not in Jewish populations. These observations indicate the need for public health protection of a vulnerable society in transition, although the relative importance of chemical exposure and health care utilization requires further study.

  15. Transtornos mentais maternos graves e risco de malformação congênita do bebê: uma metanálise Severe mental illness in mothers and congenital malformations in newborns: a meta-analysis

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    Priscila Krauss Pereira

    2011-12-01

    Full Text Available O risco de ter malformações parece ser maior em bebês de mães com transtornos mentais em comparação com bebês de mães sem histórico de transtornos psiquiátricos. O objetivo deste artigo foi realizar uma metanálise dos estudos sobre a associação entre transtornos mentais maternos e malformações congênitas. A revisão consistiu na busca de artigos nas bases MEDLINE, ISIWEB, Scopus, LILACS e SciELO, utilizando-se os descritores: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". Foram localizados 108 estudos, sendo selecionados cinco artigos de acordo com os critérios estabelecidos. Estes artigos foram incluídos na metanálise, envolvendo um total de 4.194 crianças de mães com transtornos mentais e 249.548 crianças de mães sem tais transtornos. A medida combinada revelou associação significativa entre exposição a transtornos mentais maternos e risco de malformações (RR = 2,06, IC95%: 1,46-2,67. O presente estudo evidencia a relação entre saúde mental materna durante a gravidez e suas repercussões na saúde do bebê.The risk of congenital malformations appears to be higher in infants of mothers with mental disorders as compared to those of mothers with no history of psychiatric illness. This article presents a meta-analysis of studies on the association between maternal mental illness and congenital malformations. The review consisted of an article search in the MEDLINE, ISIWEB, Scopus, and SciELO databases, using the following key words: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". A total of 108 studies were identified, and five articles were selected according to the established criteria. These articles were included in a meta-analysis, involving a total of 4,194 children of mothers with mental illness and 249,548 children of mothers with no such disorders. Pooled relative risk showed a significant association between exposure to mental illness in mothers and risk of malformations in newborns (RR = 2.06, 95%CI: 1.46-2.67. The study highlights the relationship between maternal mental health during pregnancy and its effects on the infant's health.

  16. Congenital Vascular Malformation

    Science.gov (United States)

    ... them, can be greatly improved in appearance by plastic surgery, but this is only occasionally needed and can ... to significant blood loss and is a surgical risk. Surgery may still be appropriate for localized, accessible lesions, ...

  17. Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo Behavior of some risk factors for major congenital malformations in Ranchuelo municipality

    Directory of Open Access Journals (Sweden)

    Noel Taboada Lugo

    2006-08-01

    Full Text Available Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a fallecido por malformaciones congénitas y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones.Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control study was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations. The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

  18. Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo / Behavior of some risk factors for major congenital malformations in Ranchuelo municipality

    Scientific Electronic Library Online (English)

    Noel, Taboada Lugo; Clara, León Mollinedo; Suyén, Martínez Chao; Olga, Díaz Inufio; Katia, Quintero Escobar.

    2006-08-01

    Full Text Available Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se [...] realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a) fallecido por malformaciones congénitas) y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones. Abstract in english Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control stud [...] y was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations). The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

  19. Incidência de malformações congênitas em crianças concebidas através de injeção intracitoplasmática de espermatozóides / Incidence of congenital malformations in children conceived through intracytoplasmic sperm injection

    Scientific Electronic Library Online (English)

    Edilberto de, Araújo Filho; Sonia Ventura, Carillo; Patricia Gomes, Silva; Ciro Dresch, Martinhago; Ricardo Luiz Razera, Baruffi; João Batista Alcantara, Oliveira; José Gonçalves, Franco Jr.

    2006-02-01

    Full Text Available OBJETIVO: avaliar a incidência e tipos de malformações congênitas maiores (MCM) em crianças concebidas por injeção intracitoplasmática de espermatozóides (ICSI) e nascidas vivas. MÉTODOS: um total de 680 crianças nasceram vivas de 511 casais submetidos à ICSI no período de janeiro de 1999 a dezembro [...] de 2002. A coleta de dados das crianças foi procedida por meio de questionário padronizado e exame clínico. Dos 511 casais, 366 foram contatados para amostragem de 371 gestações. Das 680 crianças nascidas vivas, 520 foram avaliadas, 250 delas (48,1%) por meio de questionário e 270 (51,9%) por questionário e exame físico. Duzentas e cinqüenta crianças foram de gestação única e 270 de gestação múltipla. Na análise das malformações congênitas foi empregada a 10ª Revisão da Classificação Internacional de Doenças. Nesse estudo foram analisadas apenas as MCM. A incidência de MCM foi comparada à da população geral obtida pelo Estudo Colaborativo Latino-Americano de Malformações Congênitas. A análise estatística foi feita usando o teste do chi2 (nível de significância p0,05), que teve 2,6% de incidência de MCM. As malformações mais freqüentes foram as de origem cardíaca (quatro isoladas e duas associadas), correspondendo a 40% do total. Os outros tipos de MCM foram: renal (três), defeito de fechamento do tubo neural (dois), defeito do crânio (um), lábio leporino (um), genital (um), síndrome de Down (associada à cardiopatia) (dois) e músculo-esquelética (um). Seis MCM ocorreram em crianças provenientes de gestações únicas e nove de gestações múltiplas. CONCLUSÃO: as crianças concebidas por ICSI e nascidas vivas apresentaram incidência de malformações congênitas maiores (2,9%) próximo ao esperado para a população geral (2,6%). Entretanto, para estabelecer com precisão os riscos de MCM é necessária continuidade na avaliação das crianças concebidas por ICSI. Abstract in english PURPOSE: to evaluate the incidence and types of major congenital malformations (MCM) in liveborn children conceived by intracytoplasmic sperm injection (ICSI). METHODS: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection [...] of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1%) through questionnaire and 270 (51.9%) through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the c² test (level of significance p0.05), which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated), corresponding to 40% of the total. The other types of MCM were: renal (three), neural tube (two), skull (one), cleft lip (one), genital (one), Down syndrome (associated with cardiac malformations) (two), and musculoskeletal (one). Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. CONCLUSION: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9%) near to the expected for the general population (2.6%). However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

  20. Malformaciones del sistema nervioso central en el Hospital Clínico de la Universidad de Chile y maternidades chilenas participantes en el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) / Central nervous system malformations in Chilean hospitals participating in the Latin American Collaborative Study of congenital Malformations (ECLAMC)

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O; Mariela, Rodríguez C; Mildred, Rojas N.

    2001-10-01

    Full Text Available [...] Abstract in english Background: In Chile, the rates of central nervous system congenital malformations at birth remain high, when compared with the rest of the world. Aim: To report the rates of central nervous system congenital malformations in Chilean hospitals. Material and methods: Using the ECLAMC protocol, every [...] malformed newborn or stillbirth, weighing more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Results: The rates of central nervous system congenital malformations are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals or Latin American Hospitals. There are significantly higher rates of anencephalia in Concepcion and spina bifida in Valdivia, Rancagua and Concepcion. In the University of Chile Clinical Hospital, global annual rates have a negative slope of -0.0259 per 1000 born alive, with a correlation coefficient of -0.125 (p

  1. Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

    Directory of Open Access Journals (Sweden)

    Amauri Batista da Silva

    1972-03-01

    Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

  2. Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos / Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

    Scientific Electronic Library Online (English)

    Amauri Batista da, Silva; Aílton Antonio de, Moraes; Iran da Costa, Bessa; Wilson E., Sesana.

    1972-03-01

    Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a d [...] iminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados. Abstract in english Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapear [...] ing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

  3. Frequency and structure of congenital malformations of development as markers of teratogen and mutagen radiation effects in a populations of a diverse radiation risk

    International Nuclear Information System (INIS)

    The principal task of this study is consideration of possible mutagenic and teratogenic effects of ionizing radiation on the dynamics, frequency and structure of congenital malformations of development (CMD) of newborns in rural populations of a diverse radiation risk. Analysis of dynamics of CMD spatial-temporal performances reveals the steady temporal trend to their growth in the posterity of irradiated persons and territorial build up of CMD frequency in populations geographically close to the Semipalatinsk test site. It is determined the high correlation frequency relation of CMD separate forms with population effective radiation dose (r=0.72-0.81) and considerable exposure of main population-genetic indexes (r=0.52-0.89). It is revealed population mutagenic and teratogenic effects of prolonged ionizing radiation effect on the frequency of germinal chromosomal and genome mutation in population of extremely high and maximal radiation risk

  4. Unintended pregnancies in women delivering at 18 South American hospitals. NFP-ECLAMC Group. Latin American Collaborative Study of Congenital Malformations.

    Science.gov (United States)

    Gadow, E C; Paz, J E; López-Camelo, J S; Dutra, M G; Queenan, J T; Simpson, J L; Jennings, V H; Castilla, E E

    1998-07-01

    Unintended pregnancies are accepted as associated with social, maternal and perinatal risks, but few data exist in South America. In a selected network of hospitals participating in the ECLAMC (Spanish acronym for Latin American Collaborative Study of Congenital Malformations), the frequency of unintended pregnancies was 49.8% in 5155 mothers of normal liveborns, as interviewed in the post-partum period (1992-1994). Compared with the intended pregnancy group, these mothers were more frequently multiparous, conceived easily, had a surprisingly higher mean maternal age, lower educational level, and Black ancestors. The frequency of mistimed pregnancies was the highest among primiparae. No adverse perinatal outcome could be found with regard to low birthweight (education could be a confounding factor associated with other maternal variables. The rate of unintended pregnancies in the present study is significantly higher than that described for other regions. Knowledge of the characteristics of women experiencing unintended pregnancies would allow proper public health strategies. PMID:9740463

  5. Three-dimensional display of the ventricles and cisterns from routine, non-contrast-enhanced CT scans: Hydrocephalus and congenital malformations

    International Nuclear Information System (INIS)

    Standard image data from routine head CT scans can now be reprocessed in minutes to display cerebrospinal fluid free from surrounding brain and bone without need for any contrast agent(s). The three-dimensional, volumetric images generated can then be manipulated in seconds for visualization of the ventricles from any angle, or to yield cut-plain sections for visualization of the midline or other areas of interest. Based on a analysis of 50 cases, three-dimensional display of the size, position, and configuration of the ventricles materially aids the CT-based diagnosis of hydrocephalus, shunt malfunctions, and congenital malformations such as Dandy-Walker cyst, holoprosencephaly, and callosal agenesis with cyst

  6. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Benson, J.E.; Fletcher, B.D.; Olsen, M.

    1985-09-01

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

  7. A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    International Nuclear Information System (INIS)

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly. (orig.)

  8. Neumotórax hipertensivo como forma de presentación de una malformación adenomatoidea quística pulmonar / Tension pneumothorax as a presentation of congenital cystic adenomatoid malformation of the lung

    Scientific Electronic Library Online (English)

    Estanislao, Díaz Pumará; M. Alejandra, Mortarini.

    2013-04-01

    Full Text Available El propósito de este trabajo es examinar el caso de un paciente con una forma de presentación no habitual y grave de una patología poco frecuente, como la malformación adenomatoidea quística pulmonar. Se trata de un lactante de 50 días de vida que ingresó en la unidad de cuidados intensivos pediátri [...] cos con insuficiencia respiratoria y colapso circulatorio refractario a la expansión de volumen y los inotrópicos. La radiografía de tórax mostró una imagen radiolúcida, homogénea, en la base pulmonar derecha, que parecía corresponder a una lesión bullosa en el lóbulo inferior derecho, asociada a neumotórax homolateral. Se realizó drenaje con colocación de un tubo de avenamiento pleural y se observó una mejoría clínica posterior. Se efectuó la resección del quiste mediante lobectomía inferior derecha; el diagnóstico histopatológico fue malformación adenomatoidea quística de la vía aérea de tipo 4 (clasificación de Stocker). El paciente evolucionó favorablemente. Abstract in english The purpose of this paper is to examine the case of a 50-day-old patient with an unusual and severe presentation of a rare disease: congenital cystic adenomatoid malformation of the lung. The infant was admitted to the pediatric intensive care unit with respiratory failure and circulatory collapse r [...] efractory to intravenous fluids and inotropic drugs. Chest X-ray showed a radiolucent homogeneous image in the right lung base, suggesting bullous lesion of the right lower lobe associated with ipsilateral pneumothorax. Drainage was performed by placing a chest tube with subsequent clinical improvement. Later the cyst was resected by right lower lobectomy; the histopathological diagnosis was congenital cystic adenomatoid malformation type 4 (Stocker classification). The patient evolved favorably.

  9. Amplificação por condução óssea em malformações congênitas: benefício e satisfação / Amplification by bone conduction in congenital malformations: patient benefits and satisfaction

    Scientific Electronic Library Online (English)

    Elaine Cristina Moreto, Paccola; João Cândido, Fernandes; Maria Fernanda Capoani Garcia, Mondelli.

    2013-06-01

    Full Text Available A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO). A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenv [...] olvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI. Abstract in english Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO). Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To cha [...] racterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

  10. Amplificação por condução óssea em malformações congênitas: benefício e satisfação Amplification by bone conduction in congenital malformations: patient benefits and satisfaction

    Directory of Open Access Journals (Sweden)

    Elaine Cristina Moreto Paccola

    2013-06-01

    Full Text Available A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO. A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenvolvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI.Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO. Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To characterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

  11. Congenital and infantile skin lesions affecting the hand and upper extremity, part 1: vascular neoplasms and malformations.

    Science.gov (United States)

    Willard, Katherine J; Cappel, Mark A; Kozin, Scott H; Abzug, Joshua M

    2013-11-01

    Many dermatologic conditions may be present on a newborn infant's upper extremity that can evoke concern for parents and/or primary caregivers. Although the pediatrician typically remains the first care provider, often these children are referred to specialists to diagnose and treat these lesions. Hand surgeons should be familiar with different infantile skin lesions on an upper extremity. Some lesions are best observed, whereas others require treatment with nonoperative measures, lasers, or surgical interventions. A 2-part series is presented to aid the hand surgeon in becoming familiar with these lesions. This part 1 article focuses on vascular neoplasms and malformations. Particular attention is paid to the multiple types of hemangiomas and hemangioendotheliomas, telangiectasias, angiokeratomas, as well as capillary, venous, and lymphatic malformations. Diagnostic tips and clinical photographs are provided to help differentiate among these lesions. In addition, the recommended treatment for each is discussed. PMID:23707594

  12. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  13. Unilateral fixation for treatment of occipitocervical instability in children with congenital vertebral anomalies of the craniocervical junction.

    Science.gov (United States)

    Mazur, Marcus D; Ravindra, Vijay M; Brockmeyer, Douglas L

    2015-04-01

    OBJECT Patients with occipitocervical (OC) instability from congenital vertebral anomalies (CVAs) of the craniocervical junction (CCJ) often have bony abnormalities that make instrumentation placement difficult. Within this patient population, some bilateral instrumentation constructs either fail or are not feasible, and a unilateral construct must be used. The authors describe the surgical management and outcomes of this disorder in patients in whom unilateral fixation constructs were used to treat OC instability. METHODS From a database of OC fusion procedures, the authors identified patients who underwent unilateral fixation for the management of OC instability. Patient characteristics, surgical details, and radiographic outcomes were reviewed. In each patient, CT scans were performed at least 4 months after surgery to evaluate for fusion. RESULTS Eight patients with CVAs of the CCJ underwent unilateral fixation for the treatment of OC instability. For 4 patients, the procedure occurred after a bilateral OC construct failed or infection forced hardware removal. For the remainder, it was the primary procedure. Two patients required reoperation for hardware revision and 1 developed nonunion requiring revision of the bone graft. Ultimately, 7 patients demonstrated osseous fusion on CT scans and 1 had a stable fibrous union. CONCLUSIONS These findings demonstrate that a unilateral OC fixation is effective for the treatment of OC instability in children with CVAs of the CCJ in whom bilateral screw placement fails or is not feasible. PMID:25828503

  14. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas / Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia

    Scientific Electronic Library Online (English)

    Ignacio, Zarante; Liliana, Franco; Catalina, López; Nicolás, Fernández.

    2010-01-01

    Full Text Available Introducción. El Instituto de Genética Humana, de la Pontificia Universidad Javeriana, desarrolla un programa de vigilancia de malformaciones congénitas con metodologías modificadas del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas. Objetivo. Describir la frecuencia de las princi [...] pales malformaciones congénitas en el país. Materiales y métodos. Entre abril de 2001 y enero de 2008, se obtuvo información sobre los pacientes con malformaciones congénitas y se analizaron la edad materna, la edad de gestación, el sexo y el peso del neonato, y la malformación congénita. Se clasificaron los casos según una escala de pronóstico para evaluar el impacto de la intervención del equipo de salud en la evolución de estos pacientes. Resultados. De 52.744 nacimientos en tres ciudades, 3,12% presentó alguna malformación congénita. Las anomalías de la oreja fueron las más frecuentes. El pie equino varo, la polidactilia y el labio y paladar hendidos, afectaron más a los pacientes de sexo masculino. El peso y la edad de gestación fueron menores en el grupo de los casos que en el de los controles. La escala de pronóstico mostró un alto riesgo de mortalidad o discapacidad en 54% de los pacientes y reveló que la intervención del equipo de salud cambia el pronóstico en más de 80% de los casos. Conclusión. Las frecuencias encontradas son similares a las del resto del mundo. La intervención del equipo de salud debe influir en el pronóstico de estas patologías. Un manejo temprano, adecuado e interdisciplinario es vital para disminuir la discapacidad y mejorar la calidad de vida de estos pacientes. Abstract in english Introduction. The Instituto de Genética Humana of the Pontificia Universidad Javeriana conducted an epidemiological surveillance of congenital malformations as defined by criteria provided by the Latin American Collaborative Study of Congenital Malformations. Objective. The frequency of the main con [...] genital malformations were tabulated for major urban centers in Colombia. Materials and methods. Information was gathered from 52,744 newborns between April 2001 and January 2008 in three cities of Colombia (Bogotá, Ubaté and Manizales). Data included the age of mother, gestational age, gender and weight of the newborn and the congenital malformation. Cases were classified according to a prognostic scale to assess the impact of health team interventions in the recovery process. Results. Congenital defects were noted in 3.1% of the newborns. The most frequent congenital defects were those of the ears. Clubfoot, polydactyly and cleft lip or palate were more common amongst males. The weight and gestational age were lower in the congenitally affected in comparison with the control group. The prognostic scale of congenital malformations indicated that most of these patients are at high risk of death or disability and that the intervention of the health team changed the patient´s prognosis in approximately 80% of the cases. Conclusion. Frequencies of congenital malformations in Colombia were similar to those reported in other countries. The interventions of the health team in treating patients with congenital malformations directly affected patient prognosis. Therefore, early diagnosis and adequate interdisciplinary treatment were recommended by these data in order to reduce disability and improve the quality of life of these patients.

  15. Congenital scoliosis – Quo vadis?

    OpenAIRE

    Debnath Ujjwal; Goel Vivek; Harshavardhana Nanjanduppa; Webb John

    2010-01-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of de...

  16. Mortalidad infantil por malformaciones congénitas y condición socioeconómica: el caso de la Argentina / Infant mortality due to congenital malformations and socioeconomic status: the case of Argentina

    Scientific Electronic Library Online (English)

    Rubén A., Bronberg; Esperanza, Gutiérrez Redomero; María C., Alonso; José E., Dipierri.

    2012-06-01

    Full Text Available OBJETIVO: Relacionar la tasa de mortalidad infantil por malformaciones congénitas (TMIMC) y el porcentaje de muertes por malformaciones congénitas (%MMC) con las características sociodemográficas y económicas en la Argentina. MÉTODOS: La población estudiada de la Argentina reside en 511 departamento [...] s de 23 provincias, agrupadas en cinco regiones geográficas (Noroeste, Noreste, Centro, Cuyo y Patagonía). Las variables analizadas fueron la TMLMC y el %MMC calculados a partir de los nacimientos y las defunciones del quinquenio 2002-2006. Además, se utilizaron 21 variables del Censo de Población y Vivienda del 2001 (Instituto Nacional de Estadística y Censos de Argentina) para construir el Indicador Sociodemográfico y Económico (ISDE) mediante el análisis de componentes principales. Se realizaron pruebas de comparación para valorar si aparecían diferencias significativas entre las distintas regiones y las correlaciones entre indicadores, y de estos con la latitud y longitud departamental. RESULTADOS: La TMIMC no presentó correlación significativa con el ISDE ni con las coor denadas geográficas. El %MMC y el ISDE presentaron una correlación positiva significativa (P Abstract in english OBJECTIVE: Compare the infant mortality rate due to congenital malformations ( IMRCM) and the percentage of deaths due to congenital malformations (%DCM) with sociodemographic and economic characteristics in Argentina. METHODS: The Argentine study population resided in 511 departments of 23 province [...] s, grouped into five geographic regions (Northwest, Northeast, Central, Cuyo, and Patagonia). The analyzed variables were the IMRCM and the %DCM calculated on the basis of births and deaths during 2002-2006 period. In addition, 21 variables were used from the 2001 Population and Housing Census (National Census and Statistics Institute of Argentina) to construct the Sociodemographic and Economic Indicator (SDEI) through the analysis of principal components. Comparison tests were carried out in order to assess the significant differences among the various regions and the correlations between indicators, and of these with the departmental latitudes and longitudes. RESULTS: There was no significant correlation between the IMRCM and the SDEI, nor with geographic coordinates. However, there was a significant positive correlation between the IMRCM and the SDEI (P

  17. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  18. Impacto psicológico en las gestantes ante diagnóstico de un defecto congénito fetal Psychological impact in pregnants on the presence of a fetal congenital malformation

    Directory of Open Access Journals (Sweden)

    Migdalia de las Mercedes Peña Abraham

    2006-04-01

    Full Text Available Se realizó un estudio prospectivo analítico en 100 gestantes de la provincia de Pinar del Río, a las que se les diagnosticó prenatalmente un defecto congénito fetal. El estudio se realizó desde el primero de marzo del 2002 hasta el 31 de diciembre del 2004. El diagnóstico se realizó utilizando algunos de los procedimientos siguientes: ecografía fetal, alfafetoproteína, cariotipo de células fetales en líquido amniótico y estudio molecular. Una vez realizado el diagnóstico se les brindó asesoramiento genético por un personal especializado, y posteriormente se analizaron las etapas psicológicas por las que atravesó la gestante, que en nuestro estudio resultaron ser: negación, depresión y aceptación.A prospective-analytic study was carried out in 100 pregnants from Pinar del Río province, who were antenatally diagnosed of having a fetal congenital malformation. The study took place from March 1st 2002 to December 31st 2004. The diagnosis was performed using some of the following procedures: fetal ultrasound, alpha-fetoprotein, kariotype of fetal cells in amniotic fluid and molecular study. Once the diagnosis was established, genetic advice was offered by experts and subsequently psychological stages of pregnants were analyzed, being present. negation, depression and acceptance.

  19. Health audit survey in the high level natural radiation areas of Kerala coast: prevalence of congenital malformations, late onset diseases and untoward pregnancy outcomes in the study area

    International Nuclear Information System (INIS)

    A total population of 2,52,735 was surveyed (1,24,246 males, 1,28,489 females; (sex ratio 1000:1034). congenital malformation was reported among 2951 individuals with a frequency of 1.17%. The percentage of individuals with birth defects ranged from 1% in Oachira to 1.46% in Neendakara. At least one of the late onset diseases were reported in 33,199 (13.14%) individuals. Percentage of individuals with any of the late onset diseases ranged from 10.7% in Panmana to 17.9% in Alappad. The distribution of birth defects is the eight panchayats is similar (both Kruskal Wallis and median test P > .20) whereas the distribution of late onset disease does not appear to be similar in all the panchayats (Kruskal Wallis chi-square with 7 d.f = 32.3, P < .001; median test chi-square with 7 d.f. = 15.1; P= .035). The frequency of late onset diseases among males and females in different age groups suggest that females in the age group of 30-59 report more late onset disease than their male counterparts

  20. Conocimientos de los internos de medicina sobre el programa del diagnóstico prenatal de malformaciones congénitas / Knowledge medical internists have about antenatal diagnosis of congenital malformations

    Scientific Electronic Library Online (English)

    Mairyn, Hidalgo Musa; Analiz de Paula, Paredes; Miriam, Musa Rodríguez; Mabel, Reyes Llanes; Marlén, González Martínez.

    2009-09-01

    Full Text Available RESUMEN La mortalidad perinatal ha descendido a cifras difícilmente modificables. El diagnóstico de las malformaciones fetales se ha convertido en el "caballo de batalla" de la nueva obstetricia. Entrevistamos a 50 internos de medicina de un total de 124, con el objetivo de evaluar el nivel de conoc [...] imiento concluido su 6to año, sobre el diagnóstico prenatal de malformaciones congénitas, durante su rotación de gineco-obstetricia en el curso 2007-2008. Del total de estudiantes encuestados solo 19 respondieron correctamente el 50% de la encuesta y ninguno respondió el 100%. Existen dificultades con el nivel de conocimiento de los estudiantes de medicina sobre el valor interpretativo del ultrasonido de programa, las indicaciones de un ECO fetal y la importancia de la genética comunitaria. Por los resultados obtenidos en este trabajo recomendamos revisar y ampliar el programa docente de los internos y estudiantes de medicina, incluyendo conferencias, seminarios y actividades que respondan al contenido obstétrico, genético y comunitario necesarios para promover cada día mejores resultados en el desarrollo del programa materno infantil de la comunidad. Abstract in english ABSTRACT Antenatal mortality has decreased to hardly modifiable figures. The diagnosis of fetal malformations has become into "the hobbyhorse" of the new obstetrics. To conduct this research paper 50 medical interns out of the total of 124 were interviewed to assess the level of knowledge they had a [...] bout antenatal diagnosis of congenital malformations during their rotation in the specialty of gynecology when ending the 6th academic year 2007-2008 of the medical studies. Only 19 medical students, of the 50 interviewed, answered the questionnaire correctly in 50%, none of them answered it entirely. There were dificulties in the level of knowledge of the medical students when reading the results of the ultrasound, the indications of a fetal ecocardiography and the importance of the community genetics. Due to the results obtained in this research paper, it was recommended to revise and to extend the syllabus of the internists and medical students including lectures, seminars and activities which respond to the development of the maternal-child care program of the community.

  1. Supernumerary nostril: Congenital adrenal hyperplasia with a rare congenital anomaly

    Science.gov (United States)

    Ciloglu, Sinem; Duran, Alpay; Buyukdogan, Hasan; Yigit, Ahmet K.

    2014-01-01

    Multiple or supernumerary nostril is a rare congenital anomaly with unknown etiology. The first case was reported by Lindsay as bilateral supernumerary nostrils. Supernumerary nostril cases are mostly unilateral and isolated. They are also reported with other congenital malformations like facial clefts and congenital anomalies like congenital auricular hypoplasia, congenital cataracts, eusophageal atresia and patent ductus arteriosus. Here, we report a case of supernumerary nostril with congenital adrenal hyperplasia PMID:25593872

  2. Frequency of congenital craniofacial malformations in a Brazilian Reference Center / Frequência de malformações congênitas craniofaciais em um Centro de Referência Brasileiro

    Scientific Electronic Library Online (English)

    Lívia Máris Ribeiro, Paranaíba; Roseli Teixeira de, Miranda; Leila Aparecida, Ribeiro; Letízia Monteiro de, Barros; Hercílio, Martelli-Júnior.

    2011-03-01

    Full Text Available OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4%) do gênero masculino e 486 (42,6 [...] %) do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1%), seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21%), síndromes ou sequências reconhecidas (56 casos; 5%), síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5%), e fissuras orofaciais em associação com malformações sistêmicas (27 casos; 2,4%). CONCLUSÕES: Observou-se que o defeito congênito identificado mais frequente foi a fissura labial e/ou palatina não-sindrômica, no entanto, anomalias isoladas e síndromes envolvendo as estruturas craniofaciais foram bastante encontradas. Além disso, ressalta-se a necessidade de estudos que identifiquem a frequência e os fatores de riscos associados às anomalias craniofaciais na população brasileira, a fim de que se planejem estratégias e ações integradas para o desenvolvimento de programas preventivos e de tratamento adequado. Abstract in english OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 20 [...] 08. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

  3. Frequency of congenital craniofacial malformations in a Brazilian Reference Center Frequência de malformações congênitas craniofaciais em um Centro de Referência Brasileiro

    Directory of Open Access Journals (Sweden)

    Lívia Máris Ribeiro Paranaíba

    2011-03-01

    Full Text Available OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4% male and 486 (42.6% female, between 1992 and 2008. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%, followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%, recognized syndromes or sequences (56 cases; 5%, syndromes with orofacial cleft as a component (41 cases; 3.5%, and orofacial clefts in association with systemic malformations (27 cases; 2.4%. CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4% do gênero masculino e 486 (42,6% do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1%, seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21%, síndromes ou sequências reconhecidas (56 casos; 5%, síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5%, e fissuras orofaciais em associação com malformações sistêmicas (27 casos; 2,4%. CONCLUSÕES: Observou-se que o defeito congênito identificado mais frequente foi a fissura labial e/ou palatina não-sindrômica, no entanto, anomalias isoladas e síndromes envolvendo as estruturas craniofaciais foram bastante encontradas. Além disso, ressalta-se a necessidade de estudos que identifiquem a frequência e os fatores de riscos associados às anomalias craniofaciais na população brasileira, a fim de que se planejem estratégias e ações integradas para o desenvolvimento de programas preventivos e de tratamento adequado.

  4. Tratamento cirúrgico de malformação digital congénita do membro superior / Surgical treatment of a congenital arteriovenous malformation of the upper limb

    Scientific Electronic Library Online (English)

    Nelson, Oliveira; Luiza, Ferraz; Lisa, Borges; Emanuel, Dias; Fernando, Oliveira; Isabel, Cássio.

    2014-03-01

    Full Text Available Introdução: As malformações arteriovenosas (MAV) podem ter uma apresentação clínica e evolução imprevisíveis. Por isso, o seu tratamento é ainda um desafio entre as várias patologias vasculares. MAV’s das extremidades de localização muito periférica podem não ser amenizáveis por emboloterapia devido [...] ao risco elevado de necrose. Os autores apresentam um caso clínico de uma malformação arteriovenosa congénita do membro superior que foi abordado exclusivamente por cirurgia convencional. Caso clínico: Mulher de 27 anos sem antecedentes pessoais relevantes, seguida em consulta por malformação do 5º dedo da mão direita, com agravamento progressivo de queixas de dor, impotência funcional, deformidade do dedo da mão e incapacidade laboral. A doente foi submetida a uma ressecção da malformação arteriovenosa e laqueação dos principais ramos aferentes da MAV. Após um seguimento de 8 meses, a doente apresenta a incisão cirúrgica cicatrizada, sem impotência funcional do dedo e sem evidência clínica de recidiva. Conclusões: O tratamento cirúrgico das MAV digitais do membro superior pode ser realizado de forma curativa com conservação do dedo, com resultados estéticos e funcionais favoráveis. Abstract in english Introduction: Arteriovenous malformations (AVM) have a variety of clinical presentations and may evolve in unpredictable ways. Therefore, its management is still challenging. AVM’s with very peripheral location on the extremities, embolotherapy may be contraindicated due to the risk of necrosis. The [...] authors present a clinical case in which a finger AVM was treated surgically. Clinical case: A 27 year-old woman with a known AVM affecting the 5th finger of the right hand presented progressive pain, functional and cosmetic impairment of the finger, which significantly interfered with her professional occupation. A surgical procedure consisting of ligation of all the afferent vessels with complete nidus resection was performed. After 8 months of follow-up, the patient had a fully healed surgical incision, and was without any functional limitations or signs of clinical relapse. Conclusion: Surgical treatment of AVM affecting the fingers may be accomplished in a curative way with good cosmetic and functional outcomes.

  5. O impacto da interrupção da gravidez por mal formação congénita: a perspectiva do pai / The interruption of pregnancy due to congenital malformation: the father`s perspective

    Scientific Electronic Library Online (English)

    Lucília, Sousa; M. Graça, Pereira.

    Full Text Available Os avanços das técnicas de diagnóstico pré-natal, tornaram possível a identificação de alguns problemas de saúde do feto in-útero, e a determinação do risco da sua ocorrência, deixando aos pais a liberdade e responsabilidade de decidir acerca da saúde do feto, muito antes do seu nascimento. A comple [...] xidade de tais decisões coloca os casais numa encruzilhada, em que qualquer dos caminhos escolhidos marcará as suas vidas. As vivências do progenitor masculino têm sido quase ignoradas pelos investigadores, pelo que a experiência do pai continua a ser muito pouco conhecida. O presente estudo pretende conhecer e compreender os significados atribuídos pelo Pai à experiência de interrupção da gravidez, por anomalia fetal. Para isso recorremos a uma metodologia qualitativa (Grounded Theory). A amostra é constituída por 12 homens cujas esposas interromperam a gravidez no serviço de obstetrícia do Hospital S. Marcos em Braga. Os resultados apontam a interrupção de gravidez por malformação congénita, como uma experiência emocionalmente intensa, com um intenso envolvimento dos pais ao longo do processo. A tomada de decisão representou a confrontação de dúvidas e incertezas, de sentimentos ambivalentes e de dilemas morais, como consequência do investimento na gravidez e da relação afectiva que já existia com o feto. Os pais tendem a desvalorizar os seus sentimentos e as suas necessidades de apoio, centrando as suas preocupações na companheira. Os profissionais de saúde, na opinião dos pais, não só demonstram pouca sensibilidade face aos seus sentimentos e necessidades como constituem um obstáculo ao envolvimento do pai ao longo do processo. A partilha desta experiência com a esposa e o apoio mútuo entre o casal fortaleceu a relação. Os projectos de nova gravidez evidenciam a busca de um novo sentido de vida para estes pais. Estes resultados enfatizam a necessidade de um olhar mais atento sobre o impacto que este acontecimento tem na vida do pai e da importância dos profissionais de saúde neste processo. Abstract in english The development of prenatal diagnosis techniques have made possible the identification of some health problems in the inborn baby and the determination of the risk of such occurrence, leaving parents with the choice and responsibility of deciding about the fetus’ health long before the birth. The co [...] mplexity of such decisions places the couple in a crossroad and any of the chosen roads will impact their lives forever. The father´ s experience has been neglected by researchers and, as a result, their experience is not well known. This study aims to understand the meanings fathers give to the pregnancy interruption, due to congenital malformation, of their baby. A qualitative analysis was used (grounded theory). The sample includes 12 men whose wives terminated their pregnancy in the obstetric service of S. Marcos Hospital in Braga. Results show that pregnancy interruption due to congenital malformation is a very intense emotional experience, with a great involvement of fathers during the entire process. The decision making process required a confrontation of doubts and uncertainties, ambivalent feelings and moral dilemmas, as a consequence of the investment on the pregnancy and the emotional relationship that was already established with the baby. Fathers tend not to value their need for support, and centred all their worries on their mates. Health professionals, in their opinion, show low sensibility towards their feelings and needs and are seen as barriers to their involvement through the process. Sharing their experience with their mates and mutual support between the couple strengthen the marital relationship. The project of a new pregnancy revealed the search for a new meaning in these fathers’ lives. These results show the need to look in depth into the impact of this life event on the father´ s life and the role of health professionals in the process.

  6. Cor triatriatum sinistrum: estrategia diagnóstica y terapéutica / Cor triatriatum a rare congenital cardiac malformation of diagnostic difficulty

    Scientific Electronic Library Online (English)

    Alejandro, Bolio-Cerdán; Miguel Ángel, Medina-Andrade; Patricia, Romero-Cárdenas; Sergio, Ruiz-González; Carlos Max, Luna-Valdez; Javier, González-Peña.

    2007-02-01

    Full Text Available Introducción. El cor triatriatum sinistrum es una membrana fibromuscular anómala en aurícula izquierda que la divide en 2 cavidades, con grados variables de obstrucción. Material y métodos. Estudio retrospectivo, longitudinal y descriptivo, que muestra 10 pacientes tratados en el Hospital Infantil d [...] e México Federico Gómez en 26 años, diagnosticados con ecocardiografía. Resultados. En ningún caso fue necesario realizar estudios adicionales ya que la ecocardiografía fue definitiva en el diagnóstico. La media de edad fue 16.9 meses; distribución por sexos 1:1. Dos pacientes murieron. El seguimiento a largo plazo promedió 46.8 meses en los 8 pacientes restantes. Conclusión. La ecocardiografía fue diagnóstica e identificó anomalías cardiacas congénitas asociadas. El abordaje por atriotomía derecha permitió una excelente exposición, la resección de la membrana obstructiva y la resolución de defectos asociados, demostrando ser la medida terapéutica definitiva. Esta es la serie pediátrica más grande reportada en nuestro país a la fecha. Abstract in english Introduction. We define cor triatriatum sinistrum as an anomalous fibromuscular membrane in the left atrium which divides it into 2 cavities with variable degrees of obstruction. Material and methods. In this retrospective, longitudinal and descriptive study we show a series of ten patients treated [...] at the Hospital Infantil de Mexico in a 26 year-experience diagnosed by echocardiography. Results. No additional studies were necessary. Median age was 16.9 months; sex distribution was 1:1, registering mortality in 2 patients (20%). Long-term follow-up in 8 remaining patients had a mean of 46.8 months. Echocardiography is diagnostic and identifies associated congenital cardiac anomalies; right atriotomy approach provides excellent exposure and allows resection of the obstructive membrane. It also allows resolution of associated defects and is the preferential approach. Conclusion. This is the largest pediatric series reported to date in our country.

  7. Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita / Malformations detected by abdominal ultrasound in children with congenital heart disease

    Scientific Electronic Library Online (English)

    Rosana Cardoso Manique, Rosa; Rafael Fabiano Machado, Rosa; José Antônio Monteiro, Flores; Eliete, Golendziner; Ceres Andréia Vieira de, Oliveira; Marileila, Varella-Garcia; Giorgio Adriano, Paskulin; Paulo Ricardo Gazzola, Zen.

    2012-12-01

    Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC), trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (US [...] A), comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH) para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009), com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034). No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal. Abstract in english BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), co [...] mpare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. METHODS: We conducted a cross-sectional study with a control cohort. The cases consisted of patients with CHD admitted for the first time in a pediatric intensive care unit; the controls consisted of children without CHD who underwent AUS at the hospital shortly thereafter a case. All patients with CHD underwent AUS, high-resolution karyotype and fluorescence in situ hybridization (FISH) for microdeletion 22q11.2. RESULTS: AUS identified clinically significant abnormalities in 12.2% of the cases and 5.2% of controls (p= 0.009), with a power of significance of 76.6%. Most malformations with clinical significance were renal anomalies (10.4% in cases and 4.9% in controls; p= 0.034). In Brazil, the cost of an AUS examination for the Unified Health System is US$ 21. Since clinically significant abnormalities were observed in one in every 8.2 CHD patients, the cost to identify an affected child was calculated as approximately US$ 176. CONCLUSION: Patients with CHD present a significant frequency of abdominal abnormalities detected by AUS, an inexpensive and noninvasive diagnostic method with good sensitivity. The cost of screening for these defects is considerably lower than the cost to treat the complications of late diagnoses of abdominal malformations such as renal disease.

  8. Trimethoprim use before pregnancy and risk of congenital malformation : reanalyzed using a case-crossover design and a case-time-control design

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chun Sen

    2014-01-01

    PURPOSE: Studies on the safety of drugs used during pregnancy are necessary and important but prone to bias. Using cases as their own controls can reduce bias. We used a case-crossover design and a case-time-control design to estimate the risk of congenital malformation (CM) for children born to mothers who redeemed a trimethoprim prescription shortly before pregnancy. METHODS: The study was based on all live born singletons (N?=?685?600) in Denmark whose mothers had available information on prescriptions in the Danish National Prescription Registry between 1996 and 2008. We defined 1-3?months before pregnancy as a potential risk period and 13-15?months before pregnancy as a reference period. Two other reference periods were used (7-9?months before pregnancy and months 4-6 of pregnancy). The case-crossover design is dependent on the assumption of a stable trimethoprim prescription over the study period in the source population. To estimate the trend of trimethoprim prescriptions, we used a control group comprising children without CMs. RESULTS: Both study designs showed children had a higher risk of overall CM [odds ratio of 1.66, 95% confidence interval (CI): 1.10-2.53 and 1.50, 95%CI: 0.66-3.38, respectively] if their mothers had a trimethoprim prescription in the 3?months before pregnancy and subtypes of CM for example in the musculoskeletal system, which were consistent to the previous findings from a cohort study. CONCLUSIONS: This study corroborates that trimethoprim is a potential teratogen when used 3?months before pregnancy and demonstrates the value of case-only approaches for studying, for example, adverse effects of antibiotics in reproductive epidemiology. Copyright © 2014 John Wiley & Sons, Ltd.

  9. Carcinoma bronquíolo-alveolar associado a malformação congénita das vias aéreas pulmonares em adolescente assintomático / Bronchioloalveolar carcinoma associated with congenital pulmonary airway malformation in an asymptomatic adolescent

    Scientific Electronic Library Online (English)

    Francisco, Abecasis; Maria Gomes, Ferreira; Ana, Oliveira; Henrique Vaz, Velho.

    2008-03-01

    Full Text Available A malformação congénita das vias aéreas pulmonares (CPAM) é uma entidade rara com potencial de transformação maligna. Relata-se o caso de um rapaz de 14 anos, assintomático, referenciado à consulta após detecção de imagem nodular na base do pulmão direito num radiograma de tórax. A tomografia comput [...] orizada (TC) mostrou, no pulmão direito, formação redonda de média densidade com centro cavitado. Após um ano de seguimento, mantinha-se assintomático, sendo a imagem radiológica sobreponível. Em conjunto com a equipa de cirurgia cardiotorácica foi decidido proceder a biópsia excisional. O exame histológico revelou um carcinoma bronquíolo-alveolar mucinoso associado a CPAM tipo 1. Perante este resultado, o doente foi submetido a lobectomia inferior direita. No exame histológico do restante lobo, não se identificou tumor ou malformação residuais. Mantém-se assintomático e sem complicações passados dois anos. Tanto quanto é do conhecimento dos autores, este é o primeiro caso desta rara associação em Portugal. Discute-se a abordagem de lesões quísticas em doentes assintomáticos. Abstract in english Congenital pulmonary airway malformation (CPAM) is a rare entity with potential for malignant transformation. We describe the case of a fourteen-year-old boy evaluated for the presence of a nodular image on the right lung on the chest x-ray. Computerized Tomography (CT) showed a round lesion of medi [...] um density with cavitation on the right lung. After one year of follow-up the patient was still asymptomatic and the image was similar. With the agreement of the cardiothoracic surgeons an excisional biopsy was performed. The histological examination revealed a mucinous bronchioloalveolar carcinoma associated with a type 1 CPAM. The patient was then submitted to right inferior lobectomy. After two years follow-up he is asymptomatic and free of complications. To the authors best knowledge this is the first case reported in Portugal of this rare association. The approach to cystic lesions in asymptomatic patients is discussed.

  10. Procesos embrionarios y malformaciones congénitas. Revisión con reporte de casos / Embryonic processes and congenital malformations. Review with case reports

    Scientific Electronic Library Online (English)

    Luis, Cervantes Parra; Alfonso, Londoño Orozco; Marco, Nieto García; Ricardo, Gutiérrez De Aguas.

    2012-06-01

    Full Text Available Los procesos fundamentales de la dinámica embrionaria en el reino animal, y particularmente en los vertebrados, obedecen a un programa genético que solo ha comenzado a comprenderse en los últimos años. Uno de los principales objetivos de los biólogos del desarrollo es develar el misterio de cómo un [...] oocito, después de ser fecundado, se transforma en un organismo multicelular. Esta dinámica requiere la activación de un complejo programa de desarrollo en el que genes específicos se expresan en una secuencia temporal precisa, y en la ubicación correcta, para dar origen a diferentes tipos de tejidos como la piel, músculos y nervios, entre otros. Mediante el estudio de mutantes en Drosophila se han identificado genes que participan en la organización del patrón de desarrollo del embrión, los cuales son activos en las hembras. Asimismo, en los últimos años, gracias a las técnicas moleculares, se han realizado grandes avances en el conocimiento de los mecanismos que controlan este intrincado proceso. Este trabajo plantea diversos aspectos relacionados con la teratogenia asociada a la gastrulación, periodo que es muy sensible a las agresiones, así como el aporte de casos y un análisis de los avances en el conocimiento de los procesos moleculares implicados en la dinámica embrionaria. Abstract in english The fundamental processes of embryonic dynamics in the animal kingdom and particularly in vertebrates are due to a genetic program that has begun to be understood in recent years. One of the developmental biologists' main goals is to unravel the mystery of how after being fertilized an oocyte become [...] s a multicellular organism. This dynamic requires activation of a complex development program in which genes are expressed in a temporal, precise sequence and in the correct location to give rise to different types of tissues such as skin, muscles and nerves among others. The genes involved in the embryo development pattern, active in females, have been identified by studying Drosophila mutants. Also, thanks to molecular techniques, advances in understanding the intricate mechanism that control this process have been significant in recent years. This work raises several issues related to teratogenicity associated with gastrulation, embryonic stage sensitive to damages. Also, this work provides study cases and a review of the progress in the understanding of molecular processes involved in embryonic dynamics.

  11. Congenital aplasia of the optic chiasm and esophageal atresia: a case report

    OpenAIRE

    Madonia Maurizio; Michieletto Paola; Pelizzo Gloria; Cecchini Paolo; Pensiero Stefano; Parentin Fulvio

    2011-01-01

    Abstract Introduction The complete absence of the chiasm (chiasmal aplasia) is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic cases, it is frequently associated with cardiac, limb, renal or vertebral malformations an...

  12. Prevalencia de malformaciones congénitas registradas en el certificado de nacimiento y de muerte fetal: México, 2009-2010 / Prevalence of congenital malformations recorded on the birth certificate and fetal death, Mexico, 2009 to 2010

    Scientific Electronic Library Online (English)

    Eduardo, Navarrete Hernández; Sonia, Canún Serrano; Aldelmo E., Reyes Pablo; María del Carmen, Sierra Romero; Javier, Valdés Hernández.

    2013-12-01

    Full Text Available Introducción. Las malformaciones congénitas son causas importantes de mortalidad infantil, enfermedad crónica y discapacidad en muchos países. La frecuencia esperada es de 2 a 3% en nacidos vivos y de 15 a 20% en muertes fetales. En México, en 2010, la mortalidad infantil ocupó el segundo lugar, con [...] una tasa de 336.3/100,000 nacimientos. El objetivo de este trabajo fue estimar la prevalencia de malformaciones congénitas en México al nacimiento y las principales causas registradas en los certificados de nacimiento y muerte fetal para el período 2009-2010. Métodos. Se conjuntaron las bases de datos del certificado de nacimiento de nacido vivos y del de muerte fetal. Resultados. La población total fue de 4'123,531 registros, 99.3% nacidos vivos y 0.7% muertes fetales. Se registró un total de 30,491 casos de malformaciones congénitas en 91.7% nacidos vivos y 8.3% muertes fetales. La prevalencia fue de 73.9/10,000 nacimientos. Conclusiones. La tasa de prevalencia fue más baja que la esperada. Se requieren programas de validación y capacitación para fortalecer estos sistemas de registro. Abstract in english Background. Congenital malformations are a main cause of infant death, chronic illness and disability in several countries. The expected frequency is ~2-3% in live newborns and ~15-20% in stillbirths. In 2010 in Mexico, infant mortality ranked in second place with a rate of 336.3/100,000 births. In [...] order to estimate prevalence and main causes of congenital malformations in live births and stillbirths, national base registries of newborns and stillbirths were evaluated for 2009-2010. Methods. Databases of neonatal live births and fetal deaths were combined. Results. From a total population of 4,123,531 certificates, 99.3% were live born and there were 0.7% fetal deaths. Congenital malformations were registered in 30,491 cases, 91.7% of live newborns and 8.3% of fetal deaths with a prevalence rate of congenital malformations of 73.9/10,000. Conclusions. The reported prevalence was lower than expected. It is necessary to enforce registry systems through system validation and training of personnel.

  13. Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment

    Directory of Open Access Journals (Sweden)

    Jazmín Arteaga-Vázquez

    2012-12-01

    Full Text Available OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC en hijos de madres epilépticas (HME tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE. RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3% que en HME no tratadas (28.3%; (RM= 2.37 IC95% 1.08-5.40, p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento.OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM in newborns of epileptic mothers (NEM treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE. RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3% than in NEM of untreated mothers (28.3%, (OR= 2.37 IC95% 1.08-5.40, p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

  14. Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes / Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment

    Scientific Electronic Library Online (English)

    Jazmín, Arteaga-Vázquez; Leonora, Luna-Muñoz; Osvaldo M, Mutchinick.

    2012-12-01

    Full Text Available OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC) en hijos de madres epilépticas (HME) tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico [...] de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3%) que en HME no tratadas (28.3%); (RM= 2.37 IC95% 1.08-5.40), p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento. Abstract in english OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, i [...] n 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

  15. Supratentorial CNS malformations

    International Nuclear Information System (INIS)

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain aatures in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the pathogenetic processes leading to the disorder in a given patient. Certain anomalies previously thought to be isolated have proven to be associated with one or more other brain malformations. When one CNS malformation is found expanded scrutiny of the whole of the whole brain for further anomalies is required. Learning objectives: 1) To describe what the radiologist should know about supratentorial anatomy and embryology; 2) To discuss some of the pitfalls in MR imaging in malformations of cortical development; 3) To show the spectrum of imaging findings of supratentorial CNS malformations

  16. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections or radiation during pregnancy interferes with brain development. Types of brain malformations include missing parts ...

  17. Routine ultrasound examination at 12 or 18 gestational weeks for prenatal detection of major congenital heart malformations? A randomised controlled trial comprising 36 299 fetuses.

    OpenAIRE

    Westin, Maria-dorothea; Saltvedt, S.; Bergman, G.; Kublickas, M.; Almstrom, H.; Grunewald, C.; Valentin, Lil

    2006-01-01

    Objective To compare the rate of prenatal diagnosis of heart malformations between two policies of screening for heart malformations. Design Randomised controlled trial. Setting Six university hospitals, two district general hospitals. Sample A total of 39 572 unselected pregnancies randomised to either policy. Methods The 12-week policy implied one routine scan at 12 weeks including measurement of nuchal translucency (NT), and the 18 week policy implied one routine scan at 18 weeks. Fetal an...

  18. Interventional treatment of pulmonary arteriovenous malformations

    OpenAIRE

    Poul Erik Andersen; Anette Drøhse Kjeldsen

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the ge...

  19. Congenital absence of the portal vein in a child with Turner syndrome

    International Nuclear Information System (INIS)

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  20. Hemangiomas and Vascular Malformations: Current Theory and Management

    OpenAIRE

    Friedman, Adva B.; Richter, Gresham T.

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practic...

  1. Malformação adenomatoide cística congênita: características clínicas, conceitos patológicos e tratamento em 172 casos / Congenital cystic adenomatoid malformation: clinical features, pathological concepts and management in 172 cases

    Scientific Electronic Library Online (English)

    Verónica, Giubergia; Marcelo, Barrenechea; Mónica, Siminovich; Hebe Gonzalez, Pena; Patricia, Murtagh.

    2012-04-01

    Full Text Available OBJETIVO: A malformação adenomatoide cística congênita (MACC) é a malformação pulmonar ressecada cirurgicamente mais comum em crianças. Este estudo retrospectivo foi realizado para apresentar a experiência de 172 casos de MACC em um hospital pediátrico. MÉTODOS: Séries publicadas com um pequeno núme [...] ro de pacientes relatam detalhes de lesões, evolução e tratamento. Como este estudo lida com características clínicas, evolução e procedimentos cirúrgicos em 172 crianças com diagnóstico de MACC, a população inclui casos tratados e acompanhados em um hospital pediátrico ao longo de 25 anos (1986-2011). RESULTADOS: A idade média ao diagnóstico foi de 48 meses (r = 0,03-213), 52% (n = 90) eram do sexo masculino. Os sintomas de apresentação mais comuns foram dificuldade respiratória em crianças com menos de 6 meses de idade (40%) e pneumonia recorrente nas que tinham mais idade (75%; p = 0.001). Lobectomia foi o procedimento de escolha na maioria dos casos. Todos os tipos histológicos foram encontrados: 1 (70%), 2 (24%), 4 (4%) e 0 e 3 (n = 1). Foi observado um padrão misto em nove pacientes. Foram encontradas anomalias associadas em 47% das crianças. A mais frequente foi sequestro (71%), mais presente na MACC tipo 2 (p = 0,001). As anomalias mais graves se relacionaram principalmente com o tipo 2 (p = 0,008). Também foram observados um blastoma pleuropulmonar e um carcinoma broncoalveolar. A mortalidade foi de 5% (n = 9). Os fatores de risco para mortalidade foram falência respiratória (OR = 25,7 [IC95% 3,2-221]; p = 0,03), sepse (OR = 9,9 [IC95% 8,2-12]; p = 0,002), necessidade de assistência respiratória (OR = 9,5 [IC95% 2,3-37]; p = 0,04) e diversas comorbidades associadas (OR = 3,3 [IC95% 1,2-22]; p = 0,008). CONCLUSÕES: Foram observadas anomalias relacionadas em quase metade da população. Devido à possibilidade de infecção recorrente ou desenvolvimento de neoplasias, deve-se considerar a ressecção cirúrgica quando MACC for diagnosticada. O desfecho cirúrgico é favorável e apresenta complicações tratáveis. Abstract in english OBJECTIVE: Congenital cystic adenomatoid malformation (CCAM) is the most common surgically resected pulmonary malformation in children. This retrospective study was undertaken to present the experience of 172 CCAM cases in a pediatric hospital. METHODS: Published series with a small number of patien [...] ts reports details of lesions, progress and management. As this study addresses clinical characteristics, progress and surgical procedures in 172 children with CCAM diagnosis, the population includes cases treated and followed up in a pediatric hospital throughout 25 years (1986-2011). RESULTS: Mean age at diagnosis was 48 months (r = 0.03-213), 52% (n = 90) were male. The most common presenting symptoms were respiratory distress in children under 6 months of age (40%) and recurrent pneumonia in older ones (75%; p = 0.001). Lobectomy was the procedure of choice in the majority. All histological types were found: 1 (70%), 2 (24%), 4 (4%), and 0 and 3 (n = 1). A mixed pattern was observed in nine patients. Associated anomalies were found in 47% of children. The most frequent was sequestration (71%), mostly present in CCAM type 2 (p = 0.001). Severe anomalies were mostly related to type 2 (p = 0.008). A pleuropulmonary blastoma and a bronchioloalveolar carcinoma were also observed. Mortality was 5% (n = 9). Risk factors for mortality were respiratory failure (OR = 25.7 [95%CI 3.2-221]; p = 0.03), sepsis (OR = 9.9 [95%CI 8.2-12]; p = 0.002), respiratory assistance requirements (OR = 9.5 [95%CI 2.3-37]; p = 0.04), and severe associated comorbidities (OR = 3.3 [95%CI 1.2-22]; p = 0.008). CONCLUSIONS: Related anomalies were observed in almost half of the population. Due to the possibility of recurrent infection or development of malignancies, surgical resection should be considered when CCAM is diagnosed. Surgical outcome is favorable with manageable complications.

  2. Congenitally corrected transposition

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    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  3. Acquired Chiari Malformation: Safety of Neuraxial Anesthesia?

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    Twinkal P. Dalal

    2013-01-01

    Full Text Available Chiari malformation is a congenital anomaly that primarily involves the downward displacement of the cerebellar tonsils through the foramen magnum and elongation of forth ventricle and lower brainstem. Patients with Chiari I (congenital or acquired malformation are asymptomatic or may presents with neurologic signs and symptoms. It is always a question of safety of neuraxial anesthesia in these patients. There is potential risk of dural puncture that can initiate the neurologic symptoms or worsen the existing symptoms due to CSF leakage or tonsillar herniation. Other side, performance of neuraxial anesthesia can cause acquired Chiari I type malformation due to CSF leak and intracranial hypotension. We reviewed the case reports and articles regarding safety of neuraxial anesthesia in the setting of Congenital or Acquired Chiari malformation.

  4. Morbilidad y mortalidad por malformaciones congénitas del sistema nervioso central en menores de un año / Morbidity and mortality caused by congenital malformations of the central nervous system in children under a year

    Scientific Electronic Library Online (English)

    Irina, Guzmán Sancho; Farah María, Ricardo Saint-Félix; Arianne, Muguercia Fornaris; Ricardo, García Álvarez; Suleidis, Vega Sams.

    1671-16-01

    Full Text Available Se realizó un estudio descriptivo, transversal y retrospectivo durante 2012 de 46 pacientes con malformaciones congénitas del sistema nervioso central, pertenecientes a la provincia de Santiago de Cuba, con vistas a caracterizar aspectos relacionados con la morbilidad y la mortalidad por esta causa. [...] El municipio Santiago de Cuba fue el de mayor incidencia y la hidrocefalia la anomalía más frecuente; asimismo, la mortalidad fetal e infantil por estos defectos presentó tasas de 0,3 y 0,1, respectivamente. Se demostró que dichas malformaciones tienen baja incidencia en estos indicadores, lo cual confirma la importancia del diagnóstico prenatal Abstract in english A descriptive, cross-sectional and retrospective study was carried out during 2012 in 46 patients with congenital malformations of the central nervous system, belonging to Santiago de Cuba province, with the aim of characterizing aspects related to the morbidity and the mortality for this cause. San [...] tiago de Cuba municipality was that of higher incidence, and hydrocephaly the most frequent anomaly; also, the fetal and child mortality obtained for these defects showed rates of 0.3 and 0.1, respectively. It was demonstrated that this malformations have low incidence in these indicators, which confirms the importance of the prenatal diagnosis

  5. Congenital malformations induced by ionizing radiation in mouse embryos: investigating molecular changes. Doctoral Thesis Prepared at SCK-CEN and Defended in 2006

    International Nuclear Information System (INIS)

    Irradiation of the mammalian embryo during development results in diverse effects depending on the dose and the specific gestational phase at irradiation. In this work cellular and molecular changes associated with X-irradiation of embryos were therefore investigated at both early and late gestational stages at the moment of radiation exposure. Our goal was to find biological markers indicative of teratogenic effects of radiation, and provide a holistic model of the impact of irradiation during early and late development. In the first part of this doctoral thesis, we investigated telomere length in the irradiated and non-irradiated embryos bearing different p53 genotypes and malformation status as telomere shortening was associated with neural tube defects in mTR-/- embryos. Moreover, the loss of telomere function has been shown to elicit DNA damage checkpoints and p53-dependent apoptosis in vitro. We conclude that telomere shortening is associated with the malformation status as well with the p53 genotype. These data assign telomere length as a potential predictor of a malformed phenotype, a feature that is modulated according to the p53 genotype and the developmental stage at the moment of irradiation. In the second part of this work, we focused on a specific malformation phenotype, namely: forelimb defect. To identify potential genes involved in the radiation-induced forelimb teratogenesis, we investigated differential gene expression between irradiated and non-irradiated fetuses using RT-q-PCR. The results indicate that forelimb defects observed in p53 wild type fetuses irradiated at the organogenesis period was due to excessive cellular death as shown by the high expression of the pro-apoptotic factors caspase-3 and Bax. This suggestion was supported by the positive TUNEL assay performed on forelimb tissue sections of malformed irradiated fetuses. Moreover, overexpression in malformed fetuses of MKK3 and MKK7, both members of the stress-activated MAP kinase family, could be involved in radiation-induced apoptosis through activation of the p38 and JNK pathways, respectively. To further evaluate the biomarker value of telomere length in this forelimb defect phenotype, we assessed telomere length in normal fetuses versus abnormal ones with forelimb defects. We found that irradiated fetuses exhibiting forelimb defects showed a marked telomere shortening confirming our first findings, which showed an association between various malformations and telomere shortening. Knowing that oxidative stress and inflammation are potential accelerators of telomere attrition, and taking into account that amniotic fluid is the most accessible fetal material, we decided to explore cytokine secretion in the amniotic fluid of normal and malformed fetuses. Our results showed a considerable inflammatory reaction among the irradiated fetuses, as revealed by the high presence of pro-inflammatory cytokines. Finally, all these results indicate that insufficiency or excess of apoptosis is probably the central process behind radiation-induced malformations. Moreover, apoptosis is strongly related to p53, which upon signaling modulates cell death response according to the developmental stage at which exposure to radiation has occurred. Furthermore, in the context of this work, telomere shortening as well as the differential gene expression described and the high pro-inflammatory cytokines measured may constitute potential indicators of the teratogenic status of the embryos after radiation exposure

  6. Controversies in choledochal malformation

    Scientific Electronic Library Online (English)

    J J, Atkinson; M, Davenport.

    2014-11-01

    Full Text Available Choledochal malformations (some of which are choledochal cysts) may be characterised as an abnormal dilatation of the biliary tract in the absence of acute obstruction. Most appear to be of congenital origin, probably related to distal bile duct stenosis, and almost 15% can now be detected antenatal [...] ly. Excision and biliary reconstruction using a Roux loop as an open operation is still the standard to compare against, although laparoscopic reconstruction is increasingly reported. This article discusses recent advances in the understanding of choledochal malformation aetiology and classification, together with the role of newer modalites of surgical treatment such as laparoscopic excision and biliary reconstruction. Although these are definitely feasible, care should be taken before dispensing with standard open techniques that have minimal complications and proven long-term benefit.

  7. Os profissionais de Enfermagem diante do nascimento da criança com malformação congênita Los profesionales de Enfermería en el nacimiento de un niño con malformación congénita Nursing professionals before of the birth of a child with congenital malformation

    Directory of Open Access Journals (Sweden)

    Iêda Maria Ávila Vargas Dias

    2007-03-01

    Full Text Available Estudo de natureza qualitativa utilizou o Método História de Vida e teve por objeto de estudo a percepção da equipe de enfermagem de sua experiência em atuar no nascimento de uma criança portadora de malformação congênita. Os resultados permitiram a construção de três categorias temáticas: a percepção da equipe de enfermagem ao assistir o nascimento de uma criança com malformação congênita; as estratégias empregadas pela equipe de enfermagem; e os fatores que influenciam a atuação da equipe. O estudo evidenciou que a experiência de atuar no nascimento de criança malformada é percebida tanto como uma experiência prazerosa e gratificante quanto como uma experiência estressante e incômoda. A percepção dessa experiência é influenciada pela história de vida do indivíduo; processo de formação do profissional; tempo de atuação e suporte institucional em relação aos aspectos técnicos, científicos e emocionais.Estudio de naturaleza cualitativa que utilizó el Método Historia de Vida y tuvo por objeto de estudio la percepción del equipo de enfermería a través de la experiencia en actuar al nacimiento de un niño portador de malformación congénita. Los resultados permitieron la construcción de tres categorías temáticas: La percepción del equipo de enfermería al asistir el nacimiento de un niño con malformación congénita; Las estrategias empleadas por el equipo de enfermería; y los factores que influencian la actuación del equipo. El estudio evidenció que la experiencia de actuar en el nacimiento de un niño malformado es percibida tanto como una experiencia que da placer y que gratifica, así como una experiencia estresante e incómoda. La percepción de esa experiencia es influenciada por la historia de vida del individuo; proceso de formación del profesional; tiempo de actuación y soporte institucional en relación a los aspectos técnicos, científicos y emocionales.Study of qualitative nature that used the History of Life Method and had as study subject the perception of the nursing staff about the experience acting in a child's birth with congenital malformation. The result allowed the construction of three thematic categories: the perception of the nursing staff when attending a child's birth with congenital malformation; the strategies used by the nursing team; and the factors that infuse on the performance of the team. The study evidenced that the experience of acting in malformed child's birth is noticed as much a pleased and gratifying experience, as a stressful and uncomfortable experience. The perception of that experience is influenced by the history of the individual's life; process of the professional's formation; time of performance and institutional support, concerning to the relation to the technical aspects, scientific and emotional ones.

  8. Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development; Kongenitale Malformationen des Grosshirns. Teil 1: Entwicklungsstoerungen des Kortex

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany); Institut fuer klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Marchioninistrasse 15, 81377, Muenchen (Germany); Rummeny, C.; Reiser, M.F. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany)

    2003-11-01

    Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.) [German] Entwicklungsstoerungen des Kortex werden in der Regel eingeteilt in Stoerungen der zellulaeren Proliferation und Apoptose, der neuronalen Migration und der kortikalen Organisation. Basierend auf neueren molekularbiologischen und histopathologischen Erkenntnissen wurde vor kurzem eine modifizierte Klassifikation eingefuehrt. Zu den Stoerungen der neuronalen und glialen Proliferation und Apoptose werden nun die Mikrolissenzephalie und andere Formen der Mikrozephalie, die Megalenzephalien, die kortikalen Hamartome der tuberoesen Sklerose, die kortikalen Dysplasien mit Ballonzellen und die Hemimegalenzephalie gezaehlt. Zu den neuronalen Migrationsstoerungen rechnet man das Spektrum der Lissenzephalien, einschliesslich der bandfoermigen Heterotopien, die Pflastersteinlissenzephalien sowie die Gruppe der Heterotopien. Unter Organisationsstoerungen des Kortex subsumiert man den Komplex aus Polymikrogyrie und Schizenzephalie sowie die kortikalen Dysplasien ohne Ballonzellen. Hoch aufloesende magnetresonanztomographische Untersuchungen erlauben in zunehmendem Masse einen Nachweis der kortikalen Entwicklungsstoerungen. Dieser Artikel soll die MR-tomographischen Charakteristika und relevanten klinischen Symptome der Entwicklungsstoerungen des Kortex illustrieren. (orig.)

  9. [Oto-vertebral syndrome].

    Science.gov (United States)

    Böggering, B

    1975-10-23

    The oto-vertebral syndrome is supposed to be caused by an early embryonic exogenous damage which at the same time affects the development of the ear and vertebral column and possibly also causes cardiac anomalies. Animal studies showed that the malformation syndrome originates in the 6th-7th week of embryonic development. The extent of the malformations of the ear and the vertebral column varies. Frequently seen are dysplasia of the external ear and dystopia and atresia of the external ear canal as well as vertebral malformations, mostly involving the thoracic region. Only 4 case reports have been published in the literature. The differential diagnosis includes Goldenhar-syndrome, oculo-vertebral syndrome. Thalidomide-syndrome and chromosomal aberrations. Therapy depends on the extent of the malformations. In case of atresia of the ear canal hearing is first of all improved with a hearing aid, operative procedures are to be planned later on. Child development is promoted with acustic stimulation. PMID:1225802

  10. Anorectal malformations in children

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    Bhargava Pranshu

    2006-01-01

    Full Text Available Background/Purpose: Anorectal malformations are one of the most common congenital defects. This study was undertaken to study the hospital incidence of anorectal malformations (ARM, frequency of various types of defects, their sex distribution and the spectrum of anomalies associated with ARM. The effect of presence of an associated defect on mortality and morbidity was also studied. Materials and Methods: One hundred consecutive children attending the pediatric surgery department were included in this study. A detailed history was taken, and examination was performed for the primary as well as the associated defects. Appropriate investigations like invertogram, cologram were done wherever indicated. Management was as per the standard protocol. The data was recorded and analyzed. Results: Out of the 100 patients, 51 were males and 49 females. One out of every 6.62 admission was for ARM. Twenty percent of the female babies had high, 76% intermediate and 4% had low anomalies, whereas 80.39% males had high, 3.92% intermediate and 15.6% showed low malformations. Ten percent of the patients had pouch colon. Associated anomalies were seen in 33 patients - 20 males and 13 females; 19 in high, 10 in intermediate, 1 in low group and 3 children with cloacal malformations. Associated defects seen were urogenital (17%, cardiovascular (7%, gastrointestinal (9%, genital (5% and limb defects (7%. There were 8 deaths, and complications were seen in 13 patients. Ten patients had two or more defects associated with ARM. Conclusions: Anorectal malformations occurred equally in males and females. Females had intermediate defects more frequently, rectovestibular fistula being the commonest. Males were more likely to have high lesions; anorectal agenesis without fistula was the commonest defect. The most common associated defects seen were vesicoureteric reflux and esophageal atresia. Complications were seen more commonly in males with high lesions. There was a significant association between presence of an associated defect and mortality and morbidity.

  11. A study on the progression of congenital scoliosis and the experimental production of the congenital scoliosis induced by 60Co irradiation in rats

    International Nuclear Information System (INIS)

    In order to clarify the pathological mechanism of the development of congenital spinal deformities, seventy six cases with congenital spinal deformity were analysed clinically, and vertebral anomalies were produced experimentally in rats of the Wistar strain by giving 60Co irradiation (200 R) to the mother in the ninth, tenth and eleventh days of the pregnancy. The congenital vertebral anomalies were classified embryologically into the following eight groups, (1) Wedge vertebra, (2) Fused wedge vertebra, (3) Hemivertebra, (4) Fused hemivertebra, (5) Unilateral segmental failure, (6) Bilateral segmental failure, (7) Butterfly vertebra and (8) Mixed type. Out of these anomalies, the unilateral segmental failure and the imbalanced multiple hemivertebrae and wedge vertebrae proved to show a marked development of the scoliotic deformities. Vertebral anomalies were confirmed in 26 of the 101 newborn infants whose mothers were treated with 60Co irradiation in the 10th or 11th day of the pregnancy. The vertebral anomalies were either unilateral segmental failure or butterfly vertebrae located mostly at the lower thoracic, lumbar or sacral spine. A scoliotic deformity of the spine developed during the rapid growth of the body in all rats with unilateral segmental failure. From the histological examinations, it was revealed that the asymmetrical potency of the growth in the malformed vertebra was a factor causing the spinal deformities. (auth.)he spinal deformities. (auth.)

  12. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

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    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation. Characteristic imaging features of complex Chiari malformation, especially obex level, permit its distinction from the more common uncomplicated Chiari 1 malformation. (orig.)

  13. Características das crianças nascidas com malformações congênitas no município de São Luís, Maranhão, 2002-2011 / Characteristics of children born with congenital malformations in São Luís, Maranhão, Brazil, 2002-2011

    Scientific Electronic Library Online (English)

    Lívia dos Santos, Rodrigues; Rômulo Henrique da Silva, Lima; Luciana Cavalcante, Costa; Rosângela Fernandes Lucena, Batista.

    2014-06-01

    Full Text Available OBJETIVO: descrever as características dos nascidos vivos com malformação congênita em São Luís-MA, Brasil, no período de 2002 a 2011. MÉTODOS: estudo descritivo baseado nos dados do Sistema de Informações sobre Nascidos Vivos (Sinasc). RESULTADOS: dos 180.298 nascidos vivos, 875 (0,49%) apre [...] sentaram algum tipo de malformação, principalmente do aparelho osteomuscular (48,0%); os nascidos vivos, em sua maioria, foram a termo (83,7%), com peso adequado (76,4%), do sexo masculino (54,9%) e com escores de Apgar satisfatórios no 1o (71,3%) e 5o minutos (88,9%), nascidos de mães na faixa etária de 20 a 34 anos (71,6%), solteiras (62,5%), com 8 a 11 anos de estudo (58,7%), de gravidez única (97,9%) e por parto cesáreo (54,8%). CONCLUSÃO: observou-se aumento na frequência de casos registrados no período estudado; entretanto, sugere-se a realização de novos estudos para que seja possível esclarecer se ocorreu melhoria do sistema de notificação ou aumento dos casos. Abstract in english OBJECTIVE: to describe the characteristics of children born with congenital malformations in São Luis-MA, Brazil, between 2002-2011. METHODS: a descriptive study using data from the Live Birth Information System. RESULTS: 875 (0.49%) of the 180,298 live births in the period had some type of m [...] alformation, mostly in the musculoskeletal system. The main findings were: mothers in the 20-34 age group (71.6%), single mothers (62.5%), mothers with 8-11 years of education (58.7%), only one pregnancy (97.9%) and cesarean delivery (54.8%). Newborns were mostly term (83.7%), normal weight (76.4%), male (54.9%) and satisfactory Apgar scores at the 1st (71.3%) and 5th minute (88.9%). CONCLUSION: congenital malformations continue to be a public health problem. In this study it was observed that during the study period there was an increase in reported case frequency. However, we suggest further studies be conducted to clarify whether the notification system improved or there was an increase in cases.

  14. Congenital cardiac anomalies in myelomeningocele patients

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    Iman Moeini Naghani

    2014-11-01

    Full Text Available Objective. Myelomeningocele may be isolated but more frequently is associated with other anomalies. Congenital heart disease occurs with different incidence rate in myelomeningocele which is observed more frequently with skeletal malformations. Methods. This study was undertaken in the Children’s Hospital Medical Center between 2010 to 2012 to evaluate 75 myelomeningocele patients for cardiac anomalies, with electrocardiography and echocardiography in addition to clinical examination of the cardiopulmonary system. Demographic information, myelomeningocele location and characteristics, orthopedic deformities, neurological deficits and radiographic findings were studied besides cardiologic assessments. Results. The ages of the patients ranged from 1 day to 4 years. The myelomeningocele locations were lumbosacral, lumbar and sacral area in most cases. Physical examination of the heart was abnormal in 6 children, but echocardiography revealed cardiac anomalies in only two children. Both children were female patients with severe scoliosis, multiple rib deficiencies and associated vertebral anomalies. Conclusion. Congenital heart defects are not very common in MMC patients. Female patients with suspicious clinical examinations for cardiac anomalies and associated rib and vertebral anomalies are advised to be investigated by echocardiography to rule out associated cardiac anomalies.

  15. Environmental aspects of congenital scoliosis.

    Science.gov (United States)

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis. PMID:25628116

  16. Management of perinatal lung malformations.

    Science.gov (United States)

    Macardle, C A; Kunisaki, S M

    2015-02-01

    This review uses the most up-to-date literature to help guide obstetrical providers through the diagnosis and management of perinatal lung malformations. These lesions, which include congenital pulmonary airway malformation [CPAM, formerly congenital cystic adenomatoid malformation (CCAM)] and bronchopulmonary sequestration (BPS), are relatively rare but are becoming increasingly common because of the improved resolution and enhanced sensitivity of fetal ultrasound. Serial assessment throughout pregnancy remains the norm rather than the exception. Perinatal management strategies can differ based on the sonographic characteristics and dynamic growth patterns of lung masses. Fetal magnetic resonance imaging and other diagnostic testing can sometimes be helpful in providing additional prognostic information. Over the last decade, the importance of echocardiography and utility of maternal steroids have been recognized in cases of non-immune hydrops. Fetal surgery is now rarely performed. Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformations may require urgent surgical removal in the early postnatal period because of respiratory distress. Other complications, such as recurrent pneumonia, pneumothorax, and cancer, are indications for lung resection on an elective basis. In the vast majority of cases, the overall prognosis remains excellent. PMID:25310108

  17. Obstetric outcomes in women with mullerian duct malformations

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    Padmasri Ramalingappa

    2014-02-01

    Conclusions: Women with congenital uterine malformation usually have higher incidence of complications during pregnancy and delivery. Early diagnosis and treatment can improve obstetric outcomes. [Int J Reprod Contracept Obstet Gynecol 2014; 3(1.000: 127-133

  18. El riesgo de malformaciones congénitas y defectos de la programación genómica, en relación con las técnicas de reproducción asistida y la clonación The risk of congenital malformations and genomic imprinting defects in assisted reproductive technologies and nuclear transfer cloning

    Directory of Open Access Journals (Sweden)

    Carlos Y Valenzuela

    2005-09-01

    Full Text Available Recent studies show that assisted reproductive technologies (ART, whether in vitro fertilization (IVF or intra-cytoplasmatic sperm injection (ICSI or applied to cloning by somatic cell nuclear transfer (SCNT are associated to a higher risk of congenital malformations and errors in deprogramming, maintenance or reprogramming genomic imprinting in humans and animals. IVF and ICSI are also associated to an increased admission to neonatal intensive care units and more need for health care resources in infancy. A mutagenic effect of a chemical used in SCNT has been reported and gene depression was found in bovine embryos obtained by IVF or SCNT. The causes of these anomalies could be pathological conditions for which ART is applied, a direct effect of technologies on the zygotes or embryos, avoidance for zygotes or embryos of the oviduct path that is needed to elicit necessary immunity or genomic programming processes, or adaptive selective steps acquired during thousands of millions of generations in evolution. The knowledge of evolution is emphasized as essential in the scientific ethical analysis (Rev Méd Chile 2005; 133: 1075-80.

  19. El riesgo de malformaciones congénitas y defectos de la programación genómica, en relación con las técnicas de reproducción asistida y la clonación / The risk of congenital malformations and genomic imprinting defects in assisted reproductive technologies and nuclear transfer cloning

    Scientific Electronic Library Online (English)

    Carlos Y, Valenzuela.

    2005-09-01

    Full Text Available [...] Abstract in english Recent studies show that assisted reproductive technologies (ART), whether in vitro fertilization (IVF) or intra-cytoplasmatic sperm injection (ICSI) or applied to cloning by somatic cell nuclear transfer (SCNT) are associated to a higher risk of congenital malformations and errors in deprogramming, [...] maintenance or reprogramming genomic imprinting in humans and animals. IVF and ICSI are also associated to an increased admission to neonatal intensive care units and more need for health care resources in infancy. A mutagenic effect of a chemical used in SCNT has been reported and gene depression was found in bovine embryos obtained by IVF or SCNT. The causes of these anomalies could be pathological conditions for which ART is applied, a direct effect of technologies on the zygotes or embryos, avoidance for zygotes or embryos of the oviduct path that is needed to elicit necessary immunity or genomic programming processes, or adaptive selective steps acquired during thousands of millions of generations in evolution. The knowledge of evolution is emphasized as essential in the scientific ethical analysis (Rev Méd Chile 2005; 133: 1075-80).

  20. Obstetric outcomes in women with mullerian duct malformations

    OpenAIRE

    Padmasri Ramalingappa; Urvashi Bhatara; Jayashree Seeri; Priyadarshini Bolarigowda

    2014-01-01

    Background: Congenital uterine anomalies are associated with the highest incidence of reproductive failure and obstetric complications. This study aims to summarize the clinical characteristics and prenatal outcome of pregnancy in women with congenital uterine malformations. Methods: This retrospective study evaluates the obstetric outcome of 24 in patients with uterine malformations with pregnancy in Sapthagiri Hospital from August 2010 to August 2013. A total of 60 randomly selected preg...

  1. Chiari Malformation

    Science.gov (United States)

    ... malformation? Individuals with CM may complain of neck pain, balance problems, muscle weakness, numbness or other abnormal feelings in the ... cases, medications may ease certain symptoms, such as pain. Surgery is ... have surgery see a reduction in their symptoms and/or prolonged periods of ...

  2. Cerebral arteriovenous malformation in Noonan's syndrome.

    OpenAIRE

    Schon, F.; Bowler, J.; Baraitser, M.

    1992-01-01

    Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intel...

  3. Aneurysmal Malformation of Galen Vein: A Case Report

    OpenAIRE

    Alizadeh, A.; Sh. Yousefzadeh

    2008-01-01

    Introduction: Vein of Galen aneurismal malformation (VGAM) is a rare congenital vascular malformation Characterized by shunting of arterial flow into en-larged cerebral vein, dorsal to the tectum that consti-tute approximately 1% of all intracranial vascular le-sions, however they represent 30% of vascular mal-formations in the pediatric groups."nCase Presentation: A Ten-month old male infant pre-sented to the pediatric physician by increase in the head circumference. There were no sympt...

  4. Otosclerosis associated with type B-1 inner ear malformation

    OpenAIRE

    A. De Stefano; Dispenza, F; Aggarwal, N; Russo, A.

    2010-01-01

    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossi...

  5. Association between congenital malformation and neonatal and maternal variables in neonatal units of a Northeast Brazilian city / Associação das malformações congênitas com variáveis neonatais e maternas em unidades neonatais numa cidade do Nordeste brasileiro / Associación de las malformaciones congénitas con variables neonatais y maternas en unidades neonatales de una ciudad del Nordeste brasileño

    Scientific Electronic Library Online (English)

    Fabíola Chaves, Fontoura; Maria Vera Lúcia Moreira Leitão, Cardoso.

    2014-12-01

    Full Text Available Malformações congênitas ocorrem devido a fatores genéticos, ambientais, mistos ou causas desconhecidas. Objetivou-se investigar a existência de relação entre tipo de malformação congênita e variáveis neonatais e maternas. Estudo prospectivo, quantitativo, realizado em três unidades neonatais pública [...] s em Fortaleza-CE, Brasil. Os dados foram colhidos dos prontuários de 159 neonatos malformados, analisados por meio do teste de Qui-quadrado (?2), nível de significância de 5% (p Abstract in spanish Malformaciones congénitas ocurrir debido a factores genéticos, ambientales, mistos o por causas desconocidas. Se objetivó investigar la relación entre tipo de malformación congénita, variables neonatales y maternas. Estudio prospectivo, cuantitativo, realizado en tres unidades neonatales públicas en [...] Fortaleza-CE, Brasil. Los datos fueron recolectados del sistema de registro de 159 recién nacidos malformados y analizados por medio del test Chi cuadrado (?2), nivel de significancia de 5% (p Abstract in english Congenital malformations occur due to genetic, environmental, and mixed factors or unknown causes. This study aimed to investigate the existence of a relationship between the type of congenital malformation and maternal and neonatal variables. This prospective, quantitative study was conducted in th [...] ree public neonatal units in Fortaleza, Ceará, Brazil. Data were collected from the medical records of 159 malformed neonates and analyzed using the Chi-square test (?2), significance level of 5% (p

  6. Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas / Correlation between prenatal diagnosis of congenital malformations and pathological studies

    Scientific Electronic Library Online (English)

    Victoria Marinella, Rivera Martínez; Celia, Llanusa Ruiz; Rita, Sánchez Lombana; Lourdes, Carrillo Bermúdez; Lidia, Rodríguez Peña; Alfredo, Nodarse Rodríguez; José María, Pérez Penco; Raimundo, Capote Arce; Dagnelia, Castillo; Juan Carlos, Ramiro; José, Oliva Rodríguez.

    2007-04-01

    Full Text Available Se realizó un estudio descriptivo retrospectivo de 358 necropsias de fetos, mortinatos y neonatos, analizadas en el Departamento de Anatomía Patológica del hospital ginecoobstétrico “Ramón González Coro”, de Ciudad de La Habana, entre los años 1996 y 2004. Fueron descartados 144 casos que no cumplía [...] n los criterios de inclusión. Las anomalías encontradas se clasificaron sobre la base del sistema anatómico mayor afectado. Se comparó la información obtenida del examen sonográfico y el anatomopatológico, con el objetivo de establecer la relación entre el diagnóstico prenatal por ultrasonido y el estudio necrópsico. La coincidencia diagnóstica entre ambos métodos de estudio fue del 82,41 %. El grupo de malformaciones encontrado con mayor frecuencia en las necropsias, fueron las cerebroespinales, con un 30,99 %, de las cuales el 13,61 % eran defectos del tubo neural. En este grupo, el 100 % de las anencefalias se diagnosticó sonográficamente y el 73 % de las espinas bífidas. Evaluando posteriormente a partir del examen ultrasonográfico, se encontraron 199 casos con diagnóstico de una malformación específica y el sistema mayormente afectado, fue el cerebroespinal (34,14 %). De estos diagnósticos positivos, 133 casos revelaron hallazgos necrópsicos idénticos (81,1 %), y fueron las anomalías cerebroespinales y las cardiovasculares las que mostraron mayor exactitud diagnóstica. En 31 casos se describieron hallazgos adicionales, para un 18,9 % y de ellos, 54,83 % tuvieron significado clínico. El diagnóstico prenatal se realizó antes de las 26 semanas de gestación en el 81,4 % y en el 18,6 %, después que la paciente sobrepasó las 26 semanas. Abstract in english This is a retrospective study of 358 necropsies of stilbirths and newborns, performed at the Pathological Department of the “Ramón González Coro” Hospital, in Havana, between 1996 and 2004. Anomalies found were classified according to the major anatomic system affected. The aim of the study was to c [...] ompare the ultrasound prenatal diagnosis and the pathological findings after the necropsy. In 82,41 % of the cases, there was a coincidence between the two methods. Brain and spinal anomalies were the most frequent (30,99 %). In this group, ultrasound examination identified all cases of anencephaly and 73% of cases with spina bifida. The correlation between ultrasound examination and necropsy was higher in cases of brain and cardiovascular malformations. Prenatal diagnosis was done before 26 weeks gestation in 81,4 % of cases.

  7. Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas Correlation between prenatal diagnosis of congenital malformations and pathological studies

    Directory of Open Access Journals (Sweden)

    Victoria Marinella Rivera Martínez

    2007-04-01

    Full Text Available Se realizó un estudio descriptivo retrospectivo de 358 necropsias de fetos, mortinatos y neonatos, analizadas en el Departamento de Anatomía Patológica del hospital ginecoobstétrico “Ramón González Coro”, de Ciudad de La Habana, entre los años 1996 y 2004. Fueron descartados 144 casos que no cumplían los criterios de inclusión. Las anomalías encontradas se clasificaron sobre la base del sistema anatómico mayor afectado. Se comparó la información obtenida del examen sonográfico y el anatomopatológico, con el objetivo de establecer la relación entre el diagnóstico prenatal por ultrasonido y el estudio necrópsico. La coincidencia diagnóstica entre ambos métodos de estudio fue del 82,41 %. El grupo de malformaciones encontrado con mayor frecuencia en las necropsias, fueron las cerebroespinales, con un 30,99 %, de las cuales el 13,61 % eran defectos del tubo neural. En este grupo, el 100 % de las anencefalias se diagnosticó sonográficamente y el 73 % de las espinas bífidas. Evaluando posteriormente a partir del examen ultrasonográfico, se encontraron 199 casos con diagnóstico de una malformación específica y el sistema mayormente afectado, fue el cerebroespinal (34,14 %. De estos diagnósticos positivos, 133 casos revelaron hallazgos necrópsicos idénticos (81,1 %, y fueron las anomalías cerebroespinales y las cardiovasculares las que mostraron mayor exactitud diagnóstica. En 31 casos se describieron hallazgos adicionales, para un 18,9 % y de ellos, 54,83 % tuvieron significado clínico. El diagnóstico prenatal se realizó antes de las 26 semanas de gestación en el 81,4 % y en el 18,6 %, después que la paciente sobrepasó las 26 semanas.This is a retrospective study of 358 necropsies of stilbirths and newborns, performed at the Pathological Department of the “Ramón González Coro” Hospital, in Havana, between 1996 and 2004. Anomalies found were classified according to the major anatomic system affected. The aim of the study was to compare the ultrasound prenatal diagnosis and the pathological findings after the necropsy. In 82,41 % of the cases, there was a coincidence between the two methods. Brain and spinal anomalies were the most frequent (30,99 %. In this group, ultrasound examination identified all cases of anencephaly and 73% of cases with spina bifida. The correlation between ultrasound examination and necropsy was higher in cases of brain and cardiovascular malformations. Prenatal diagnosis was done before 26 weeks gestation in 81,4 % of cases.

  8. Eye malformations in Cameroonian children: a clinical survey

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  9. [Malformations of the lower extremities].

    Science.gov (United States)

    Hefti, F

    2008-04-01

    Malformations with deficiencies of the lower extremities are rare. They are usually caused by toxic influences during pregnancy between the 4th and the 12th week of gestation. Some malformations have a genetic origin. The total incidence of congenital deficiencies of the lower extremities is approximately 18 in 100,000 newborns. The most common deficiencies are fibular hemimelias, followed by congenital femoral deficiencies and tibial hemimelias. Hemimelias are often associated with deficient toes or ray defects. Congenital pseudarthrosis of the tibia is less common, but this diagnosis is underestimated in epidemiological studies in neonates, because the fracture usually only occurs at walking age. Other deficiencies such as bladder exstrophy with pelvic defects, split feet and defects in association with hereditary skeletal dysplasias (Apert syndrome, constriction band syndrome) are extremely rare. Various treatment options are available, including shoe elevation, orthotic or prosthetic devices, realignment osteotomy, arthrodesis, rotationplasty, amputation and surgical leg lengthening. Complex deformities should be treated by a team of specialists such as orthopedic surgeons, orthotists, physiotherapists, psychologists and possibly other surgeons too. PMID:18379756

  10. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  11. [Central nervous system malformations: neurosurgery correlates].

    Science.gov (United States)

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

    2013-09-01

    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them. PMID:23897155

  12. Three-dimensional computed tomography in the assessment of congenital scoliosis

    Energy Technology Data Exchange (ETDEWEB)

    Bush, C.H. [Department of Radiology, University of Florida College of Medicine, Gainesville, FL (United States); Kalen, V. [Department of Orthopedics, University of Florida College of Medicine, Gainesville, FL 32610 (United States)

    1999-11-01

    Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

  13. Three-dimensional computed tomography in the assessment of congenital scoliosis

    International Nuclear Information System (INIS)

    Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

  14. Congenital diaphragmatic hernia

    OpenAIRE

    Tovar Juan A

    2009-01-01

    Abstract Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or o...

  15. Incidencia de labio leporino y paladar hendido en la Maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) período 1991-1999 / Incidence of orofacial cleft in the University of Chile Maternity Hospital and other hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC)

    Scientific Electronic Library Online (English)

    Julio, Nazer H; María Eugenia, Hubner G; Jorge, Catalán M; Lucía, Cifuentes O.

    2001-03-01

    Full Text Available [...] Abstract in english Background: ECLAMC is a registry, aimed to assess the incidence of congenital malformations, that started in 1967 and Chile incorporated to it in 1969. Aim: To report the incidence of cleft lip/palate, updated to 1999 in the University of Chile Maternity Hospital and other Chilean hospitals particip [...] ating in the ECLAMC. Patients and methods: A review of the ECLAMC database that registers all births or stillbirths of more than 500 g. Results: The incidence of orofacial cleft, at the University of Chile Maternity Hospital, in the period 1991-1999 was 17.8 per 10000 (12.6 for cleft lip and 5.2 for cleft palate). The incidence in the rest of participating hospitals was 12.04 and 4.6 respectively. Males had a higher incidence of cleft lip and 80% of children with cleft palate, had other malformations, most of them as part of a syndrome (13 and 18 trisomy, holoproscencephalia, Pierre Robin, Apert en EE syndromes, anencephaly etc). In three of 12 children with cleft lip but without cleft palate, there was a relative with the same malformation. Conclusions: It is proposed that both entities, cleft lip with or without cleft palate and cleft palate without cleft lip, are two etiopathogenically different conditions (Rev Méd Chile 2001; 129: 285-93).

  16. Incidencia de labio leporino y paladar hendido en la Maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC período 1991-1999 Incidence of orofacial cleft in the University of Chile Maternity Hospital and other hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2001-03-01

    Full Text Available Background: ECLAMC is a registry, aimed to assess the incidence of congenital malformations, that started in 1967 and Chile incorporated to it in 1969. Aim: To report the incidence of cleft lip/palate, updated to 1999 in the University of Chile Maternity Hospital and other Chilean hospitals participating in the ECLAMC. Patients and methods: A review of the ECLAMC database that registers all births or stillbirths of more than 500 g. Results: The incidence of orofacial cleft, at the University of Chile Maternity Hospital, in the period 1991-1999 was 17.8 per 10000 (12.6 for cleft lip and 5.2 for cleft palate. The incidence in the rest of participating hospitals was 12.04 and 4.6 respectively. Males had a higher incidence of cleft lip and 80% of children with cleft palate, had other malformations, most of them as part of a syndrome (13 and 18 trisomy, holoproscencephalia, Pierre Robin, Apert en EE syndromes, anencephaly etc. In three of 12 children with cleft lip but without cleft palate, there was a relative with the same malformation. Conclusions: It is proposed that both entities, cleft lip with or without cleft palate and cleft palate without cleft lip, are two etiopathogenically different conditions (Rev Méd Chile 2001; 129: 285-93.

  17. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

    US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

  18. Congenital cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. (orig./MG)

  19. Congenital malformations of uterus and vagina

    International Nuclear Information System (INIS)

    The radiographic findings according to the classification of Buttram and Gibbons are described for HSG, ultrasound and MRI. The advantages and limitations of each method are discussed, and finally an algorithm for imaging is recommended. (orig.)

  20. Hormonal pregnancy tests and congenital malformations.

    Science.gov (United States)

    Gal, I

    1976-10-23

    Some general practitioners are still using hormonal pregnancy tests despite the warning notice by the Committee on Safety of Medicines. In view of the possible fetal damage, this practice requires further action. 12 different preparations have been used. Only Primodos and Norlestrin are still available. These products are also used for the symptomatic treatment of secondary amenorrhea. The manufacturers' data sheets have been revised but the warning notice should be reinforced. A change in the name of the products is suggested. PMID:974708

  1. Congenital scoliosis - Quo vadis?

    Directory of Open Access Journals (Sweden)

    Debnath Ujjwal

    2010-01-01

    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient?s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the spinal surgeon in dealing with certain difficult congenital spinal deformities. The goal of growing rod treatment is to provide simultaneous deformity correction and allow for continued spinal growth. Once maximal spinal growth has been achieved, definitive fusion and instrumentation is performed.

  2. Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Peña Alberto

    2007-07-01

    Full Text Available Abstract Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

  3. Chiari I malformation: A missed diagnosis

    Directory of Open Access Journals (Sweden)

    Shehu B

    2006-12-01

    Full Text Available Chiari I malformation is a complex congenital malformation of the hindbrain, characterized by herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal. There may be mild caudal displacement and flattening or kinking of the medulla with an associated small posterior fossa. We present a case of a 30 year old man who presented with a 2 year history of worsening nystagmus and ataxia with associated occipital headache and diplopia. Examination showed a young man with horizontal and vertical nystagmus, he had truncal ataxia and Rhomberg?s sign was positive. Diagnosis was missed by several clinicians during the 2 year period. Repeated brain CT scans were normal. Brain MRI confirmed the diagnosis of Chiari I malformation and cervical syringomyelia. He had decompressive occipital craniectomy durotomy and duroplasty. The patient recovered fully from ataxia headache and diplopia but still has residual nystagmus.

  4. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    Directory of Open Access Journals (Sweden)

    Natascia Liberato

    2010-09-01

    Full Text Available Chiari type I malformation (CMI is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation.

  5. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  6. Report of a case with congenital hypothyroidism and agenesis of right auricula

    Directory of Open Access Journals (Sweden)

    Kurto?lu, S.

    2005-01-01

    Full Text Available A twenty-one–day-old-male infant presented with right ear malformation, jaundice and umbilical hernia. The patient was investigated for congenital hypothyroidism because of prolongation of jaundice and endocrinologic tests confirmed the diagnosis. It was emphasized that extra thyroidal malformations were seen more frequently in cases with congenital hypothyroidism.

  7. Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

    Science.gov (United States)

    Sousa, Sérgio B; Baujat, Geneviéve; Abadie, Véronique; Bonnet, Damien; Sidi, Daniel; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valérie

    2010-03-01

    We report on two unrelated cases born to nonconsanguineous parents with a similar clinical presentation: hypotonia since the neonatal period, severe failure to thrive, postnatal growth retardation, facial dysmorphism, congenital cardiac defects (septal defect and non progressive multiple valve dysplasia), shortened extremities, carpal/tarsal and extensive vertebral synostosis, delayed carpal bone age, deafness, and inner ear malformations. Presently, both patients present with normal psychomotor development. Additional abnormal findings include extra oral frenulum, nasal speech, and vesico-ureteral reflux. Molecular analysis in one patient excluded the Noggin gene and Filamin B (FLNB) was excluded in the other patient. Although some features are similar to spondylocarpotarsal synostosis syndrome, the exclusion of FLNB and this constellation of findings suggest a new entity, closely similar to an autosomal dominant condition reported by Forney et al. 1966 in a unique family. Identification of similarly affected patients should aid in the further elucidation of this syndrome. PMID:20186786

  8. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

    2004-12-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

  9. Ethanol sclerotherapy of peripheral venous malformations

    International Nuclear Information System (INIS)

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skilmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur

  10. Congenital Hypothyroidism

    Science.gov (United States)

    Congenital Hypothyroidism Share: Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. Brown, MD Stephen LaFranchi, MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn ...

  11. Congenital mitral valve lesions : Correlation between morphology and imaging

    OpenAIRE

    Remenyi, Bo; Gentles, Tom L

    2012-01-01

    Congenital malformations of the mitral valve are often complex and affect multiple segments of the valve apparatus. They may occur in isolation or in association with other congenital heart defects. The majority of mitral valve malformations are not simply classified, and descriptive terms with historical significance (parachute, mitral, or arcade) often lack the specificity that cardiac surgeons demand as part of preoperative echocardiographic morphological assessment. This paper examines th...

  12. [Obstructive azoospermia and malformations of seminal tract].

    Science.gov (United States)

    Terrone, C; Ceratti, G; Bonazzi, A; Rocca Rossetti, S; Bianchi, M

    1996-12-01

    About 10% of the cases of male infertility is represented by the obstruction of the seminal tract, which may be congenital or secondary to inflammatory events or surgery. The most frequent obstructive malformation of the seminal tract is the bilateral agenesia of the vas deferens. Such malformation is typical of the cystic fibrosis (CF), an autosomal recessive disorder determining chronic respiratory infections with bronchiectasia, and pancreatic failure. Recently the defective gene responsible for CF has been identified on the long arm of the chromosome 7. Congenital bilateral absence of the vas deferens (CBAVD) may be present in otherwise healthy males without clinical evidence of CF. Genetics studies demonstrated that most CBAVD display at least one detectable CF mutation, therefore this disease can be considered as an incomplete clinical form of CF. With the realization that a man with CBAVD may have CF, albeit a genital form, considerable care is required not only to document his specific mutations, but also to test his partner for CF mutations to evaluate the risk that their child would have CF. The association of chronic suppurating respiratory disease with obstructive azoospermia characterizes also the Young's syndrome. In this disease the obstruction could possibly be the result of defective epididymal sperm transport, related to an abnormality in the mucus. Despite some clinical common aspects, CF and Young's syndrome are two distinct entity. In fact, no CF mutations have been demonstrated in Young's syndrome. Congenital obstructive abnormalities of the vas deferens and epididymis are often associate to cryptorchidism (36-68% of the cases) and to patent processus vaginalis. The degree of testicular retention and processus vaginalis closure correlates well with the incidence of associated epididymal defects. Rare causes of congenital obstructive azoospermia are represent by the cyst of Müllerian or Wolffian origin. An obstruction to the progression of the sperm along the seminal tract can also be present in complex malformations, such as pseudohermaphroditism in which the infertility has a multifactorial etiology. PMID:9026241

  13. Morning glory disc anomaly with Chiari type I malformation.

    Science.gov (United States)

    Arlow, Tim; Arepalli, Sruthi; Flanders, Adam E; Shields, Carol L

    2014-01-01

    Morning glory disc anomaly is a rare optic nerve dysplasia associated with various neovascular abnormalities. Due to these associations, children with morning glory disc anomaly have brain imaging and angiography to detect other congenital defects. The authors report the case of an infant with morning glory disc anomaly and coexisting Chiari type I malformation. PMID:24802674

  14. 16 multi-slice CT three-dimensional and multiplanar reconstruction for evaluation of pediatric congenital scoliosis

    International Nuclear Information System (INIS)

    Objective: Our study is to use of 16 MSCT three-dimensional images and multiplanar reconstruction images in the preoperative investigation of patients with congenital scoliosis, to study its technical advantage and work out surgical plan. Methods: Twenty-seven pediatric patients with congenital scoliosis processing between April to October 2004 were reviewed, including 13 boys and 14 girls. X-ray plain film and sixteen multi-slice CT examination on curved/standard multiplanar reconstruction and three- dimensional computed tomographic imaging may offer, many potential advantages for defining congenital spine anomalies liable to cause progression of scoliosis, including visualization of the deformity in any plane, from any angle, with the overlying structures subtracted. Results: Ten patients had segmentation defects, 6 patients underwent formation defects, 11 patients had complex, unclassifiable anomalies. The patients of rib deformity were found in 15 patients, the most prominent part of the rib cage deformity was at the same level as the most rotated vertebra in 7 patients; 8 patients had vertebral anomalies accompanied with diastematomyelie, including 6 patients with uncompleted or completed bony spur. In 19 of 27 cases, the muhiplanar reconstruction and three-dimensional images allowed identification of unrecognized malformations and completely evaluated the degree of scoliosis, during conventional X-ray images and axial CT images, including volume 3D imaging evalu images, including volume 3D imaging evaluated approximately classification and modality of complex anomalies in 11 cases, which were unclassifiable malformation in 7 cases and unsegmented bar with contralateral hemivertebrae; 4 children had segmentation defects revealed unilateral unsegmented bar (3 cases) and bilateral block vertebra (1 case) in volume 3D reconstruction images; 2 children were found occultation hemivertebrae which were not been discovered during conventional X-ray images and axial CT images; and 2 children were revaluated the amount of hemivertebrae. The curved multiplanar reconstruction images in all eases were best for defining the spinal canal and spinal medulla, and showed clearly the modality and developed way of bony spur, even the relationship with spinal cord in 6 cases. The standard muhiplanar reformatted images in 4 cases were helpful in showing occipital-C1-C2 anatomy and malformation, especially the junction of skull and cervix malformation. Conclusion: Our data suggest that 16 MSCT three- dimensional images and muhiplanar reconstruction images appears to be most useful tool in the patients with congenital scoliosis in which the anomalies are complex, multiple, or obscured by deformity and rib malformation. The reformatted images of MSCT is markedly superior to conventional X-ray images and axial CT images when used to evaluate the progressive spinal curvatures and work out surgical plan. (authors)

  15. Dermatoglyphs in congenital heart disease.

    Science.gov (United States)

    David, T J

    1981-10-01

    The palmar dermatoglyphs of 800 patients with anatomically proven congenital heart disease were compared with prints from 1000 controls. A review of the previous studies revealed major technical deficiencies, and the present study failed to confirm most of the previously reported positive findings. An overall increase in the incidence of hypothenar patterns was found, probably explaining the previous suggestion of increased atd angle in congenital heart disease. A large number of statistical comparisons inevitably produced a few 'significant' results, most of which were inconsistent in various ways. Two percent of cases were found to have rare epidermal ridge malformation, ridge dissociation. The nature of the relationship between this and congenital heart disease is obscure. Claims that there are diagnostically useful dermatoglyphic changes in congenital heart disease can be disregarded. PMID:7328614

  16. Transcription Factor Pathways and Congenital Heart Disease

    OpenAIRE

    McCulley, David J.; Black, Brian L

    2012-01-01

    Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list o...

  17. Interventional treatment of pulmonary arteriovenous malformations

    Directory of Open Access Journals (Sweden)

    Poul Erik Andersen

    2010-09-01

    Full Text Available Pulmonary arteriovenous malformations (PAVM are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT (Mb. Osler-Weber-Rendu syndrome. Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

  18. Interventional treatment of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette DrØhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenationof the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

  19. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Amrish Tiwari

    2014-06-01

    Full Text Available Anorectal malformations are the congenital condition, seen in approximately 1 in 5000 live births. It affects male and female in the ratio of 1.3:1. Anorectal malformations include a wide range of malformations, that not only involves the anus and rectum, but it also involves urinary and genital tract. Aims and objectives of the study, was to understand the structures involved in anorectal malformations by histological study of surgically excised segments of involved part of neonatal intestine and to understand the degree and cause of possible structural impairment in different segments of involved parts of neonatal bowel that may help in the surgical management of anorectal malformations. Present study was conducted on surgically excised segments of fifteen cases of anorectal malformations, that have been collected from Department of Paediatrics Surgery, IMS, BHU. After that processing of the samples have been done and blocks have been prepared. Then after sectioning and staining with Hematoxyline and Eosin, findings have been noted under the microscope. Histopathological examination revealed the abnormalities of varying degrees. To conclude this study supports that the malformed segments should be excised, regarding controversial issue of preserving or excising the distal segment of anorectum for better functional outcome.

  20. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

    Alok Sachan; Suresh, V.; Rajasekhar, D.; Vanaja, V.; Harinarayan, C.V.; RajaGopal, G.; P. Amaresh Reddy

    2010-01-01

    Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59...

  1. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    OpenAIRE

    Natascia Liberato; Francesco Costantino; Enrico Properzi; Francesca Del Balzo; Luigi Tarani; Alberto Spalice

    2010-01-01

    Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequ...

  2. Congenital Pseudoarthrosis of the clavicle - Case report

    International Nuclear Information System (INIS)

    Congenital pseudoarthrosis of the clavicle (CPC) is a tare malformation of the scapular waist of unknown etiology. The lesion is usually unilateral and right sided. It is seldom symptomatic and X rays confirm the diagnosis. Treatment is usually non surgical, unless functional or cosmetic compromise of the shoulder is present

  3. Embolization in high-flow arteriovenous malformations of the face.

    Science.gov (United States)

    Komiyama, M; Khosla, V K; Yamamoto, Y; Tazaki, H; Toyota, N

    1992-06-01

    Five patients with arteriovenous malformations of the face (4 males and 1 woman; age range, 11-38 years) were treated by selective embolization through the feeding arteries with polyvinyl alcohol particles. Immediate gross angiographical obliteration was obtained in 4 patients, with pronounced reduction of the arteriovenous shunt in the fifth. Clinical symptoms including bleeding, swelling, pulsations, bruit, and disfigurement improved in all the patients followed up for a period of 6 to 21 months. Polyvinyl alcohol particle embolization, without surgical resection, though palliative could be useful in select patients. The classification and diagnosis of congenital vascular malformations is briefly reviewed and treatment discussed. PMID:1622040

  4. Imaging features of ductal plate malformations in adults

    International Nuclear Information System (INIS)

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  5. An unusual constellation of congenital malformations in a single patient including partial anomalous pulmonary venous return, persistent left superior vena cava, aberrant pulmonary fissure, anomalous aortic arch, tracheal diverticulum and annular pancreas.

    Science.gov (United States)

    Lapa, T; Vedelago, J; Kim, H; Patrick, E

    2014-01-01

    We report a case of a male patient with a constellation of rare congenital anomalies consisting of: partial anomalous pulmonary venous return (PAPVR), persistent left superior vena cava, 'bovine arch' aortic branching, tracheal diverticulum, aberrant lung fissure anatomy and an annular pancreas. He had presented with a history of worsening dyspnoea. To the best of our knowledge, this is the first reported case of a single patient with such a vast constellation of anomalies. The radiological evaluations, epidemiology, embryology and clinical features of the anomalies are discussed. It is important for radiologists to be aware of each of these anomalies as distinct entities; detection of a single anomaly should alert to the possibility that further anatomic aberrancies may be present. PMID:25362184

  6. Arteriovenous malformation of the uterus--a cause of massive operative bleeding.

    OpenAIRE

    Kim, I.; Ha, S. Y.; Yoon, S. A.; Lee, K. W.

    1991-01-01

    Arteriovenous malformations of the uterus are extremely rare and they occur either in congenital or acquired forms. The most common clinical presentation is abnormal uterine bleeding, which may be aggravated by therapeutic curettage. Because of their rare incidence and clinical importance in management of patients, we report a case of arteriovenous malformation causing serious bleeding during a hysterectomy for uterine leiomyoma. The patient was a 47-year-old multiparous woman who had a histo...

  7. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

    OpenAIRE

    Green, A J; Sandford, R N; Davison, B C

    1996-01-01

    We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the s...

  8. Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)

    OpenAIRE

    García-Ramos Rocío; Fernández de Gamboa Fernández de Araoz Marta; Escribano Silva Mercedes; Chesa i Octavio Ester; de la Cruz Labrado Javier; Barrón Fernández Javier; Amado Vázquez María Eugenia; Izquierdo Martínez Maravillas; Isla Guerrero Alberto; Avellaneda Fernández Alfredo; García Ribes Miguel; Gómez Carmen; Insausti Valdivia Joaquín; Navarro Valbuena Ramón; Ramón José R

    2009-01-01

    Abstract Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptom...

  9. MRI characteristics and classification of peripheral vascular malformations and tumors

    International Nuclear Information System (INIS)

    Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance imaging (MRI) is a noninvasive effective tool for imaging and classification of vascular malformations based on the presence of lobulated masses, signal voids, and hemodynamic flow characteristics. MRI also provides details about anatomic extent of the lesion, proximity to vital structures, and involvement of multiple tissue planes. The prototype of vascular tumors is infantile hemangioma with its typical involution after a proliferative phase during infancy. Hemangioma appears as a distinct intensely enhancing soft tissue mass with enlarged feeding arteries and draining veins. Less common vascular tumors include congenital hemangioma, kaposiform hemangioendothilioma, angiolipoma, angiosarcoma, and hemangiopericytoma. (orig.)

  10. A patient with oculus-auricule-vertebral spectrum and occipital meningocele

    Directory of Open Access Journals (Sweden)

    Harry Mauricio Pachajoa Londoño

    2006-08-01

    Full Text Available We report a newborn with multiple features of the oculus-auricule-vertebral spectrum (OAVS. The different malformations arepointed out that conform a wide spectrum of anomalies at themoment, according to the revised literature, as well as the clinicalcharacteristics, treatment and their evolution. The malformations ofthe central nervous system type meningocele and malformation ofDandy Walker is a novel discovery that can be explained by this typeof morphogenetic alterations.

  11. Polymicrogyria: a common and heterogeneous malformation of cortical development.

    Science.gov (United States)

    Stutterd, Chloe A; Leventer, Richard J

    2014-06-01

    Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. PMID:24888723

  12. [Epidemiological aspects of congenital stridor].

    Science.gov (United States)

    Soldatski?, Iu L; Za?tseva, O V; Striga, E V; Onufrieva, E K; Tilikina, L G

    2012-01-01

    The objective of the present work was to study epidemiology of congenital stridor as a leading symptom of laryngeal malformation. The continuous sampling method was employed to perform the retrospective analysis of the growth charts of the patients attending three children's polyclinics in Moscow (9.625 patients born between 2005 and 2009). In addition, the medical histories of 4.623 newborn and breast-fed babies under the age of 1 year admitted to the Department of Newborn and Neonatal Pathology, Saint Vladimir City Children's Clinical Hospital, and 347 patients of the Department of Reconstructive Laryngeal Surgery were analysed. The children with the history of tracheal intubation in the preceding period were excluded from the study. The frequency of congenital stridor annually diagnosed in the aforementioned polyclinics varied from 0.17 to 5.8% compared with 1.5% in the general population. It was 2.21 to 3.14% (mean 2.47%) among the children treated at the Clinical Hospital. In the children under the age of 1 year, congenital malformations accounted for 90.8% of all laryngeal diseases. The principal cause of stridor was shown to be laryngomalacia. This pathology was diagnosed in 91.9% of the cases included in this study. In 11.2% of the patients, this condition occurred in combination with other congenital pathologies. It is concluded that the diagnosis of congenital stridor is an indication for laryngeal endoscopy regardless of the children's age starting from the first day of life. Meeting this recommendation allows the cause of stridor to be established and the treatment strategy to be developed on an individual basis. PMID:22951680

  13. Avaliação dos resultados clínicos e radiográficos de pacientes submetidos à ressecção de hemivértebra nas deformidades congênitas da coluna vertebral / Evaluation of clinical and radiographic results in patients undergoing resection of hemivertebra in congenital deformities of the spine / Evaluación de los resultados clínicos y radiográficos de los pacientes sometidos a resección de hemivértebra en deformidades congénitas de la columna vertebral

    Scientific Electronic Library Online (English)

    Luis Antonio Medeiros, Moliterno; Alderico Girão de, Barros; América Maria, Limoeiro; André Luiz Loyelo, Barcellos; Antonio Eulálio Pedrosa de, Araújo Junior; Renato Henriques, Tavares; Luiz Claudio, Schettino; Luis Eduardo Carelli Teixeira da, Silva.

    Full Text Available OBJETIVO: A proposta do estudo foi determinar nossos resultados clínicos e radiográficos de pacientes com deformidades congênitas da coluna vertebral submetidos à ressecção de hemivértebra por via posterior isolada e correção com instrumentação posterior e fusão. MÉTODOS: Registros de 31 pacientes s [...] ubmetidos à ressecção de hemivértebra no período de 2003 a 2010 foram revistos para identificar idade e sexo, grau de correção, níveis da artrodese, quadro neurológico, perda sanguínea, tempo cirúrgico e complicações. RESULTADOS: Foram identificados 22 pacientes com escoliose e Cobb pré-operatório médio de 46.66°(20-88°) e 9 pacientes com cifose e média angular de 83.54°(13-137°). Vinte e quatro pacientes eram do sexo feminino e 7 do sexo masculino. Foram 13 pacientes adolescentes e 18 crianças (1-19 anos). A ressecção de hemivértebra foi realizada em 1 nível (64%), 2 níveis (32%) e 3 níveis (4%). As taxas de correção da escoliose e cifose foram 63.8 e 40.1% e as médias angulares pós-operatórias foram 16.88° e 50°, respectivamente. Complicações ocorreram em 7 pacientes: pseudartrose, cifose juncional, neurite óptica, déficit neurológico, infecção de ferida operatória e óbito. A média de perda sanguínea foi de 1132ml (300ml-3500ml) e o tempo cirúrgico foi de 7.15 horas (4-13 horas). CONCLUSÕES: A ressecção de hemivértebra é uma valiosa técnica no tratamento das deformidades congênitas angulares e uma alternativa eficiente que oferece correção satisfatória nos planos coronal e sagital sem a necessidade de uma abordagem anterior. Abstract in spanish OBJETIVO: El objetivo de nuestro estudio fue determinar los resultados clínicos y radiográficos de los pacientes con deformidades congénitas de la columna vertebral que se sometieron a la resección de hemivértebra por el acceso aislado posterior con instrumentación posterior y fusión. MÉTODOS: Regis [...] tros de 31 pacientes sometidos a resección de la hemivértebra el período 2003 a 2010 fueron revisados para identificar edad y sexo, grado de corrección, niveles de la fusión, estado neurológico, pérdida de sangre, tiempo quirúrgico y complicaciones. RESULTADOS: Se identificaron 22 pacientes con escoliosis y Cobb promedio preoperatorio de 46,66° (20°-88°) y 9 pacientes con un ángulo medio de cifosis y 83,54° (13°-137°). Veinticuatro pacientes eran hombres y siete mujeres. Hubo 13 adolescentes y 18 niños (1-19 años). La resección de hemivértebra se realizó en un nivel (64%), dos niveles (32%) y tres niveles (4%). Los porcentajes de corrección de la escoliosis y la cifosis fueron 63,8% y el 40,1% y el ángulo de post-operatorio promedio fue de 16.88° y 50°, respectivamente. Se presentaron complicaciones en 7 pacientes, pseudoartrosis, cifosis de la unión, neuritis óptica, déficit neurológico, infección de la herida y muerte. La pérdida de sangre promedio fue de 1132 ml (300 ml-3500 ml) y el tiempo quirúrgico medio fue de 7,15 horas (4-13 horas). CONCLUSIONES: La resección de hemivértebra es una técnica valiosa en el tratamiento de deformidades angulares congénitas y una alternativa eficaz que proporciona corrección satisfactoria en el plano coronal y sagital sin la necesidad de una vía anterior. Abstract in english OBJECTIVE: The purpose of this study was to determine our clinical and radiographic results of patients with congenital deformities of the spine underwent to single-stage posterior hemivertebra resection and correction with segmental posterior instrumentation and fusion. METHODS: The records of 31 c [...] onsecutive patients who had undergone to hemivertebra resection between 2003 and 2010 were reviewed to identify age and sex, correction rates, fusion levels, neurological status, blood loss, time of surgery and complications. RESULTS: We identified 22 patients with scoliosis and pre-operative Cobb averaged 46.66° (range 20-88°) and 9 patients with kyphosis and averaged 83.54° (range 13-137°). Twenty four patients were female and 7 w

  14. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  15. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    International Nuclear Information System (INIS)

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We report a unique case of the development of multiple de novo vascular malformations (transverse sinus dural fistula and posterior fossa cavernomas) following acoustic neuroma surgery. (orig.)

  16. High anorectal malformation in a five-month-old boy: a case report

    Directory of Open Access Journals (Sweden)

    Pandey Anand

    2010-08-01

    Full Text Available Abstract Introduction Anorectal malformation, one of the most common congenital defects, may present with a wide spectrum of defects. Almost all male patients present within first few days of life. Case presentation A five-month-old baby boy of Indian origin and nationality presented with anal atresia and associated rectourethral prostatic fistula. The anatomy of the malformation and our patient's good condition permitted a primary definitive repair of the anomaly. A brief review of the relevant literature is included. Conclusion Delayed presentation of a patient with high anorectal malformation is rare. The appropriate treatment can be rewarding.

  17. Congenital epulis.

    Directory of Open Access Journals (Sweden)

    Subramaniam R

    1993-01-01

    Full Text Available A tumor was found to be arising from the right maxillary alveolar margin of a newborn baby. No other congenital abnormality was detected. Following excision and histopathological examination, diagnosis of benign congenital granular cell epulis was made. The post-operative course was uneventful.

  18. VATER association: report of a case with three unreported malformations.

    OpenAIRE

    Dusmet, M.; Fe?te, F.; Crusi, A.; Cox, J. N.

    1988-01-01

    The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the bladder and penis and an askeletal rudimentary tail. The latter have not previously been described.

  19. Anaesthetic Management of Tracheo-Esophageal Malformation in a Neonate with Atypical Scimitar Syndrome

    OpenAIRE

    Jyotirmoy Das; Abhishek Bansal; Ranvir Singh; Sangeeta Khanna; Yatin Mehta

    2012-01-01

    Congenital Tracheoesophageal fistula is an abnormal communication between the trachea and the esophagus with or without esophageal atresia. We report a patient who was a preterm, low birth weight neonate with multiple congenital malformations like hypoplasia of the right lung and right pulmonary artery, dextroposition of the heart, patent ductus arteriosus and atrial septal defect. Interestingly, despite a normally draining right pulmonary vein, his chest X-ray showed "Scimitar sign".

  20. The role of MRI in suspected inner ear malformations

    International Nuclear Information System (INIS)

    Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.)

  1. Congenital aplasia of the optic chiasm and esophageal atresia: a case report

    Directory of Open Access Journals (Sweden)

    Madonia Maurizio

    2011-08-01

    Full Text Available Abstract Introduction The complete absence of the chiasm (chiasmal aplasia is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic cases, it is frequently associated with cardiac, limb, renal or vertebral malformations and anal atresia. More rarely, esophageal atresia can be part of anophthalmia-esophageal-genital syndrome, which comprises anophthalmia or microphthalmia, genital abnormalities, vertebral defects and cerebral malformations. Here, a previously unreported case of chiasmal aplasia presenting without microphthalmos and associated with esophageal atresia is described. Case presentation Aplasia of the optic chiasm was identified in a Caucasian Italian 8-month-old boy with esophageal atresia. An ultrasound examination carried out at 21 weeks' gestation revealed polyhydramnios. Intrauterine growth retardation, esophageal atresia and a small atrial-septal defect were subsequently detected at 28 weeks' gestation. Repair of the esophageal atresia was carried out shortly after birth. A jejunostomy was carried out at four months to facilitate enteral feeding. The child was subsequently noted to be visually inattentive and to be neurodevelopmentally delayed. Magnetic resonance imaging revealed chiasmal aplasia. No other midline brain defects were found. His karyotype was normal. Conclusion If achiasmia is a spectrum, our patient seems to depict the most severe form, since he appears to have an extremely severe visual impairment. This is in contrast to most of the cases described in the literature, where patients maintain good--or at least useful-- visual function. To the best of our knowledge, the association of optic nerve hypoplasia, complete chiasmal aplasia, esophageal atresia and atrial-septal defect, choanal atresia, hypertelorism and psychomotor retardation has never been described before.

  2. Isolated congenital tracheal stenosis in a preterm newborn

    OpenAIRE

    Krause, Ulrich; Ro?del, Ralph; Paul, Thomas

    2011-01-01

    Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trache...

  3. Giant congenital melanocytic nevus scalp: report of a rare case

    Directory of Open Access Journals (Sweden)

    A. Bhagyalakshmi

    2013-06-01

    Full Text Available Giant congenital melanocytic nevus (garment nevus is a kind of congenital malformation of neural crest cells with size greater than 20 cm. Malignant melanoma may develop in 2-31% of these lesions. The objective of this paper is to present a unique case of giant nevus which is rare. [Int J Res Med Sci 2013; 1(3.000: 317-319

  4. Aborting a malformed fetus: a debatable issue in saudi arabia.

    Science.gov (United States)

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  5. Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

    Science.gov (United States)

    Brodsky, Michael C; Turan, Kadriye Erkan; Khanna, Cheryl L; Patton, Alice; Kirmani, Salman

    2014-08-01

    We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. PMID:24998021

  6. Pancreatic Arteriovenous Malformation

    OpenAIRE

    Yamabuki, Takumi; Ohara, Masanori; Kimura, Noriko; Okamura, Kunishige; Kuroda, Aki; Takahashi, Ryo; Komuro, Kazuteru; Iwashiro, Nozomu

    2014-01-01

    An unusual case of pancreatic arteriovenous malformation (P-AVM) combined with esophageal cancer is reported. A 59-year-old man was admitted with upper abdominal pain. Contrast-enhanced computed tomography showed numerous strongly enhanced abnormal vessels and a hypovascular lesion in the area of the pancreatic tail. Angiographic study of the celiac artery confirmed racemose vascular networks in the tail of the pancreas. Endoscopic retrograde pancreatography revealed narrowing and displacemen...

  7. Vertebral chondroblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Ilaslan, Hakan; Sundaram, Murali [Department of Radiology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905 (United States); Unni, Krishnan K. [Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905 (United States)

    2003-02-01

    To determine the age distribution, gender, incidence, and imaging findings of vertebral chondroblastoma, and to compare our series with findings from case reports in the world literature.Design and patients Case records and imaging findings of nine histologically documented vertebral chondroblastomas were retrospectively reviewed for patient age, gender, vertebral column location and level, morphology, matrix, edema, soft tissue mass, spinal canal invasion, and metastases. Our findings were compared with a total of nine patients identified from previous publications in the world literature. The histologic findings in our cases was re-reviewed for diagnosis and specifically for features of calcification and secondary aneurysmal bone cyst (ABC). Clinical follow-up was requested from referring institutions. Nine of 856 chondroblastomas arose in vertebrae (incidence 1.4%; thoracic 5, lumbar 1, cervical 2, sacral 1). There were six males and three females ranging in age from 5 to 41 years (mean 28 years). Satisfactory imaging from seven patients revealed the tumor to arise from the posterior elements in four and the body in three. All tumors were expansive, six of seven were aggressive, and the spinal canal was significantly narrowed by bone or soft tissue mass in six. In one patient canal invasion was minimal. Calcification was pronounced in two and subtle in four. The sole nonaggressive-appearing tumor was heavily mineralized. Bony edema and secondary ABC were not seen on MR imaging. None of the cases had microscopic features of significant secondary ABC. Calcification, and specifically ''chicken wire'' calcification, was identified in two patients. Pulmonary metastases occurred in none. Vertebral chondroblastoma is a rare neoplasm that presents later in life than its appendicular counterpart. On imaging it is aggressive in appearance with bone destruction, soft tissue mass, and spinal canal invasion. The lesions contain variable amounts of mineral. Secondary aneurysmal cyst bone formation was not a feature in our study group. (orig.)

  8. Vertebral chondroblastoma

    International Nuclear Information System (INIS)

    To determine the age distribution, gender, incidence, and imaging findings of vertebral chondroblastoma, and to compare our series with findings from case reports in the world literature.Design and patients Case records and imaging findings of nine histologically documented vertebral chondroblastomas were retrospectively reviewed for patient age, gender, vertebral column location and level, morphology, matrix, edema, soft tissue mass, spinal canal invasion, and metastases. Our findings were compared with a total of nine patients identified from previous publications in the world literature. The histologic findings in our cases was re-reviewed for diagnosis and specifically for features of calcification and secondary aneurysmal bone cyst (ABC). Clinical follow-up was requested from referring institutions. Nine of 856 chondroblastomas arose in vertebrae (incidence 1.4%; thoracic 5, lumbar 1, cervical 2, sacral 1). There were six males and three females ranging in age from 5 to 41 years (mean 28 years). Satisfactory imaging from seven patients revealed the tumor to arise from the posterior elements in four and the body in three. All tumors were expansive, six of seven were aggressive, and the spinal canal was significantly narrowed by bone or soft tissue mass in six. In one patient canal invasion was minimal. Calcification was pronounced in two and subtle in four. The sole nonaggressive-appearing tumor was heavily mineralized. Bony edema and secondary ABC were not seen ony edema and secondary ABC were not seen on MR imaging. None of the cases had microscopic features of significant secondary ABC. Calcification, and specifically ''chicken wire'' calcification, was identified in two patients. Pulmonary metastases occurred in none. Vertebral chondroblastoma is a rare neoplasm that presents later in life than its appendicular counterpart. On imaging it is aggressive in appearance with bone destruction, soft tissue mass, and spinal canal invasion. The lesions contain variable amounts of mineral. Secondary aneurysmal cyst bone formation was not a feature in our study group. (orig.)

  9. Vertebrate Taphonomy

    Science.gov (United States)

    David Goodwin

    In this lab exercise, students investigate taphonomic processes operating on a large vertebrate carcass (whitetail deer: Odocoileus virginianus) in a temperate, humid, terrestrial environment (i.e., central Ohio). Prior to the lab, students read the 1991 review article on terrestrial vertebrate accumulations by A. K. Behrensmeyer. Once in the field, they familiarize themselves with the locality and note the state of the carcass and the position of any disarticulated portions of the beast. Using the stake flags they mark the location of all the elements of the carcass. Next, using the Brunton compasses and the measuring tape, create a map of the site. They then reassemble all the elements of the carcass on the tarp and identify all of the skeletal elements. Finally, the students compare the disarticulated skeleton with a control carcass placed in a wire mesh cage designed to exclude any macro-scavengers. In the lab, student synthesize their results and respond to a series of questions related to vertebrate taphonomy and the quality of the fossil record.

  10. Laser treatment of oral vascular malformations

    Science.gov (United States)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  11. Avaliação dos resultados clínicos e radiográficos de pacientes submetidos à ressecção de hemivértebra nas deformidades congênitas da coluna vertebral Evaluación de los resultados clínicos y radiográficos de los pacientes sometidos a resección de hemivértebra en deformidades congénitas de la columna vertebral Evaluation of clinical and radiographic results in patients undergoing resection of hemivertebra in congenital deformities of the spine

    Directory of Open Access Journals (Sweden)

    Luis Antonio Medeiros Moliterno

    2013-01-01

    Full Text Available OBJETIVO: A proposta do estudo foi determinar nossos resultados clínicos e radiográficos de pacientes com deformidades congênitas da coluna vertebral submetidos à ressecção de hemivértebra por via posterior isolada e correção com instrumentação posterior e fusão. MÉTODOS: Registros de 31 pacientes submetidos à ressecção de hemivértebra no período de 2003 a 2010 foram revistos para identificar idade e sexo, grau de correção, níveis da artrodese, quadro neurológico, perda sanguínea, tempo cirúrgico e complicações. RESULTADOS: Foram identificados 22 pacientes com escoliose e Cobb pré-operatório médio de 46.66°(20-88° e 9 pacientes com cifose e média angular de 83.54°(13-137°. Vinte e quatro pacientes eram do sexo feminino e 7 do sexo masculino. Foram 13 pacientes adolescentes e 18 crianças (1-19 anos. A ressecção de hemivértebra foi realizada em 1 nível (64%, 2 níveis (32% e 3 níveis (4%. As taxas de correção da escoliose e cifose foram 63.8 e 40.1% e as médias angulares pós-operatórias foram 16.88° e 50°, respectivamente. Complicações ocorreram em 7 pacientes: pseudartrose, cifose juncional, neurite óptica, déficit neurológico, infecção de ferida operatória e óbito. A média de perda sanguínea foi de 1132ml (300ml-3500ml e o tempo cirúrgico foi de 7.15 horas (4-13 horas. CONCLUSÕES: A ressecção de hemivértebra é uma valiosa técnica no tratamento das deformidades congênitas angulares e uma alternativa eficiente que oferece correção satisfatória nos planos coronal e sagital sem a necessidade de uma abordagem anterior.OBJETIVO: El objetivo de nuestro estudio fue determinar los resultados clínicos y radiográficos de los pacientes con deformidades congénitas de la columna vertebral que se sometieron a la resección de hemivértebra por el acceso aislado posterior con instrumentación posterior y fusión. MÉTODOS: Registros de 31 pacientes sometidos a resección de la hemivértebra el período 2003 a 2010 fueron revisados para identificar edad y sexo, grado de corrección, niveles de la fusión, estado neurológico, pérdida de sangre, tiempo quirúrgico y complicaciones. RESULTADOS: Se identificaron 22 pacientes con escoliosis y Cobb promedio preoperatorio de 46,66° (20°-88° y 9 pacientes con un ángulo medio de cifosis y 83,54° (13°-137°. Veinticuatro pacientes eran hombres y siete mujeres. Hubo 13 adolescentes y 18 niños (1-19 años. La resección de hemivértebra se realizó en un nivel (64%, dos niveles (32% y tres niveles (4%. Los porcentajes de corrección de la escoliosis y la cifosis fueron 63,8% y el 40,1% y el ángulo de post-operatorio promedio fue de 16.88° y 50°, respectivamente. Se presentaron complicaciones en 7 pacientes, pseudoartrosis, cifosis de la unión, neuritis óptica, déficit neurológico, infección de la herida y muerte. La pérdida de sangre promedio fue de 1132 ml (300 ml-3500 ml y el tiempo quirúrgico medio fue de 7,15 horas (4-13 horas. CONCLUSIONES: La resección de hemivértebra es una técnica valiosa en el tratamiento de deformidades angulares congénitas y una alternativa eficaz que proporciona corrección satisfactoria en el plano coronal y sagital sin la necesidad de una vía anterior.OBJECTIVE: The purpose of this study was to determine our clinical and radiographic results of patients with congenital deformities of the spine underwent to single-stage posterior hemivertebra resection and correction with segmental posterior instrumentation and fusion. METHODS: The records of 31 consecutive patients who had undergone to hemivertebra resection between 2003 and 2010 were reviewed to identify age and sex, correction rates, fusion levels, neurological status, blood loss, time of surgery and complications. RESULTS: We identified 22 patients with scoliosis and pre-operative Cobb averaged 46.66° (range 20-88° and 9 patients with kyphosis and averaged 83.54° (range 13-137°. Twenty four patients were female and 7 were male. Thirteen patients were teenagers and 18 were children (range 1-19 years

  12. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival. (orig.)

  13. Trisomy 13 in monozygotic twins discordant for major congenital anomalies.

    OpenAIRE

    Naor, N; Amir, Y; Cohen, T; Davidson, S

    1987-01-01

    The occurrence of trisomy 13 in twins is very rare. We report a pair of genotypically identical twins with trisomy 13 discordant for major anomalies. This case contributes to the already published data on the contribution of non-genetic factors to the aetiology of congenital malformations in monozygotic twins.

  14. Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

    OpenAIRE

    Azuma, Noriyuki; Yamaguchi, Yuki; Handa, Hiroshi; Tadokoro, Keiko; Asaka, Atsuko; Kawase, Eriko; Yamada, Masao

    2003-01-01

    The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia. However, it has not been identified in patients with optic-nerve malformations. Here, we identified novel mutations in eight pedigrees with optic-nerve malformations, including c...

  15. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    International Nuclear Information System (INIS)

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  16. Congenital leukemia.

    Science.gov (United States)

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2014-09-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85-88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirmed on bone marrow by flowcytometry. Karyotyping revealed Trisomy 21. PMID:25332567

  17. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." PMID:25726292

  18. Evaluation of congenital heart disease by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

  19. Developmental outcomes of Down syndrome and Dandy-Walker malformation

    OpenAIRE

    Love, Kaitlin; Huddleston, Lillie; Olney, Pat; Wrubel, David; Visootsak, Jeannie

    2011-01-01

    Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expre...

  20. Pediatric glans penis malformations

    Directory of Open Access Journals (Sweden)

    Yi?it Ak?n

    2012-03-01

    Full Text Available Lesions of the pediatric glans penis are uncommon but important for pediatric urological care. Pediatric glans penis lesions have been reported more frequently in the literature in recent years. The lesions are diagnosed at birth or with advancing age. All lesions are benign and diagnosed with a simple physical examination and radiological evaluation. Although, a minority of these lesions have been linked with malignant transformation, the malignant transformation has not been reported for the pediatric glans penis in the literature. After diagnosis and treatment, long-term follow-up is very important. To date, the literature describes 142 pediatric glans penis malformations. We prepared a comprehensive study by using data from 2 different clinics and added 3 new cases from our institutions. The common glans penis anomalies, which are hypospadiac-epispadiac anomalies, were excluded.

  1. Identification of congenital cardiac malformations by echocardiography in midtrimester fetus.

    OpenAIRE

    Allan, L. D.; Tynan, M.; Campbell, S.; Anderson, R. H.

    1981-01-01

    Fetal echocardiograms were performed in 21 pregnancies before midtrimester termination. All fetal heart specimens were collected and studied morphologically. Eighteen had been diagnosed as normal echocardiographically and this was confirmed anatomically. Deficiency of the atrial septum was suspected in one, and primum and secundum atrial septal defects were found anatomically. Coarctation of the aorta was suspected in another and this was confirmed anatomically. A ventricular septal defect wa...

  2. Lung development in congenital diaphragmatic hernia : an experimental study in a rat model of pulmonary hypoplasia and congenital diaphragmatic hernia induced by Nitrofen

    OpenAIRE

    Brandsma, A. E.

    1995-01-01

    Approximately 3% of human neonates are born with one or multiple congenital malformations (Nadler 1986). The birth of a child with a physical or mental handicap presents considerable problems with which both parents and the child must cope and raises questions about the cause. Despite our increasing knowledge of genetics and embryology, many times the answers cannot be given; the etiology of the majority of malformations is still a maze of unknowns (table; McKusick 1992; Wilson...

  3. Evaluation of cases with congenital muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Ute Hehr

    2009-03-01

    Full Text Available Aim: The aim of this study is to evaluate clinical and radiological features of our cases with congenital muscular dystrophy. Material and Method: The data of cases who were diagnosed with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine between July 2005 and July 2008 were analysed retrospectively. Results: A total of 13 cases were evaluated. Among the 13 cases, seven (53% were boys and six (47% were girls. Seven patients (53% were in the alfa dystroglycanopathy group, five patients (38% were in collagen VI related congenital muscular dystrophy group and one patient (9% was in “rigid spine” group. The mean age of cases with alfa dystroglycanopathy and collagen VI related congenital muscular dystrophy were 3.57±2.92 (0.5-7 and 10.83±5.67 (1-16 years, respectively. In alfa dystroglycanopathy group, five cases (71% had eye involvement and six cases (85% had developmental malformations of the central nervous system. All cases had brainstem hypoplasia and six cases (85% had cerebellar cysts. In collagen VI related congenital muscular dystrophy group, the main complaints were retardation in motor mile stones, contractures in proximal joints and hyperlaxicity in distal joints. The most important clinical features in the case diagnosed with “rigid spine” syndrome were severe scoliosis and muscle atrophy. Conclusions: The clinical features of congenital muscular dystrophies are heterogenous and increase in number of cases diagnosed as congenital muscular dystrophy should give an opportunity to determine the incidence of different types of congenital muscular dystrophies in our country.

  4. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    International Nuclear Information System (INIS)

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig

  5. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Sumner, T.E.; Auringer, S.T.; Cox, T.D. [Department of Radiology, Bowman Gray School of Medicine, Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157-1088 (United States)

    1997-10-01

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig.

  6. Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

    Directory of Open Access Journals (Sweden)

    Ghachem Maher

    2007-01-01

    Full Text Available Abstract We report a male child with Oromandibular-limb hypogenesis (OMLH, the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT scanning of this area identified: a congenital hypoplasia of the atlas; b the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.

  7. Facial vascular malformations in children

    International Nuclear Information System (INIS)

    The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

  8. Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers.

    LENUS (Irish Health Repository)

    Campbell, E

    2014-09-01

    Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The magnitude of this risk varies by AED exposure. Here we provide updated results from the UK Epilepsy and Pregnancy Register of the risk of MCMs after monotherapy exposure to valproate, carbamazepine and lamotrigine.

  9. Congenital skeletal abnormalities in a tawny owl chick (Strix aluco).

    Science.gov (United States)

    Barreiro, Andrés; de Trocóniz, Patricia Fdez; Vila, Mónica; López-Beceiro, Ana M; Pereira, José L

    2003-01-01

    In this case report, we describe a tawny owl chick (Strix aluco) coming from a Wild Fauna Recovery Center with multiple congenital malformations in the limbs. The animal was unable to fly and showed marked malnutrition and poor general appearance. Physical, radiologic, and anatomic examinations showed osseous malformations including dislocation of radius and carpometacarpus with abnormal nonfunctional fixation of ligamentum propatagialis, absence of most parts of the bones of the manus in both wings, and twisted nonfused left tarsometatarsus with marked griphosis of digits. Routine toxicologic and pathologic examinations did not reveal a specific etiology. PMID:14562912

  10. Congenital syphilis

    International Nuclear Information System (INIS)

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of me (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  11. Congenital epulis

    Directory of Open Access Journals (Sweden)

    Adeyemi Bukola

    2010-01-01

    Full Text Available Congenital epulis of the newborn is a very rare and unique tumor first described in 1871 by Neuman. It has a female predilection. It is a tumor with no tendency to recur after excision. The histogenesis of the lesion is unknown, but it is believed to be of mesenchymal origin. We report a 2-day-old female with tumor mass on the anterior mandibular alveolar ridge, which demonstrated immunoreactivity for vimentin, S-100 and neuron-specific enolase; thus, suggesting a similar histogenesis with granular cell tumor.

  12. Malformación adenomatoidea quística pulmonar Pulmonary cystic adenomatoid malformation

    Directory of Open Access Journals (Sweden)

    Adis Luisa Peña Cedeño

    2012-09-01

    Full Text Available Introducción: la malformación adenomatoidea quística pulmonar descrita por Bartholinuis en 1687 es una entidad poco frecuente, caracterizada por un sobrecrecimiento de bronquiolos principales terminales los cuales sustituyen a los alveolos, produciendo aumento de volumen del lóbulo afectado. Objetivo: mostrar los hallazgos necrópsicos de un caso de malformación adenomatoidea quística congénita pulmonar, utilizando la clasificación propuesta por Stocker y otros. Métodos: se realiza revisión de la literatura sobre la entidad y de la historia clínica de la gestante. Resultados: se trata de una gestante de 21 años que acude al Hospital Ginecobstétrico Docente de Guanabacoa en el mes de febrero del 2010 para interrupción de la gestación por presentar un ultrasonido que a las 24 sem mostró la presencia de quistes pulmonares, desplazamiento del mediastino, hidrotórax, ascitis y polihidramnios. Este proceder se realizó con éxito y se hizo el estudio anatomopatológico del feto. Conclusiones: se diagnosticó malformación adenomatoidea quística pulmonar tipo III en una edad gestacional temprana, una alteración pulmonar poco frecuente, que permitió la decisión informada para la interrupción de la gestación.Introduction: congenital cystic adenomatoid malformation of the lung described by Bartholinuis in 1687 is a rare entity characterized by an overgrowth of the main terminal bronchioles which replaced the alveoli, causing enlargement of the affected lobe. Objective: to show the autopsy findings of a case of congenital cystic adenomatoid malformation of the lung, using the classification proposed by Stocker and others. Methods: literature review on organizational and medical records of pregnant women is conducted. Results: this is a twenty- one year- old pregnant woman who goes to the Gynecobstetric Teaching Hospital of Guanabacoa in February 2010 for termination of pregnancy since an ultrasound at 24 weeks showed the presence of lung cysts, mediastinal shift, hydrothorax, ascites, and polyhydramnios. This approach was successful and the pathology study of the fetus was performed. Conclusions: type III cystic adenomatoid lung malformation was diagnosed in early gestation, which is a rare lung disorder. This situation allowed informed decision for termination of pregnancy.

  13. Intralesional radiofrequency in venous malformations.

    Science.gov (United States)

    Garg, S; Kumar, S; Singh, Y B

    2015-03-01

    Venous malformations are usually asymptomatic and managed conservatively. Treatment, in the form of laser, sclerotherapy, or resection, is needed only if lesions present with symptoms or cosmetic deformity. The aim of this study was to find out how effective radiofrequency ablation was in patients with incomplete or unsatisfactory resolution of a venous malformation after an intralesional injection of bleomycin. During the 5 year period 2008-2012, we organised a prospective, clinical study at a tertiary care centre. Patients were selected from the outpatient department of the Lady Hardinge Medical College and associated hospitals, New Delhi, India. Five patients with venous malformations were treated by intralesional injection of bleomycin in a dose of 0.5U/kg body weight, which was repeated every 2 weeks for a total of 8 injections. They then had multiple intralesional radiofrequency ablation every 2 months until a satisfactory outcome was achieved. After the initial 8 doses the reduction in the size of the lesions was minimal (less than 50%). After 2-4 applications of radiofrequency ablation there was appreciable reduction in the size of the lesions (about 80%) with good functional and cosmetic outcomes. Radiofrequency ablation is an effective adjunct for patients with venous malformations of the head and neck that have not responded satisfactorily to intralesional injection of bleomycin. To our knowledge radiofrequency ablation after intralesional injection of bleomycin has not previously been described as a treatment for venous malformations. PMID:25554592

  14. Anquilobléfaron filiforme adherente y otras malformaciones Ankyloblepharon filiforme adnatum and other malformations

    Directory of Open Access Journals (Sweden)

    Josefa Rodríguez Vargas

    2003-06-01

    Full Text Available Se realizó un examen físico a un recién nacido con malformaciones presentadas en el momento del parto, de un embarazo valioso de la raza negra, presentó los párpados superior e inferior de ambos ojos unidos por finas bandas en número variable que impedían la separación y los movimientos normales. Además asociado a labio leporino y hendidura palatina. Luego de descartar otras malformaciones congénitas, fue intervenido para reparar la malformación. Su estado actual es normal, después de la recanalización de sus otras anomalías.A physical examination was made to a newborn of the black race with malformations at the time of delivery. His upper and lower eyelids were united by a variable number of fine bands that impeded the separation and the normal movements. It was also associated with cleft lip and palate. After discarding other congenital malformations, he was operated on to repair the malformation. His present state is normal after the recanalization of his other abnormalities.

  15. Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.

    Science.gov (United States)

    Papetti, Laura; Tarani, Luigi; Nicita, Francesco; Ruggieri, Martino; Mattiucci, Chiara; Mancini, Francesca; Ursitti, Fabiana; Spalice, Alberto

    2012-02-01

    Macrocephaly-capillary malformation (M-CM) is characterized by prenatal overgrowth, variable somatic and cerebral asymmetry, primary megalencephaly, characteristic facial features, an abnormal neurocognitive profile and cutaneous vascular malformations. It was previously known under the name macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC). However a recent review of the previously reported cases has suggested that the vascular anomalies are not true CMTC but rather capillary malformations. The diagnosis is primary clinical and different criteria have been proposed for this purpose. However, M-CM is frequently associated with structural brain abnormalities that should be properly investigated and monitored because of their possible progressive development. We report the neuroradiological and morphological features observed in a girl with M-CM and we compared them with proposed diagnostic criteria found in the literature. PMID:21354731

  16. Intra-operative sclerotherapy for treatment of a head and neck venous malformation.

    Science.gov (United States)

    Kourelis, K; Johnson, P; Girod, D

    2015-02-01

    Venous malformations of the head and neck are congenital lesions that grow steadily without spontaneous regression. We describe the management of a 47-year-old woman with an extensive subcutaneous venous malformation of bilateral submandibular regions and the entire tongue, refractory to multiple surgical excisions and percutaneous sclerotherapy sessions. The tumour lacked prominent feeding arteries for embolisation, but maintained high blood outflow via a few substantial venous branches. Sclerotherapy to the lesion was prevented by major communicating branches from the mass to the internal jugular vein bilaterally. Our approach entailed direct surgical access to the malformation, ligation of these communicating veins and intraoperative sclerotherapy with ethanol injection into the vessel stumps. PMID:26015655

  17. Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

    OpenAIRE

    Mahmoud Adel, A. H.; Abdullah, A. Al Jabri; Eissa, Faqeih

    2013-01-01

    We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection. The pregnancy wa...

  18. Uterine arteriovenous malformation caused by intrauterine instrumentation for laparoscopic surgery due to left tubal pregnancy

    OpenAIRE

    Chang, Kylie Hae-jin; Park, Jong-kyu; Park, Sung-ho; Kim, Hong-bae; Park, Sung-taek

    2014-01-01

    Uterine arteriovenous malformation (AVM) is a rare entity in gynecology with fewer than 100 cases reported in the literature. Due to abnormal connection between arteries and veins without an intervening capillary system, recurrent and profuse vaginal bleeding is the most common symptom which can be potentially life-threatening. Uterine AVM can be either congenital or acquired. Acquired AVM is reported as a consequence of previous uterine trauma such as curettage procedures, caesarean section ...

  19. Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

    OpenAIRE

    Ghachem Maher; Safi Hatem; Grill Franz; Kaissi Ali; Chehida Farid; Klaushofer Klaus

    2007-01-01

    Abstract We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developme...

  20. Parental risk factors and anorectal malformations: systematic review and meta-analysis

    OpenAIRE

    Zwink Nadine; Jenetzky Ekkehart; Brenner Hermann

    2011-01-01

    Abstract Background Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors. Methods Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Li...

  1. The diagnostic value of radiologic examination in brain tumors, malformations and vascular diseases

    International Nuclear Information System (INIS)

    The diagnostic value of neuroradiology, unaided by clinical information, has been studied in brain tumors, vascular diseases and congenital malformations in order to assess the role of radiology in neurology, with emphasis on the CT scan and angiography. For each disease the authors have reviewed their cases, sometimes using a computed program (as with posterior fossa tumors), and the literature in clinical neurology and in neuroradiology. (Auth.)

  2. Arteriovenous malformations: Ethanolamine oleate sclerotherapy

    Directory of Open Access Journals (Sweden)

    Hyodoh K.

    2007-01-01

    Full Text Available Peripheral vascular malformations are now described according to some accepted guidelines, and the principle of proper treatment (nodus ablation is becoming clear. An appropriate classification schema for vascular anomalies and definite indications for treatment are important to successful treatment overall. Non-invasive imaging (US, CT, and MRI in association with clinical findings is critical in establishing the diagnosis, evaluating the extent of the malformation, and planning appropriate treatment. Direct nidus phlebography is useful not only in making a correct diagnosis but also in treating the lesion by sclerotherapy. When a patient suffers clinical complications, the nidus sclerotherapy becomes mandatory. If the vascular malformation remains bloodstream to a drainage vein during nidus opacification, flow control is necessary to achieve complete nidus ablation. A multidisciplinary approach is needed in the treatment of a high-flow lesion. A dedicated team approach is necessary for appropriate management in most cases. .

  3. Myelodysplasia in children with anorectal malformations

    Directory of Open Access Journals (Sweden)

    Karine Furtado Meyer

    2006-09-01

    Full Text Available Objective: To compare computed tomography and magneticresonance imaging accuracy to diagnose myelodysplasia inpatients with anorectal anomaly, to verify the prevalence of tetheredspinal cord, and to investigate if there is a direct relation betweenthe presence of myelodysplasia and type of anorectal anomaly,bone alteration, functional prognosis and associated malformationsin these patients. Methods: Thirty five patients with anorectalanomaly were studied using computed tomography and magneticresonance imaging of lumbosacral spine. Myelodysplasia wasanalyzed in terms of spinal computed tomography findings, type ofanorectal anomaly, sacral alterations, presence of associatedanomalies and fecal and urinary continence. Results: Magneticresonance imaging showed myelodysplasia in 45% of patients,and computed tomography provided correct diagnosis of the spinalcondition in only 66% of subjects. Myelodysplasia was observedeven in low anorectal anomalies. No association was found betweenmyelodysplasia in magnetic resonance imaging and presence ofvertebral alterations; associated anomalies; fecal and urinarycontinence. Prevalence of tethered spinal cord was of 14%.Conclusions: The best exam to diagnose myelodysplasia ismagnetic resonance imaging. Vertebral malformations, urinary andfecal continence and presence of associated anomalies were notgood indicators of myelodysplasia, but they could indicate tetheredspinal cord.

  4. Malformed frog survey Dahomey NWR - 2001

    US Fish and Wildlife Service, Department of the Interior — Report contains field data assoicated with malformed frog survey on Dahomey NWR in 2001 Report contains field data sheets assoicated with malformed frog survey on...

  5. Congenital absence of the portal vein presenting as pulmonary hypertension

    International Nuclear Information System (INIS)

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension

  6. Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.

    Science.gov (United States)

    Kölble, N; Wisser, J; Babcock, D; Maslen, C; Huch, R; Steinmann, B

    2002-10-01

    Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed. PMID:12383326

  7. Variations of CITED2 Are Associated with Congenital Heart Disease (CHD) in Chinese Population

    OpenAIRE

    Liu, Yan; Wang, Fengyu; Wu, Yuan; Tan, Sainan; Wen, Qiaolian; Wang, Jing; Zhu, Xiaomei; Wang, Xi; Li, Congmin; Ma, Xu; Pan, Hong

    2014-01-01

    CITED2 was identified as a cardiac transcription factor which is essential to the heart development. Cited2-deficient mice showed cardiac malformations, adrenal agenesis and neural crest defects. To explore the potential impact of mutations in CITED2 on congenital heart disease (CHD) in humans, we screened the coding region of CITED2 in a total of 700 Chinese people with congenital heart disease and 250 healthy individuals as controls. We found five potential disease-causing mutations, p.P140...

  8. Incidence and prognosis of congenital aortic valve stenosis in Liverpool (1960-1990).

    OpenAIRE

    Kitchiner, D J; Jackson, M.; Walsh, K.; Peart, I; Arnold, R.

    1993-01-01

    OBJECTIVE--To determine the incidence and prognosis of congenital aortic valve stenosis in the five Health Districts of Liverpool that make up the Merseyside area. DESIGN--The records of the Liverpool Congenital Malformations Registry and the Royal Liverpool Children's Hospital identified 239 patients (155 male, 84 female) born with aortic valve stenosis between 1960 and 1990. Patients were traced to assess the severity of stenosis at follow up. Information on the severity at presentation and...

  9. Congenital hepatoportal arteriovenous fistula associated with intrahepatic portal vein aneurysm and portohepatic venous shunt: case report

    International Nuclear Information System (INIS)

    A congenital hepatoportal arteriovenous fistula associated with an intrahepatic portal vein aneurysm is a rare type of arteriovenous malformation. Only 14 pediatric cases have been reported to the best of the authors' knowledge. An intrahepatic shunt between the portal and systemic veins is also relatively rare. We report a case of a congenital hepatoportal arteriovenous fistula associated with an intrahepatic portal vein aneurysm and a portohepatic venous shunt in a neonate who presented with tachypnea and melena

  10. Congenital hepatoportal arteriovenous fistula associated with intrahepatic portal vein aneurysm and portohepatic venous shunt: case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Hwa; Shin, Tae Beom; Kang, Myong Jin; Yoon, Seong Kuk; Oh, Jong Young; Choi, Jong Cheol; Park, Byeong Ho; Choi, Sun Seob; Nam, Kyung Jin [College of Medicine, Donga University, Busan (Korea, Republic of)

    2005-08-15

    A congenital hepatoportal arteriovenous fistula associated with an intrahepatic portal vein aneurysm is a rare type of arteriovenous malformation. Only 14 pediatric cases have been reported to the best of the authors' knowledge. An intrahepatic shunt between the portal and systemic veins is also relatively rare. We report a case of a congenital hepatoportal arteriovenous fistula associated with an intrahepatic portal vein aneurysm and a portohepatic venous shunt in a neonate who presented with tachypnea and melena.

  11. Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage

    OpenAIRE

    Martin, Paul T

    2006-01-01

    Recent studies have defined a group of muscular dystrophies, now termed the dystroglycanopathies, as novel disorders of glycosylation. These conditions include Walker–Warburg syndrome, muscle–eye–brain disease, Fukuyama-type congenital muscular dystrophy, congenital muscular dystrophy types 1C and 1D, and limb-girdle muscular dystrophy type 2I. Although clinical findings can be highly variable, dystroglycanopathies are all characterized by cortical malformations and ocular defects at th...

  12. Clinical and radiological findings in arnold chiari malformation

    International Nuclear Information System (INIS)

    Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like sylike episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible for headaches, pseudotumor-like episodes, endo lymphatic hydrops, syringomyelia, and hydrocephalus) and direct compression of nervous tissue. (author)

  13. Congenital fibrosis of the extraocular muscles

    Directory of Open Access Journals (Sweden)

    Cooymans Pascale

    2010-01-01

    Full Text Available Background : Congenital fibrosis of the extraocular muscles (CFEOM describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3 and the trochlear (CN 4 nerves, and/or the muscles these nerves innervate. Aim : To describe the clinical and neuro-radiological findings in three patients with CFEOM and review literature with respect to clinical features, genetics and management of this condition. Materials and Methods : A retrospective chart review was performed of three Omani patients who had been diagnosed with CFEOM in our institution. All patients had undergone standardized orthoptic and ocular evaluations and magnetic resonance imaging (MRI of the orbits and brain. Results : The three patients (age range nine months - 10 years presented a history of congenital strabismus. All patients had severe bilateral ptosis and mild to moderate visual impairment secondary to the ptosis and astigmatism. Two of three patients demonstrated a positive jaw-winking phenomenon. A moderate to large angle exotropia with varying amount of hypotropia and limitations of almost all the extra ocular muscles was noted. Patient 3 was also developmentally delayed. MRI brain and orbit showed abnormalities of the extraocular muscles in two patients and brain malformation in one patient. Conclusions : CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

  14. An understanding the genetic basis of congenital heart disease

    OpenAIRE

    Ramegowda Smitha; Ramachandra Nallur

    2005-01-01

    The recent exponential increase in the knowledge of genetics has revolutionized the understanding of congenital heart diseases (CHDs) during the past few decades. Prior studies have reported the influence of Mendelian disorders on CHDs to be very small, when compared to the polygenic inheritance, which constituted a higher percentage. The recent findings of candidate genes responsible for CHDs have provided new insights into the genetic basis of heart malformation. Here we reviewed the unders...

  15. Tessier Number 30 Clefts With Congenital Heart Defects

    Science.gov (United States)

    Tafreshi, Mona; Aminolsharieh Najafi, Soroosh; Hasheminejad, Reyhaneh; Mirfazeli, Arezoo; Shafiee, Akbar

    2015-01-01

    Introduction: Midline cleft of mandible, classified as Tessier 30 clefts is extremely rare, with less than 100 reported cases in the latest studies. Variations in severity and associated malformations have been reported before. Case Presentation: In this report, we present the first documented Iranian case of Tessier 30 with median cleft of lower lip and bifid tongue concomitant with congenital heart defects. Conclusions: We explain embryologic origin, differential diagnosis, other associated anomalies and its treatment by reviewing literature.

  16. Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

    OpenAIRE

    Romani, Marta; Micalizzi, Alessia; Valente, Enza Maria

    2013-01-01

    Joubert syndrome (JS) is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, which diagnostic hallmark is a unique cerebellar and brainstem malformation recognizable on brain imaging, the “molar tooth sign”. Neurological signs are present from neonatal age and include hypotonia evolving into ataxia, global developmental delay, ocular motor apraxia and breathing dysregulation. These are variably associated with multiorgan involvement, mainly of the retina, kidn...

  17. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

    Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

  18. Congenital Semilunar Valvulogenesis Defect in Mice Deficient in Phospholipase C?†

    OpenAIRE

    Tadano, Makoto; Edamatsu, Hironori; Minamisawa, Susumu; Yokoyama, Utako; Ishikawa, Yoshihiro; Suzuki, Noboru; Saito, Hiromitsu; Wu, Dongmei; Masago-toda, Misa; Yamawaki-kataoka, Yuriko; Setsu, Tomiyoshi; Terashima, Toshio; Maeda, Sakan; Satoh, Takaya; Kataoka, Tohru

    2005-01-01

    Phospholipase C? is a novel class of phosphoinositide-specific phospholipase C, identified as a downstream effector of Ras and Rap small GTPases. We report here the first genetic analysis of its physiological function with mice whose phospholipase C? is catalytically inactivated by gene targeting. The hearts of mice homozygous for the targeted allele develop congenital malformations of both the aortic and pulmonary valves, which cause a moderate to severe degree of regurgitation with mild s...

  19. Arteriovenous Malformation: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Yeon Hwa [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Pusan National University, Pusan (Korea, Republic of)

    1999-08-15

    The present case illustrates an arteriovenous malformation of the cheek in a 25-year-old male. The clinical presentation, radiographic findings, differential diagnosis, treatment and histopathologic description are presented. Diagnosis of the lesion was confirmed by angiography, and the lesion was treated by angiographically controlled vascular embolization followed by complete surgical excision.

  20. Temporal bone CT analysis of congenital ear anomalies

    International Nuclear Information System (INIS)

    Authors analysed the CT findings of the congenital ear anomalies of twenty-nine patients for 2 years and 3 months. The results were as follows: 1. Most of the patients were under the age of 20 (82.7%) and prevalent in male (72.4%). 2. Clinically, congenital ear anomalies were detected in 20 patients (68.9%), conductive hearing loss in 4, sensorineural hearing loss in 1, and the remained 4 patients were detected incidentally without clinical symptom. 3. In the cases of unilateral involvement of 20 patients, right ear was more common (12/20). Eight of 9 bilateral involvement showed similar degree. 4. The middle ear malformations were found in 22 patients (75.9%) and bilateral in 4 patients. 26 cases of middle ear malformations had been classified by Frey into 4 groups; Group I in 5, Group II in 9, Graoup III in 9 and Group IV in 3. 5. Incidentally found ear anomaly was lateral semicircular canal formed a single cavity with the vestibule in all patients (5 pts.). 6. Inner ear malformations accompanying sensorineural hearing loss were found in 3 patients with bilateral involvement and middle ear malformations were accompanied in 2 patients. The degree of involvement of labyrinth was variable.

  1. Classification and diagnosis of ear malformations

    Directory of Open Access Journals (Sweden)

    Bartel-Friedrich, Sylva

    2007-01-01

    Full Text Available In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90% and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC, middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to Kösling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation.

  2. Tratamiento quirúrgico de las malformaciones vasculares / Surgical treatment of vascular malformations

    Scientific Electronic Library Online (English)

    L., Fernández-Alonso.

    Full Text Available A pesar de los numerosos avances experimentados en las dos últimas décadas, el manejo de las malformaciones vasculares congénitas continúa siendo uno de los mayores enigmas de la medicina moderna sin que existan criterios claros en cuanto a las indicaciones para tratar, y mucho menos en cuanto a los [...] procedimientos terapéuticos más apropiados para cada tipo de lesión. Los resultados del abordaje estrictamente quirúrgico son desalentadores y hoy se admite que las malformaciones vasculares congénitas deben ser atendidas y tratadas por unidades multidisciplinares aunando los esfuerzos de todos los especialistas implicados en su manejo. En este trabajo se revisan los principios generales del tratamiento quirúrgico de las malformaciones vasculares congénitas sin perder de vista que el papel tradicional de la cirugía aislada en el tratamiento de las malformaciones vasculares congénitas ha sido sustituido por el enfoque multidisciplinar de este tipo de lesiones, permitiendo que la integración de la embolización, la escleroterapia y la cirugía mejoren los resultados. La combinación de estas técnicas reduce el riesgo y las complicaciones que existían cuando eran aplicadas de forma aislada. Por tanto, el tratamiento quirúrgico debe considerarse, no como una herramienta de tratamiento independiente sino como un arma terapéutica integrada en el conjunto de medidas encaminadas a mejorar la calidad de vida del paciente con una malformación vascular congénita Abstract in english In spite of the numerous advances made over the last two decades, the treatment of congenital vascular malformations continues to be one of the greatest enigmas facing modern medicine. There are no clear criteria concerning the indications to be followed, and even less concerning the most appropriat [...] e therapeutic procedures for each type of lesion. The results of a strictly surgical approach are discouraging and today it is accepted that congenital vascular malformations should be attended to and treated by multidisciplinary units, combining the efforts of all the specialists involved in its treatment. This paper reviews the general principles of surgical treatment of congenital vascular malformations, without losing sight of the fact that the traditional role of isolated surgery in the treatment of congenital vascular malformations has been replaced by a multidisciplinary approach to this type of lesions, making it possible to integrate embolization, sclerotherapy and surgery to improve the results. The combination of these techniques reduces the risk and complications that existed when they were applied in an isolated form. Thus, surgical treatment should not be considered as an independent tool of treatment but as a therapeutic weapon integrated in the ensemble of measures directed at improving the quality of life of the patient with a congenital vascular malformation.

  3. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

    Energy Technology Data Exchange (ETDEWEB)

    Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

    2005-02-01

    Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended.

  4. Functional characterization of the vertebrate primary ureter: Structure and ion transport mechanisms of the pronephric duct in axolotl larvae (Amphibia

    Directory of Open Access Journals (Sweden)

    Prehn Lea R

    2010-05-01

    Full Text Available Abstract Background Three kidney systems appear during vertebrate development: the pronephroi, mesonephroi and metanephroi. The pronephric duct is the first or primary ureter of these kidney systems. Its role as a key player in the induction of nephrogenic mesenchyme is well established. Here we investigate whether the duct is involved in urine modification using larvae of the freshwater amphibian Ambystoma mexicanum (axolotl as model. Results We investigated structural as well as physiological properties of the pronephric duct. The key elements of our methodology were: using histology, light and transmission electron microscopy as well as confocal laser scanning microscopy on fixed tissue and applying the microperfusion technique on isolated pronephric ducts in combination with single cell microelectrode impalements. Our data show that the fully differentiated pronephric duct is composed of a single layered epithelium consisting of one cell type comparable to the principal cell of the renal collecting duct system. The cells are characterized by a prominent basolateral labyrinth and a relatively smooth apical surface with one central cilium. Cellular impalements demonstrate the presence of apical Na+ and K+ conductances, as well as a large K+ conductance in the basolateral cell membrane. Immunolabeling experiments indicate heavy expression of Na+/K+-ATPase in the basolateral labyrinth. Conclusions We propose that the pronephric duct is important for the subsequent modification of urine produced by the pronephros. Our results indicate that it reabsorbs sodium and secretes potassium via channels present in the apical cell membrane with the driving force for ion movement provided by the Na+/K+ pump. This is to our knowledge the first characterization of the pronephric duct, the precursor of the collecting duct system, which provides a model of cell structure and basic mechanisms for ion transport. Such information may be important in understanding the evolution of vertebrate kidney systems and human diseases associated with congenital malformations.

  5. CT of the congenital heart diseases

    International Nuclear Information System (INIS)

    Full text: The purpose of this lecture is to examine the role of MDCT in the diagnosis of congenital cardiac malformations - when and how to apply it, as well as some problematic aspects. Imaging methods to study their diversity play a leading role in the earliest diagnosis and treatment of congenital cardiovascular malformations in children and underwent tremendous development over the past two decades. Application of MDCT as noninvasive, fast and high-informative method was able to complement the gaps between echocardiography, cardiac catheterization and MRI with new information. Advantages of the method are: short time of the display, extensive anatomical space and ECG synchronized scanning with the possibility of simultaneous imaging of cardiovascular and pulmonary structures. MDCT modern techniques with advanced options for further processing of the images allow precise assessment of extracardiac vessels, lung and airways simultaneously Coronary Vessel, intracardiac structures and entricular functional parameters. The disadvantages of the method are related to the risk of ionizing radiation and contrast medium administration. Application of MDCT in the diagnosis of cardiovascular diseases in children requires excellent understanding of normal and pathological characteristics of CT images and an optimal application of the scanning techniques

  6. Angiographic findings of the feeding arteries of auricular arteriovenous malformations

    International Nuclear Information System (INIS)

    Objective: To investigate the feeding arteries of auricular arteriovenous malformations (AVMs) with digital subtraction angiography. Methods: During the period form April 2006 to June 2011, angiography of bilateral external carotid, internal carotid and vertebral arteries was carried out in 14 patients with auricular AVMs. The origins and the branches of the feeding arteries of auricular AVMs were determined and recorded. The origins and distribution features of AVM feeding arteries were analyzed. Results: A total of 37 feeding arteries were observed in 14 patients. The feeding arteries were originated from posterior auricular artery (n=14), superficial temporal artery (n=14), occipital artery (n=7), contralateral superficial temporal artery (n=1) or vertebral artery (n=1). Blood supply of auricular AVMs from internal carotid artery or from its branches was not seen. Conclusion: The blood supply of auricular AVMs is mainly from the branches of ipsilateral external carotid artery, including posterior auricular artery, superficial temporal artery and occipital artery. Rarely, auricular AVMs can get their blood supply from contralateral superficial temporal artery or vertebral artery, and interventional radiologists should be aware of such unusual feeding arteries. (authors)

  7. Different Aspects of Kidney Function in Well-Controlled Congenital Hypothyroidism

    OpenAIRE

    Gheissari, Alaleh; Hashemipour, Mahin; Khosravi, Pooya; Adibi, Atoosa

    2012-01-01

    Objective: Congenital hypothyroidism (CH) increases the prevalence of kidney and urogenital malformations. There are limited studies considering different aspects of kidney function in well-controlled CH patients. We evaluated some features of kidney function in euthyroid children with CH who have been receiving thyroxine hormone since early life.

  8. Congenital platelet function defects

    Science.gov (United States)

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause ... function, even though there are normal platelet counts. ...

  9. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  10. Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Department of Pediatric Surgery and Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Stanek, Jerzy [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

    2014-04-15

    We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

  11. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG)

  12. Genetics of cerebral cavernous malformations.

    Science.gov (United States)

    Plummer, Nicholas W; Zawistowski, Jon S; Marchuk, Douglas A

    2005-09-01

    The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM). This article summarizes the recent cloning of the CCM1, CCM2, and CCM3 genes, which are responsible for autosomal dominant CCM, and also describes current hypotheses for their roles in integrin and p38 mitogen-activated protein kinase- mediated regulation of angiogenesis. A mouse model of CCM has been generated by mutation of the Ccm1 gene, and it indicates a role for that protein in arterial development. Future studies will probably focus on integration of data from each of the three CCM genes into a single model of the pathogenesis of cavernous malformation. PMID:16131422

  13. Neuroimaging of cerebral cavernous malformations.

    Science.gov (United States)

    Klostranec, J M; Krings, T

    2015-09-01

    Cerebral cavernous malformations (CCMs) are vascular malformations of the brain and brainstem that arise via a number of different mechanisms and can result in non-specific presentations. Therefore, medical imaging is essential in the diagnosis of these lesions and important to guide their clinical or surgical management. MRI is the modality of choice with newer protocols, such as susceptibility weighted imaging, playing an increasingly important role in the detection of CCMs. In this review we will discuss lesion structure, its proposed origins, and common lesion presentations and complications, before covering their expected appearances with different imaging modalities. We conclude with a discussion of insights about lesion behaviour acquired from advanced imaging techniques and provide a general approach to characterizing and diagnosing CCM lesions with neuroimaging. PMID:25968928

  14. Developmental outcomes of Down syndrome and Dandy-Walker malformation.

    Science.gov (United States)

    Love, Kaitlin; Huddleston, Lillie; Olney, Pat; Wrubel, David; Visootsak, Jeannie

    2011-01-01

    Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy. PMID:22866020

  15. A girl with sternal malformation/vascular dysplasia association

    Directory of Open Access Journals (Sweden)

    Na Yong Lee

    2013-03-01

    Full Text Available Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.

  16. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    Science.gov (United States)

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. PMID:25650280

  17. Congenital hyperinsulinism.

    Science.gov (United States)

    Arnoux, Jean-Baptiste; de Lonlay, Pascale; Ribeiro, Maria-Joao; Hussain, Khalid; Blankenstein, Oliver; Mohnike, Klaus; Valayannopoulos, Vassili; Robert, Jean-Jacques; Rahier, Jacques; Sempoux, Christine; Bellanné, Christine; Verkarre, Virginie; Aigrain, Yves; Jaubert, Francis; Brunelle, Francis; Nihoul-Fékété, Claire

    2010-05-01

    Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due to an inappropriate insulin secretion by the pancreatic islet beta cells. HI has two main characteristics: a high glucose requirement to correct hypoglycemia and a responsiveness of hypoglycemia to exogenous glucagon. HI is usually isolated but may be rarely part of a genetic syndrome (e.g. Beckwith-Wiedemann syndrome, Sotos syndrome etc.). The severity of HI is evaluated by the glucose administration rate required to maintain normal glycemia and the responsiveness to medical treatment. Neonatal onset HI is usually severe while late onset and syndromic HI are generally responsive to a medical treatment. Glycemia must be maintained within normal ranges to avoid brain damages, initially with glucose administration and glucagon infusion then, once the diagnosis is set, with specific HI treatment. Oral diazoxide is a first line treatment. In case of unresponsiveness to this treatment, somatostatin analogues and calcium antagonists may be added, and further investigations are required for the putative histological diagnosis: pancreatic (18)F-fluoro-L-DOPA PET-CT and molecular analysis. Indeed, focal forms consist of a focal adenomatous hyperplasia of islet cells, and will be cured after a partial pancreatectomy. Diffuse HI involves all the pancreatic beta cells of the whole pancreas. Diffuse HI resistant to medical treatment (octreotide, diazoxide, calcium antagonists and continuous feeding) may require subtotal pancreatectomy which post-operative outcome is unpredictable. The genetics of focal islet-cells hyperplasia associates a paternally inherited mutation of the ABCC8 or the KCNJ11 genes, with a loss of the maternal allele specifically in the hyperplasic islet cells. The genetics of diffuse isolated HI is heterogeneous and may be recessively inherited (ABCC8 and KCNJ11) or dominantly inherited (ABCC8, KCNJ11, GCK, GLUD1, SLC16A1, HNF4A and HADH). Syndromic HI are always diffuse form and the genetics depend on the syndrome. Except for HI due to potassium channel defect (ABCC8 and KCNJ11), most of these HI are sensitive to diazoxide. The main points sum up the management of HI: i) prevention of brain damages by normalizing glycemia and ii) screening for focal HI as they may be definitively cured after a limited pancreatectomy. PMID:20550977

  18. Magnetic resonance imaging of congenital abnormalities of the thoracic aorta

    Energy Technology Data Exchange (ETDEWEB)

    Soler, R.; Rodriguez, E.; Requejo, I.; Fernandez, R. [Department of Radiology, Hospital Juan Canalejo, La Coruma (Spain); Raposo, I. [Department of Pediatric Cardiology, Hospital Juan Canalejo, La Coruna (Spain)

    1998-05-01

    This article outlines the ability of MR imaging in the detection and presurgical evaluation of congenital abnormalities of the thoracic aorta (CATA). Congenital abnormalities of the thoracic aorta may be found incidentally on chest radiographs in patients without symptoms, or it can be associated with clinical findings which are very variable depending on the association with congenital cardiac malformations or vascular ring. When CATA is suspected as the cause of anomalies in the mediastinum in asymptomatic patients, confirmation of the abnormality should be by MR imaging allowing precise evaluation of the thoracic aorta and origin of the principal arteries. When CATA is considered because clinical findings indicate coarctation of the aorta, vascular ring or associated cardiac disorder, evaluation with ultrasound can be complemented by MR, which in most cases will replace the diagnostic catheterization. (orig.) With 12 figs., 24 refs.

  19. Testing Skills in Vertebrates

    Science.gov (United States)

    Funk, Mildred Sears; Tosto, Pat

    2007-01-01

    In this article, the authors present a project that gives students examples of basic skills that many vertebrate species develop as they grow and function in their ecosystem. These activities involve information gathering about surroundings, learning how to use objects, and tracking and searching skills. Different vertebrate species may acquire…

  20. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

  1. Effect of Fungicides on Mango Malformation

    OpenAIRE

    Faqir Muhammad; Muhammad Ibrahim; Aslam Pervez, M.

    1999-01-01

    Present studies were carried out to observe the effect of fungicides on mango malformation. The fungicides i.e. Benlate and Topsin-M were used at the rate of 0.2 per cent. Spray was made in July with an idea to control the mango malformation which was found more frequent on late season flushes. Both the fungicides reduced the incidence of malformation during the next blooming season. More number of malformed panicles were observed on untreated plants than treated ones. Among fungicides, Benla...

  2. Embryonal rhabdomyosarcoma of the lung arising in cystic adenomatoid malformation: case report and review of the literature.

    Science.gov (United States)

    d'Agostino, S; Bonoldi, E; Dante, S; Meli, S; Cappellari, F; Musi, L

    1997-09-01

    Rhabdomyosarcoma (RMS) of the lung is a very rare lesion, but the association with cystic adenomatoid malformation (CCAM) is unlikely to be a coincidence. Although the etiologic factors predisposing infants and children to pulmonary neoplasms are unknown, pulmonary developmental abnormalities may play a pathogenetic role. A case of embryonal pulmonary RMS is described, which was discovered within a congenital CCAM in a 22-month-old child. The hypothesis regarding histogenesis of this neoplasm are also briefly discussed. Because of the risk of malignant change, early removal of the congenital cystic lesions of the lung is advisable. PMID:9314270

  3. Is Congenital Syphilis Really Congenital Syphilis?

    OpenAIRE

    Bernard Gonik; Yi Li

    2006-01-01

    Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US). However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital ...

  4. Malformación adenomatoidea quística pulmonar / Pulmonary cystic adenomatoid malformation

    Scientific Electronic Library Online (English)

    Adis Luisa, Peña Cedeño; Maritza, Pardo Mederos; Elizabeth, Quesada Alemán; Teresa Eufemia, Argüelles Mederos.

    2012-09-01

    Full Text Available Introducción: la malformación adenomatoidea quística pulmonar descrita por Bartholinuis en 1687 es una entidad poco frecuente, caracterizada por un sobrecrecimiento de bronquiolos principales terminales los cuales sustituyen a los alveolos, produciendo aumento de volumen del lóbulo afectado. Objetiv [...] o: mostrar los hallazgos necrópsicos de un caso de malformación adenomatoidea quística congénita pulmonar, utilizando la clasificación propuesta por Stocker y otros. Métodos: se realiza revisión de la literatura sobre la entidad y de la historia clínica de la gestante. Resultados: se trata de una gestante de 21 años que acude al Hospital Ginecobstétrico Docente de Guanabacoa en el mes de febrero del 2010 para interrupción de la gestación por presentar un ultrasonido que a las 24 sem mostró la presencia de quistes pulmonares, desplazamiento del mediastino, hidrotórax, ascitis y polihidramnios. Este proceder se realizó con éxito y se hizo el estudio anatomopatológico del feto. Conclusiones: se diagnosticó malformación adenomatoidea quística pulmonar tipo III en una edad gestacional temprana, una alteración pulmonar poco frecuente, que permitió la decisión informada para la interrupción de la gestación. Abstract in english Introduction: congenital cystic adenomatoid malformation of the lung described by Bartholinuis in 1687 is a rare entity characterized by an overgrowth of the main terminal bronchioles which replaced the alveoli, causing enlargement of the affected lobe. Objective: to show the autopsy findings of a c [...] ase of congenital cystic adenomatoid malformation of the lung, using the classification proposed by Stocker and others. Methods: literature review on organizational and medical records of pregnant women is conducted. Results: this is a twenty- one year- old pregnant woman who goes to the Gynecobstetric Teaching Hospital of Guanabacoa in February 2010 for termination of pregnancy since an ultrasound at 24 weeks showed the presence of lung cysts, mediastinal shift, hydrothorax, ascites, and polyhydramnios. This approach was successful and the pathology study of the fetus was performed. Conclusions: type III cystic adenomatoid lung malformation was diagnosed in early gestation, which is a rare lung disorder. This situation allowed informed decision for termination of pregnancy.

  5. Verification of data in congenital cardiac surgery.

    Science.gov (United States)

    Clarke, David R; Breen, Linda S; Jacobs, Marshall L; Franklin, Rodney C G; Tobota, Zdzislaw; Maruszewski, Bohdan; Jacobs, Jeffrey P

    2008-12-01

    Accurate, complete data is now the expectation of patients, families, payers, government, and even media. It has become an obligation of those practising congenital cardiac surgery. Appropriately, major professional organizations worldwide are assuming responsibility for the data quality in their respective registry databases. The purpose of this article is to review the current strategies used for verification of the data in the congenital databases of The Society of Thoracic Surgeons, The European Association for Cardio-Thoracic Surgery, and The United Kingdom Central Cardiac Audit Database. Because the results of the initial efforts to verify data in the congenital databases of the United Kingdom and Europe have been previously published, this article provides a more detailed look at the current efforts in North America, which prior to this article have not been published. The discussion and presentation of the strategy for the verification of data in the congenital heart surgery database of The Society of Thoracic Surgeons is then followed by a review of the strategies utilized in the United Kingdom and Europe. The ultimate goal of sharing the information in this article is to provide information to the participants in the databases that track the outcomes of patients with congenitally malformed hearts. This information should help to improve the quality of the data in all of our databases, and therefore increase the utility of these databases to function as a tool to optimise the management strategies provided to our patients. The need for accurate, complete and high quality Congenital Heart Surgery outcome data has never been more pressing. The public interest in medical outcomes is at an all time high and "pay for performance" is looming on the horizon. Information found in administrative databases is not risk or complexity adjusted, notoriously inaccurate, and far too imprecise to evaluate performance adequately in congenital cardiac surgery. The Society of Thoracic Surgeons and European Association for Cardio-Thoracic Surgery databases contain the elements needed for assessment of quality of care provided that a mechanism exists within these organizations to guarantee the completeness and accuracy of the data. The Central Cardiac Audit Database in the United Kingdom has an advantage in this endeavour with the ability to track and verify mortality independently, through their National Health Service. A combination of site visits with "Source Data Verification", in other words, verification of the data at the primary source of the data, and external verification of the data from independent databases or registries, such as governmental death registries, may ultimately be required to allow for optimal verification of data. Further research in the area of verification of data is also necessary. Data must be verified for both completeness and accuracy. PMID:19063789

  6. Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

    OpenAIRE

    Liquori, Christina L.; Berg, Michel J.; Siegel, Adrian M.; Huang, Elizabeth; Zawistowski, Jon S.; Stoffer, T’prien; Verlaan, Dominique; Balogun, Fiyinfolu; Hughes, Lori; Leedom, Tracey P.; Plummer, Nicholas W.; Cannella, Milena; Maglione, Vittorio; Squitieri, Ferdinando; Johnson, Eric W.

    2003-01-01

    Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report that a novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2). MGC4607, similar to the KRIT1 binding partner ICAP1?, encodes a protein with a phosphotyrosine-binding domain....

  7. Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? : A review

    DEFF Research Database (Denmark)

    Agergaard, Peter; Hebert, Anders

    2011-01-01

    No consensus exists regarding the ability to detect the 22q11 deletion syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical referral. Thus, individuals with typical manifestations are easily identified, but when manifestations are atypical or subclinical, diagnosis may be delayed or even missed. The aim of the present literature review was to evaluate the validity of clinical assessment as a method of predicting 22q11.2 deletions in individuals with congenital cardiac malformations.

  8. Genetics of congenital adrenal hyperplasia.

    Science.gov (United States)

    Krone, Nils; Arlt, Wiebke

    2009-04-01

    Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic cytochrome P450 (CYP) type II enzymes. The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of steroid 21-hydroxylase (CYP21A2) and 11beta-hydroxylase (CYP11B1) only affect adrenal steroidogenesis, whereas 17alpha-hydroxylase (CYP17A1) and 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency also impact on gonadal steroid biosynthesis. Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1-CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes. PMID:19500762

  9. Arsenic in drinking water and congenital heart anomalies in Hungary.

    Science.gov (United States)

    Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

    2014-11-01

    Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 ?g/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 ?g/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 ?g/L during pregnancy. Further studies of possible similar effects of concentrations below 10 ?g/L are warranted. PMID:24916166

  10. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  11. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    Science.gov (United States)

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. © 2015 Wiley Periodicals, Inc. PMID:25899569

  12. Cardiac Computed Tomography Angiography for Imaging Coronary Arteriovenous Malformation: a Case Report

    Directory of Open Access Journals (Sweden)

    Zsuzsanna Suciu

    2014-02-01

    Full Text Available Background: Coronary arteriovenous malformation is a rare congenital disease consisting mainly in a direct communication between a coronary artery and any one of the four cardiac chambers, coronary sinus, pulmonary arteries or veins. This disease can lead to various cardiovascular events, their severity depending on the degree of the malformation. Case report: We present the case of a 56-year-old male patient, who was admitted to our institution with dyspnea, palpitation and chest pain, having a history of hypertension and hyperlipidemia, and an abnormal electrocardiogram. Physical examination did not reveal any alterations and the cardiac enzymes were in normal ranges. Cardiac computed tomography was performed before any other invasive studies, with a 64-row scanner (Somatom Sensation multislice 64 equipment, Siemens after intravenous administration of non-ionic contrast material. CT scan revealed a large (2-2.5 mm coronary fistula originating from the LAD to the main pulmonary artery, and multiple significant atherosclerotic coronary lesions. Coronary angiography confirmed the arteriovenous malformation between LAD and pulmonary artery, associated with three vascular coronary artery disease. Conclusions: Cardiac computed tomography angiography can help for a non-invasive diagnosis of the coronary artery malformations, in the same time revealing anatomic details which can be particulary useful for choosing the appropriate management strategy (surgical planning, interventional treatment or optimum medical treatment

  13. The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population

    DEFF Research Database (Denmark)

    Crijns, Hubertina J M J; Jentink, Janneke

    2011-01-01

    To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-? (TNF-?) antagonist and the general population.

  14. Vascular tumors and malformations of the colon

    Directory of Open Access Journals (Sweden)

    Israel Fernandez-Pineda

    2009-11-01

    Full Text Available The term “hemangioma” refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called “cavernous hemangioma”. Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.

  15. GIANT CYSTIC CERVICAL LYMPHATIC MALFORMATION

    Directory of Open Access Journals (Sweden)

    N. Danila

    2006-01-01

    Full Text Available The lymphatic malformations of the neck (LMN are rare diseases, which increase progressively until very large size. The clinical symptoms are pressure signs, due to the compression to the respiratory, digestive and vascular structures of the neck. The authors are presenting the clinical case of a 77 yo male patient with history of simple diffuse goiter. During the evolution, the cervical mass increases progressively its sizes, but in the last 2-3 months before the admission in our clinic the patient describes a rapid and marked growth, with the settle down of the cervical pressure signs. The imagistic evaluation of the cervical mass establishes the diagnosis of cystic cervical tumour that belongs probably to the thyroid gland. The surgical approach succeeds to remove a cystic tumor of 20x15 cm with an irregular round shape. The pathologic histological examination establishes the diagnosis of distended lymphatic channel corresponding to a cystic cervical lymphatic malformation. Postoperative course was uneventful. Conclusions: LMN is a rare disease which can be confound with a goiter. Surgery remains the single effective therapeutic approach.

  16. Cerebellar arteriovenous malformations in children

    International Nuclear Information System (INIS)

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

  17. Genetics of congenital hypothyroidism

    OpenAIRE

    PARK, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  18. Malformaciones invalidantes en Chile.: Estudio ECLAMC, 1982-1997 / Disabling congenital defects in Chile

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Juan, Margozzini R; Mariela, Rodríguez C; Mildred, Rojas N; Lucía, Cifuentes O.

    2001-01-01

    Full Text Available [...] Abstract in english Background: The ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) is an epidemiological surveillance program for congenital defects that operates in Chile since 1969. Aim: To communicate the frequency of disabling congenital defects in Chile in the period 1982-1997. Material [...] and methods: A review of the ECLAMC registry, choosing 12 congenital defects: amelia, limb amputations, limb reductions, arthrogryposis, hip luxation and subluxation, spina bifida, hydrocephaly, microcephaly, cephalocele, talipes equinovarus, Down syndrome and multiple abnormalities. Results: In the study period, 283,403 births occurred and 7,917 newborns were malformed (7,654 born alive and 263 stillbirths). The congenital defects prevalence rates appeared higher in Chile than in other Latin American countries, specially among stillbirths. Among the studied maternity hospitals, the Clinical Hospital of the University of Chile, showed the higher prevalence of congenital defects. Rancagua and the Navy Hospital in Valparaiso have a high frequency of Down syndrome. Global rates in Chile and in the rest of ECLAMC for specific defects, do not have significant differences, except for hip subluxation, that has a lower incidence in Chile. Conclusions: The ECLAMC allows to have a good knowledge of the prevalence of congenital malformations in Latin America (Rev Méd Chile 2001; 129: 67-74).

  19. Malformaciones invalidantes en Chile.: Estudio ECLAMC, 1982-1997 Disabling congenital defects in Chile

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2001-01-01

    Full Text Available Background: The ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas is an epidemiological surveillance program for congenital defects that operates in Chile since 1969. Aim: To communicate the frequency of disabling congenital defects in Chile in the period 1982-1997. Material and methods: A review of the ECLAMC registry, choosing 12 congenital defects: amelia, limb amputations, limb reductions, arthrogryposis, hip luxation and subluxation, spina bifida, hydrocephaly, microcephaly, cephalocele, talipes equinovarus, Down syndrome and multiple abnormalities. Results: In the study period, 283,403 births occurred and 7,917 newborns were malformed (7,654 born alive and 263 stillbirths. The congenital defects prevalence rates appeared higher in Chile than in other Latin American countries, specially among stillbirths. Among the studied maternity hospitals, the Clinical Hospital of the University of Chile, showed the higher prevalence of congenital defects. Rancagua and the Navy Hospital in Valparaiso have a high frequency of Down syndrome. Global rates in Chile and in the rest of ECLAMC for specific defects, do not have significant differences, except for hip subluxation, that has a lower incidence in Chile. Conclusions: The ECLAMC allows to have a good knowledge of the prevalence of congenital malformations in Latin America (Rev Méd Chile 2001; 129: 67-74.

  20. Genetics Home Reference: Congenital hypothyroidism

    Science.gov (United States)

    ... Recent literature OMIM Genetic disorder catalog Conditions > Congenital hypothyroidism On this page: Description Genetic changes Inheritance Diagnosis ... Glossary definitions Reviewed May 2006 What is congenital hypothyroidism? Congenital hypothyroidism is a condition that affects infants ...

  1. Types of Congenital Heart Defects

    Science.gov (United States)

    ... from the NHLBI on Twitter. Types of Congenital Heart Defects With congenital heart defects, some part of the ... how the heart develops. Examples of Simple Congenital Heart Defects Holes in the Heart (Septal Defects) The septum ...

  2. Investigating Classification: Minnesota Vertebrates

    Science.gov (United States)

    This activity is an interactive game that helps students learn that vertebrates are classified into five groups and that each group has common characteristics that distinguish the animal group from other respective groups.

  3. Cisto extradural congênito / Congenital extradural cyst: a case report

    Scientific Electronic Library Online (English)

    Nubor O., Facure; F. J. Monteiro, Salles; José J., Facure; José, Zaclis.

    1970-06-01

    Full Text Available Relato de um caso de cisto extradural congênito operado com sucesso. A importância do estudo radiológico da coluna vertebral é salientada. No caso relatado foi verificado, pelo exame radiológico contrastado, existir uma comunicação entre o cisto e o espaço subaracnóideo. Os autores chamam a atenção [...] para a necessidade da intervenção cirúrgica em tempo hábil para prevenir lesão permanente da medula espinal. Abstract in english A case of congenital extradural cyst successfully operated is reported. The value of the radiographic examinations of vertebral colum is emphazised. Comunication betwen the cyst and subarachnoidal space was detected mielographically. Early diagnosis followed by prompt surgery may prevent permanent s [...] pinal cord damage.

  4. Bibliography of Fossil Vertebrates

    Science.gov (United States)

    1997-01-01

    The Society of Vertebrate Paleontology (SVP), one of most reputable American paleontological societies, sponsors this online edition of its Bibliography of Fossil Vertebrates. The database, which currently covers the years 1509-1958 and 1981-1993 with approximately 112,000 references, is searchable by author, subject, taxon, language, editor, and journal book or volume title. A help page with query instructions for the somewhat finicky search engine is provided.

  5. Vertebral osteomyelitis without disc involvement

    Energy Technology Data Exchange (ETDEWEB)

    Kamani, I.; Syed, I.; Saifuddin, A. E-mail: asaifuddin@aol.com; Green, R.; MacSweeney, F

    2004-10-01

    Vertebral osteomyelitis is most commonly due to pyogenic or granulomatous infection and typically results in the combined involvement of the intervertebral disc and adjacent vertebral bodies. Non-infective causes include the related conditions of chronic recurrent multifocal osteomyelitis (CRMO) and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome. Occasionally, these conditions may present purely within the vertebral body, resulting in various combinations of vertebral marrow oedema and sclerosis, destructive lesions of the vertebral body and pathological vertebral collapse, thus mimicking neoplastic disease. This review illustrates the imaging features of vertebral osteomyelitis without disc involvement, with emphasis on magnetic resonance imaging (MRI) findings.

  6. Ovine and Bovine Congenital Abnormalities Associated With Intrauterine Infection With Schmallenberg Virus.

    Science.gov (United States)

    Peperkamp, N H; Luttikholt, S J; Dijkman, R; Vos, J H; Junker, K; Greijdanus, S; Roumen, M P; Garderen, E van; Meertens, N; Maanen, C van; Lievaart, K; Wuyckhuise, L van; Wouda, W

    2014-11-26

    In December 2011, a previously unknown congenital syndrome of arthrogryposis and hydranencephaly in sheep and cattle appeared in the Netherlands as an emerging epizootic due to Schmallenberg virus (SBV). Gross lesions in 102 lambs and 204 calves included porencephaly, hydranencephaly, cerebellar dysplasia and dysplasia of the brainstem and spinal cord, a flattened skull with brachygnathia inferior, arthrogryposis, and vertebral column malformations. Microscopic lesions in the central nervous system showed rarefaction and cavitation in the white matter, as well as degeneration, necrosis, and loss of neurons in the gray matter. Brain and spinal cord lesions were more severe in lambs than in calves. Ovine and bovine cases examined early in the outbreak showed encephalomyelitis. SBV infection was confirmed by real-time quantitative reverse transcription polymerase chain reaction (RT-qPCR) in brain samples in 46 of 102 lambs (45%) and in 32 of 204 calves (16%). Immunohistochemistry, performed on tissue samples from 18 RT-qPCR-positive lambs, confirmed the presence of bunyaviral antigen in neurons of the brain in 16 cases. SBV antibodies were detected by enzyme-linked immunosorbent assay in fetal blood in 56 of 61 sampled ovine cases (92%). In a virus neutralization test, all tested dams of affected newborns, 46 ewes and 190 cows, were seropositive. Compared with other teratogenic viral infections, the pathogenesis and lesions of SBV in sheep and cattle fetuses are similar to those of other ruminant orthobunyaviruses. However, the loss of spinal ventral motor neurons and their tracts, resulting in micromyelia, distinguishes SBV infection from other viral central nervous system lesions in newborn ruminants. PMID:25428409

  7. Congenital heart disease screening: which referral factors are most important

    International Nuclear Information System (INIS)

    To identify the referral factors for fetal echocardiography which are associated with congenital cardiac defects in the fetus. Study Design: Cross-sectional descriptive study. Place and Duration of Study: Radiology Department, CMH, Rawalpindi, from January 2007 to November 2010. Methodology: All patients referred for fetal echocardiography with one or more risk factors for the development of congenital heart disease, and those patients with incidental discovery of congenital heart disease on antenatal ultrasound were evaluated. Patients with no risk factors who were found to have normal fetal echocardiography were excluded from the study. Univariate logistic regression analysis was carried out for each variable. The variables with statistical significance of less than 0.05 were subjected to multivariate logistic regression. Fetal echocardiographic diagnosis was taken as the dependent variable and all other variables were the independent variables. Results: Two hundred and sixty four patients were evaluated by fetal echocardiography for congenital heart disease. The statistically significant factor was detection of congenital heart disease on routine ultrasound examination. Conclusion: A routine obstetric scan should include evaluation of the heart with four-chamber and base-of-heart views to exclude cardiac anomalies. A cardiac anomaly picked up on routine ultrasound scan is the most important indication for referral for fetal echocardiography. Fetal arrhythmias and echogenic focus in the left ventricle do not have a significant association with structural cardiac malformation. (author)

  8. Developmental lung malformations in children: recent advances in imaging techniques, classification system, and imaging findings.

    Science.gov (United States)

    Thacker, Paul G; Schooler, Gary R; Caplan, Michael J; Lee, Edward Y

    2015-01-01

    Congenital lung anomalies represent a diverse group of developmental malformations of the lung parenchyma, arterial supply, and venous drainage, which may present anywhere from the prenatal period through adulthood. It is imperative for radiologists to be aware of imaging techniques and imaging appearance of these anomalies across the pediatric age range. This review presents the spectrum of these lesions that are often encountered in daily clinical practice. Each anomaly is discussed in terms of underlying etiology, clinical presentation, and imaging characterization with emphasis on the most up-to-date research and treatment. Knowledge of these areas is essential for accurate, timely diagnosis, which aids in optimizing patient outcomes. PMID:25525781

  9. Recurrence of a paediatric arteriovenous malformation 9 years postcomplete excision: case report and review of literature.

    LENUS (Irish Health Repository)

    McCarthy, Claire

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are a common congenital vascular anomaly, which often present in both children and adults. Surgery is considered curative once postoperative angiography confirms the absence of vessels. We describe a 6-year-old girl, who had a Spetzler-Martin Grade II AVM resected successfully, in which a recurrent AVM was detected on routine follow-up over 9 years post excision. The aetiopathogenesis of this rare occurrence with a review of literature is discussed. Long-term postoperative follow-up in the form of MRI\\/MR angiogram is recommended for all fully resected AVMs in the paediatric age group, anticipating the possibility of future recurrence.

  10. Three-dimensional CT reformations in the evaluation of pediatric bone malformations

    International Nuclear Information System (INIS)

    The resolution of three-dimensional (3D) images is limited by the input axial data; the final appearance depends on the 3D reformation algorithm. The author demonstrates two new 3D algorithms that use interpolation in the intersection and intrasection planes, a gradient technique, and CAD/CAM hardware for rapid image reconstruction from image data acquired dynamically as 3-5 mm sections at low radiation doses. Improved 3D images readily reveal the integrity of intersegmental spinal fusions, display the posterior choanae directly, and demonstrate well the bony abnormalities of dysraphism, conjoined twins, foot anomalies, congenital hip dislocation, slipped femoral capital epipysis, femoral anteversion, and other pediatric bone malformations

  11. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  12. Planar Cell Polarity Signaling Pathway in Congenital Heart Diseases

    OpenAIRE

    Gang Wu; Jiao Ge; Xupei Huang; Yimin Hua; Dezhi Mu

    2011-01-01

    Congenital heart disease (CHD) is a common cardiac disorder in humans. Despite many advances in the understanding of CHD and the identification of many associated genes, the fundamental etiology for the majority of cases remains unclear. The planar cell polarity (PCP) signaling pathway, responsible for tissue polarity in Drosophila and gastrulation movements and cardiogenesis in vertebrates, has been shown to play multiple roles during cardiac differentiation and development. The disrupted fu...

  13. Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: A hospital based study

    International Nuclear Information System (INIS)

    The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformations patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. This was a prospective study of the antenatal diagnosis of major fetal congenital anomalies conducted in the ultrasound Department of the Women's Specialized Hospital at King Fahd Medical City from for 7762 patients and 5379 babies delivered in our institution. We diagnosed 217 cases of fetal anomalies. The antenatal prevalence of congenital anomalies was 27.96 per 1000. The median maternal age at diagnosis was 27.5 years. Te median gestational age at diagnosis was 31 weeks. Genitourinary and cranial anomalies were the commonest; for 186 patients delivered in our institution, the birth prevalence was 34.57 per 1000 births. The median gestational age at delivery was 38 weeks. The perinatal mortality arte was 34.9% (65/186), including all cases of intrauterine fetal and neonatal deaths. The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. (author)

  14. MR imaging of symptomatic vascular malformations

    International Nuclear Information System (INIS)

    This paper determines the utility of MR imaging in the evaluation of symptomatic vascular malformations outside the central nervous system. Twenty- three MR examinations were performed in 16 symptomatic vascular malformations (nine hemangiomas, six arteriovenous malformations [AVMs], and one arteriovenous fistula [AVF]). Six lesions were studied both before and after ethanol embolotherapy. MR imaging was effective in differentiating hemangioma from AVM or AVF. The presence of a mass with high T2 and intermediate T1 signal intensity and minimal flow voids suggests a hemangioma. By contrast, prominent vascular flow voids without mass effect suggest an AVM/AVF

  15. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

    Bamforth, J S; Hughes, I; Lazarus, J.; John, R.

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities.

  16. Persistent stapedial artery: a congenital anomaly to know.

    Science.gov (United States)

    Nica, M I; Cosnard, G

    2013-01-01

    Persistent stapedial artery, one of the rare arterial congenital anomalies of the middle ear, is important to know due to its possible clinical repercussions. Ignoring its existence may lead to complications during surgery of the middle ear (notably hemorrhage). Exploration of the vascular malformation is rendered possible via high-definition computed tomography (CT) imaging of the petrous bones, which reveals the frequent bilaterality of this anatomical variation as well as the presence of associated anomalies. We report on two cases of persistent stapedial artery discovered during CT scan explorations. PMID:23610876

  17. Prenatally-detected giant lymphatic malformation

    DEFF Research Database (Denmark)

    Sværdborg, Mille; Keller, Johnny

    2011-01-01

    Abstract We present a case of a giant lymphatic malformation of the chest and abdominal wall that was diagnosed in the third trimester of pregnancy. It was treated by one stage excision with good functional and cosmetic outcomes.

  18. Update on the management of anorectal malformations.

    Science.gov (United States)

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  19. Glomuvenous malformation: magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States)

    2014-07-05

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. (orig.)

  20. Glomuvenous malformation: magnetic resonance imaging findings.

    Science.gov (United States)

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. PMID:24996811

  1. Glomuvenous malformation: magnetic resonance imaging findings

    International Nuclear Information System (INIS)

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. (orig.)

  2. Osteomielitis vertebral piógena Pyogenic vertebral osteomyelitis

    Directory of Open Access Journals (Sweden)

    Pedro P. Perrotti

    2009-10-01

    Full Text Available La osteomielitis vertebral piógena (OVP es una localización poco frecuente (2-7% Se confirma con el aislamiento de un microorganismo de una vértebra, disco intervertebral, absceso epidural o paravertebral. Se describe una serie de casos por la infrecuente presentación de esta enfermedad, que puede ser consulta inicial en los servicios de clínica médica y por su sintomatología inespecífica que supone una dificultad diagnóstica. Tanto la columna lumbar como la dorsal fueron los sitios más afectados. El dolor dorsolumbar y la paraparesia fueron los síntomas más frecuentes de presentación. En ocho pacientes se aislaron Staphylococcus aureus, en uno Escherichia coli y en el restante Haemophylus sp. Se observó leucocitosis sólo en tres pacientes, y en dos velocidad de sedimentación globular mayor de 100 mm/h. Los diez pacientes presentaron imágenes características de osteomielitis vertebral piógena en la resonancia nuclear magnética. Dentro de las complicaciones, los abscesos paravertebrales y epidurales fueron los más frecuentes (en cinco enfermos. Además, un paciente presentó empiema pleural. De los diez pacientes de esta serie, siete recibieron inicialmente tratamiento médico empírico y luego específico para el germen aislado. En los restantes el tratamiento fue guiado de acuerdo al antibiograma. A dos enfermos fue necesario realizarles laminectomía descompresiva por compromiso de partes blandas y a otros dos estabilización quirúrgica por inestabilidad espinal, observándose buena evolución en todos los casos. Esta serie demuestra que, ante un paciente con dolor dorsolumbar y síntomas neurológicos se deberá tener en cuenta esta entidad para evitar un retraso en el tratamiento.Pyogenic osteomyelitis seldom affects the spine (2-7%. It is diagnosed by the isolation of a bacterial agent in the vertebral body, the intervertebral disks or from paravertebral or epidural abscesses. We report a retrospective study of ten patients who attended a medical clinic with this disease to emphasize its unusual presentation and difficult diagnosis. Lumbar and dorsal spine were the most common sites affected. Dorsolumbar pain and paraparesis were the most frequent symptoms. Staphylococcus aureus were isolated in eight patients, Escherichia coli in one and Haemophilus sp. in other Leukocytosis was observed in only three patients. Erythrocyte sedimentation rate was higher than 100 mm in the first hour in two patients. Typical images of pyogenic vertebral osteomyelitis were observed in all these patients with magnetic resonance imaging. The main complications were paravertebral and epidural abscesses that were found in five patients. One patient also presented an empyema, seven of them initially received empiric medical treatment, and later specific antibiotics according to the culture and sensitivity results. The rest of the patients were initially treated according to the sensitivity of the isolated germ. Surgical intervention was performed in two patients to drain soft tissue involvement, and in two other to stabilize the spine. All four surgical patients had a full recovery. This report is intended to point out that in patients with dorsolumbar pain and neurological symptoms pyogenic vertebral osteomyelitis is a possible diagnosis and has to be treated without delay.

  3. Osteomielitis vertebral piógena / Pyogenic vertebral osteomyelitis

    Scientific Electronic Library Online (English)

    Pedro P., Perrotti; José L., Corrales; Bogdan M., Popescu.

    2009-10-01

    Full Text Available La osteomielitis vertebral piógena (OVP) es una localización poco frecuente (2-7%) Se confirma con el aislamiento de un microorganismo de una vértebra, disco intervertebral, absceso epidural o paravertebral. Se describe una serie de casos por la infrecuente presentación de esta enfermedad, que puede [...] ser consulta inicial en los servicios de clínica médica y por su sintomatología inespecífica que supone una dificultad diagnóstica. Tanto la columna lumbar como la dorsal fueron los sitios más afectados. El dolor dorsolumbar y la paraparesia fueron los síntomas más frecuentes de presentación. En ocho pacientes se aislaron Staphylococcus aureus, en uno Escherichia coli y en el restante Haemophylus sp. Se observó leucocitosis sólo en tres pacientes, y en dos velocidad de sedimentación globular mayor de 100 mm/h. Los diez pacientes presentaron imágenes características de osteomielitis vertebral piógena en la resonancia nuclear magnética. Dentro de las complicaciones, los abscesos paravertebrales y epidurales fueron los más frecuentes (en cinco enfermos). Además, un paciente presentó empiema pleural. De los diez pacientes de esta serie, siete recibieron inicialmente tratamiento médico empírico y luego específico para el germen aislado. En los restantes el tratamiento fue guiado de acuerdo al antibiograma. A dos enfermos fue necesario realizarles laminectomía descompresiva por compromiso de partes blandas y a otros dos estabilización quirúrgica por inestabilidad espinal, observándose buena evolución en todos los casos. Esta serie demuestra que, ante un paciente con dolor dorsolumbar y síntomas neurológicos se deberá tener en cuenta esta entidad para evitar un retraso en el tratamiento. Abstract in english Pyogenic osteomyelitis seldom affects the spine (2-7%). It is diagnosed by the isolation of a bacterial agent in the vertebral body, the intervertebral disks or from paravertebral or epidural abscesses. We report a retrospective study of ten patients who attended a medical clinic with this disease t [...] o emphasize its unusual presentation and difficult diagnosis. Lumbar and dorsal spine were the most common sites affected. Dorsolumbar pain and paraparesis were the most frequent symptoms. Staphylococcus aureus were isolated in eight patients, Escherichia coli in one and Haemophilus sp. in other Leukocytosis was observed in only three patients. Erythrocyte sedimentation rate was higher than 100 mm in the first hour in two patients. Typical images of pyogenic vertebral osteomyelitis were observed in all these patients with magnetic resonance imaging. The main complications were paravertebral and epidural abscesses that were found in five patients. One patient also presented an empyema, seven of them initially received empiric medical treatment, and later specific antibiotics according to the culture and sensitivity results. The rest of the patients were initially treated according to the sensitivity of the isolated germ. Surgical intervention was performed in two patients to drain soft tissue involvement, and in two other to stabilize the spine. All four surgical patients had a full recovery. This report is intended to point out that in patients with dorsolumbar pain and neurological symptoms pyogenic vertebral osteomyelitis is a possible diagnosis and has to be treated without delay.

  4. Current Status of Mango Malformation in India

    OpenAIRE

    Dinesh Raj Modi; Ashok Kumar Misra; Pradeep Kumar*1,

    2011-01-01

    Mango (Mangifera indica L.) occupies a pre-eminent place amongst fruit crops in India and is acknowledged as ‘King of fruits’ in the country. Malformation is the most threatening malady that causes great economic loss and limits the mango production in India and among tropical and subtropical countries around the globe. Floral malformation, in contrast to vegetative one, is very virulent and can cause the loss of the entire crop. Affected panicles either do not set fruit or abort fruit sh...

  5. Syringomyelia associated with Chiari malformation in children

    International Nuclear Information System (INIS)

    Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major ci turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

  6. Combined endovascular and surgical treatment in vertebral arteriovenous fistula

    International Nuclear Information System (INIS)

    A 7-year-old girl with a right-sided congenital arteriovenous fistula in the neck was admitted with signs of cardial incompensation. Her fistula was fed from the right vertebral artery in antegrade as well as retrograde directions. A steal from the intracranial arteries was established. In addition, smaller feeding arteries from the neck were found. She was operated on with ligation of the right vertebral artery proximal to the fistula but the attempted ligation of the artery cranially to the fistula was unsuccessful. She was therefore embolized by the formation of a plug of platinum fiber coils in the upper right vertebral artery. Catheterization was performed from the left vertebral artery via the basilar artery. Persisting minor feeders to the fistula from cervical arteries were embolized in a second session. Finally, surgical extirpation of the fistula was performed together with the operative ligation of a crossover feeding artery from the left vertebral artery. Her heart size, heart rate and blood pressure were successively normalized. (orig.)

  7. Giant serpentine vertebrobasilar aneurysm with vertebral artery hypoplasia and fenestration- a case report.

    Science.gov (United States)

    Choudhary, Pradeep; Khokhar, Harsh Vardhan; Saxena, Sangeeta

    2015-03-01

    Intracranial aneurysm in paediatric age group is rare and association of the aneurysm with congenital vertebral artery anomaly is further rarer. We describe such a case in an 11-year-old male patient who consulted a paediatrician about headache and vertigo, and a noncontrast CT (NCCT) head revealed peripherally calcified hyperdense mass in prepontine and basal cisterns. Magnetic resonance imaging (MRI) including contrast enhanced magnetic resonance angiography (MRA) revealed partially thrombosed giant serpentine aneurysm of right vertebrobasilar artery and contralateral hypoplastic vertebral artery with fenestration. The nondominant left vertebral artery gave off the posterior inferior cerebellar artery, then became hypoplastic and joined with its counterpart to form the basilar artery. This pattern is called as type 9. The patient was kept on conservative management. The role of MRI in this congenital anomaly and its association with vertigo and aneurysm of vertebro-basilar artery is discussed. PMID:25954679

  8. Imaging findings in congenital hepatic fibrosis

    International Nuclear Information System (INIS)

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awarenrticle, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

  9. Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.

    Science.gov (United States)

    Encha-Razavi, F; Larroche, J C; Roume, J; Migne, G; Delezoide, A L; Gonzales, M; Mulliez, N

    1992-01-01

    We report on congenital hypothalamic hamartomas, discovered at autopsy in 3 unrelated fetuses. In the first 2 patients, the tumor was associated with skeletal dysplasia only. In the third patient, it was part of a non-random congenital malformation association, suggestive of Meckel syndrome. In one family, a previous boy died soon after birth with similar craniofacial and skeletal abnormalities. As far as we know, the association between isolated skeletal dysplasia and congenital hypothalamic hamartomas has not yet been documented in the literature. Nevertheless, a spectrum of skeletal abnormalities has been described in association with congenital hypothalamic "hamartoblastoma" and a constellation of variable visceral malformations under the eponym of "Pallister-Hall syndrome" (PHS). A detailed analysis of the PHS reported cases shows that only skeletal dysplasia and oro-facial abnormalities are present constantly. They show similarities with those found in our first 2 cases. These findings prompt us to consider skeletal dysplasia and oro-facial abnormalities as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling "congenital hypothalamic hamartoma syndrome" (CHHS). PMID:1308364

  10. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  11. A rare case of congenital heart disease with ambiguous genitalia

    Directory of Open Access Journals (Sweden)

    Lingaiah Kusuma

    2010-01-01

    Full Text Available Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.

  12. A case report of congenital coronary artery fistula to the left ventricle

    International Nuclear Information System (INIS)

    Congenital coronary artery fistula is a rare malformation with an incidence of 0.4% of congenital heart disease. Among the various subtypes, fistula to the left ventricle is extremely rare with 6 reported cases till 1983. We present a case of coronary artery fistula between the right coronary artery and the left ventricle. The dilated right coronary artery formed a mass like bulging the right lower heart border in the plain chest PA, we think this is first case with a coronary artery fistula to the left ventricle, reported in Korea

  13. CONGENITAL ACCESSORY TONGUE: A RARE CASE OF NON SYNDROMIC TONGUE ANOMALY

    Directory of Open Access Journals (Sweden)

    Sudhir M Naik

    2015-01-01

    Full Text Available Background/objectives: Congenital malformations of the tongue are rare and an accessory tongue is extremely uncommon and its incidence is not quoted in literature. Setting: Department of ENT, Head and Neck Surgery, KVG Medical College, Sullia. Case report: Incidental diagnosis of accessory tongue was made in a case of acute tonsillo-pharyngitis while mild symptoms of swallowing discomfort and no speech abnormalities. No other congenital abnormalities were seen in the individual. Intervention: simple surgical excision was made and biopsy revealed the lesion to be of an accessory tongue. Conclusion: Non syndromic tongue anomalies can be treated with simple surgical correction but syndromic tongue anomalies need a multidisciplinary management.

  14. Vertebral-Basilar Insufficiency

    OpenAIRE

    Cape, Ronald D. T.; Hogan, David B.

    1983-01-01

    Vertebral-basilar ischemia can result in giddiness, transient ischemic attacks, and drop attacks. Management involves controlling blood pressure, getting the patient to stop smoking, controlling diabetes and/or hyperlipidemia, and instituting antiplatelet therapy. Several facets of this problem remain unexplained.

  15. Imaging of vertebral trauma

    International Nuclear Information System (INIS)

    This translation of the toolbook published in the 'US-ART' series, offers invaluable help to medical radiologists in the diagnostic imaging and evaluation of complex vertebral traumas which are on the rise, inter alia due to increasingly dangerous leisure sports. (orig./CB)

  16. Radiological evaluation congenital gastrointestinal tract anomalies

    International Nuclear Information System (INIS)

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, penosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric stenosis, delayed gastric emptying, string or double tract sign were the most common findings and catapiller sign, tit sign, shoulder sign or open umbrella sign were noted. e. Barium enema: In congenital megacolon, transitional zone and irregular bizzar contraction, 'chopperwave' were noted. Radiography made 24 hours after barium enema showed retained barium in the colon. f. Selective retrograde fistulogram, distal loopgram and voiding cystogram: In anorectal anomalies, 3 cases showed rectourethral fistula and 2 cases showed rectovaginal fistula and 1 case showed rectovesical fistula. And membranous imperforate anus is in 1 case

  17. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric stenosis, delayed gastric emptying, string or double tract sign were the most common findings and catapiller sign, tit sign, shoulder sign or open umbrella sign were noted. e. Barium enema: In congenital megacolon, transitional zone and irregular bizzar contraction, 'chopperwave' were noted. Radiography made 24 hours after barium enema showed retained barium in the colon. f. Selective retrograde fistulogram, distal loopgram and voiding cystogram: In anorectal anomalies, 3 cases showed rectourethral fistula and 2 cases showed rectovaginal fistula and 1 case showed rectovesical fistula. And membranous imperforate anus is in 1 case.

  18. Congenital Left Ventricular Diverticulum Associated with ASD, VSD, and Epigastric Hernia

    Directory of Open Access Journals (Sweden)

    Seyed Mohammad Dalili

    2008-12-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation. Two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. Apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. Non-apical diverticula are always isolated defects. Diagnosis is established by imaging studies such as echocardiography, magnetic resonance imaging, or left ventricular angiography. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities, and possible complications. We report a 10-month-old girl with left ventricular apical diverticulum, large atrial septal defect, two small muscular ventricular septal defects, and pulmonary hypertension, associated with epigastric hernia. This patient underwent total surgical repair for intra-cardiac defects as well as diverticular resection.

  19. Congenital hydrocephalus in genetically engineered mice.

    Science.gov (United States)

    Vogel, P; Read, R W; Hansen, G M; Payne, B J; Small, D; Sands, A T; Zambrowicz, B P

    2012-01-01

    There is evidence that genetic factors play a role in the complex multifactorial pathogenesis of hydrocephalus. Identification of the genes involved in the development of this neurologic disorder in animal models may elucidate factors responsible for the excessive accumulation of cerebrospinal fluid in hydrocephalic humans. The authors report here a brief summary of findings from 12 lines of genetically engineered mice that presented with autosomal recessive congenital hydrocephalus. This study illustrates the value of knockout mice in identifying genetic factors involved in the development of congenital hydrocephalus. Findings suggest that dysfunctional motile cilia represent the underlying pathogenetic mechanism in 8 of the 12 lines (Ulk4, Nme5, Nme7, Kif27, Stk36, Dpcd, Ak7, and Ak8). The likely underlying cause in the remaining 4 lines (RIKEN 4930444A02, Celsr2, Mboat7, and transgenic FZD3) was not determined, but it is possible that some of these could also have ciliary defects. For example, the cerebellar malformations observed in RIKEN 4930444A02 knockout mice show similarities to a number of developmental disorders, such as Joubert, Meckel-Gruber, and Bardet-Biedl syndromes, which involve mutations in cilia-related genes. Even though the direct relevance of mouse models to hydrocephalus in humans remains uncertain, the high prevalence of familial patterns of inheritance for congenital hydrocephalus in humans suggests that identification of genes responsible for development of hydrocephalus in mice may lead to the identification of homologous modifier genes and susceptibility alleles in humans. Also, characterization of mouse models can enhance understanding of important cell signaling and developmental pathways involved in the pathogenesis of hydrocephalus. PMID:21746835

  20. Quistes pulmonares congénitos / Congenital lung cysts

    Scientific Electronic Library Online (English)

    Nuvia, Suárez García; Sergio Germán, Piloña Ruiz; Omar León, Vara Cuesta; Rita Inés, Milians Casanova; Mirka, Rosa Torres.

    2014-06-01

    Full Text Available Introducción: las malformaciones pulmonares congénitas constituyen una alteración en el desarrollo embriológico y fetal de las distintas estructuras pulmonares y una rara expresión de estas son los quistes pulmonares congénitos. Caso clínico: se presenta un recién nacido a término, de buen peso, asi [...] ntomático y estable hasta el tercer día de vida al debutar con un estado de shock séptico secundario, de bronconeumonía complicada con derrame pleural derecho. En los estudios evolutivos hacia el cuarto de día de vida se le diagnostica como hallazgo radiológico la presencia de quistes pulmonares que evolucionan de forma asintomática. Después de una valoración multidisciplinaria es egresado con un seguimiento por su condición de alto riesgo. Actualmente saludable y con buen desarrollo psicomotor. Conclusiones: la importancia del tema que se presenta es que se describe una presentación rara de quistes pulmonares congénitos en un recién nacido que desarrolló un estadio avanzado de sepsis. Abstract in english Introduction: congenital lung malformations constitute an alteration in the embryonic and fetal development of the different lung structures and a rare expression of these congenital lung cysts. Case report: termed newborn, good weight, evolving asymptomatic and stable until the third day of life to [...] debut a state of septic shock secondary to complicated bronchopneumonia with right pleural effusion. In evolutionary studies by the fourth day of life it is diagnosed, as radiological finding, the presence of lung cysts evolving asymptomatically. After a multidisciplinary assessment there is a graduate tracking of their status, with high risk. Currently healthy and good psychomotor development. Conclusions: the importance of the issue presented is a rare presentation of congenital lung cysts in a newborn who developed an advanced stage of sepsis described.

  1. Congenital Hypomyelinating Neuropathy (CHN)

    Science.gov (United States)

    ... About Muscle Diseases Help Through Services Hope Through Research Ways to Help MDA Partners in Progress Search form Search Charcot-Marie-Tooth Disease (CMT) Congenital Hypomyelinating Neuropathy (CHN) What is ...

  2. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  3. Congenital hypomyelinating neuropathy.

    OpenAIRE

    Harati, Y; Butler, I J

    1985-01-01

    Two patients with congenital hypomyelinating neuropathy are reported with details of sural nerve pathology. The resemblance of this condition to the hypomyelinating neuropathy of Trembler mice is discussed and the pertinent medical literature reviewed.

  4. Method radiodiagnosis of vertebral diseases

    International Nuclear Information System (INIS)

    The method of radiodiagnosis by roentgenography in peripheral projection in the position of bending, unbending and measuring angle values formed by closing vertebral plates is suggested to determine functional capabilities of intervertebral disks. The method suggested allows to increase the accuracy of diagnosis of vertebral pathology, as well as to receive information about functional capability of the vertebral column

  5. Radiological evaluation of the cranio vertebral junction

    International Nuclear Information System (INIS)

    The cranio vertebral junction (CVJ) comprises the occiput, atlas, their joints and ligaments. Besides conventional x-rays other imaging methods are need for the assessment of CVJ including high resolution computerized tomography (CT) and magnetic resonance imaging (MRI) which provide specific parameters such as field of view, slice thickness and incremental movement of the patient. A dynamic study is also important to assess the stability of the cranio vertebral junction and the effect upon the bulbomedullary junction. The aim of this study is to review the techniques used in the evaluation of the CVJ, the semiological parameters, and the most frequent disorders affecting this region. We review the literature and present conventional x-ray, CT and MRI images from the didactic file of the Radiology service 'Med Imagem - Beneficiencia Portuguesa de Sao Paulo, SP, Brazil, of cases with normal anatomy and the main congenital and acquired disorders of the CVJ. In daily practice, CVJ disorders are diagnoses using CT and MRI scans of the head and cervical spine. It is essential to be familiar with these conditions in order to preform specific tests which will allow a detailed study of the CVJ, thus providing the basis for the treatment, whenever indicated. (author)

  6. Use of inhaled and oral corticosteroids in pregnancy and the risk of malformations or miscarriage.

    Science.gov (United States)

    Bjørn, Anne-Mette Bay; Ehrenstein, Vera; Nohr, Ellen Aagaard; Nørgaard, Mette

    2015-04-01

    Corticosteroids are potent anti-inflammatory and immunosuppressive drugs, which sometimes must be given to pregnant women. Corticosteroids have been suspected to be teratogenic for many years; however, there is conflicting evidence regarding the association. Based on a literature review of three databases, this MiniReview provides an overview of inhaled and oral corticosteroid use in pregnancy with specific emphasis on the association between use of corticosteroids during pregnancy and risk of miscarriage and congenital malformations in offspring. The use of corticosteroids among pregnant women ranged from 0.2% to 10% and increased nearly two times in recent years. Taken together, the evidence suggests that the use of corticosteroids in early pregnancy is not associated with an increased risk of congenital malformations overall or oral clefts in offspring; at the same time, published estimates are inconsistent. The use of inhaled corticosteroids was associated with a slightly increased risk of miscarriage, whereas the use of oral corticosteroids was not; however, confounding by indication could not be ruled out. PMID:25515299

  7. Pregestational diabetes induces fetal coronary artery malformation via reactive oxygen species signaling.

    Science.gov (United States)

    Moazzen, Hoda; Lu, Xiangru; Liu, Murong; Feng, Qingping

    2015-04-01

    Hypoplastic coronary artery disease is a congenital coronary artery malformation associated with a high risk of sudden cardiac death. However, the etiology and pathogenesis of hypoplastic coronary artery disease remain undefined. Pregestational diabetes increases reactive oxygen species (ROS) levels and the risk of congenital heart defects. We show that pregestational diabetes in mice induced by streptozotocin significantly increased 4-hydroxynonenal production and decreased coronary artery volume in fetal hearts. Pregestational diabetes also impaired epicardial epithelial-to-mesenchymal transition (EMT) as shown by analyses of the epicardium, epicardial-derived cells, and fate mapping. Additionally, the expression of hypoxia-inducible factor 1? (Hif-1?), Snail1, Slug, basic fibroblast growth factor (bFgf), and retinaldehyde dehydrogenase (Aldh1a2) was decreased and E-cadherin expression was increased in the hearts of fetuses of diabetic mothers. Of note, these abnormalities were all rescued by treatment with N-acetylcysteine (NAC) in diabetic females during gestation. Ex vivo analysis showed that high glucose levels inhibited epicardial EMT, which was reversed by NAC treatment. We conclude that pregestational diabetes in mice can cause coronary artery malformation through ROS signaling. This study may provide a rationale for further clinical studies to investigate whether pregestational diabetes could cause hypoplastic coronary artery disease in humans. PMID:25422104

  8. Use of Inhaled and Oral Corticosteroids in Pregnancy and the Risk of Malformations or Miscarriage

    DEFF Research Database (Denmark)

    BjØrn, Anne-Mette Bay; Ehrenstein, Vera

    2015-01-01

    Corticosteroids are potent anti-inflammatory and immunosuppressive drugs, which sometimes must be given to pregnant women. Corticosteroids have been suspected to be teratogenic for many years; however, there is conflicting evidence regarding the association. Based on a literature review of three databases, this MiniReview provides an overview of inhaled and oral corticosteroid use in pregnancy with specific emphasis on the association between use of corticosteroids during pregnancy and risk of miscarriage and congenital malformations in offspring. Use of corticosteroids among pregnant women ranged from 0.2% to 10% and increased nearly two-fold in recent years. Taken together, the evidence suggests that use of corticosteroids in early pregnancy is not associated with an increased risk of congenital malformations overall or oral clefts in offspring; at the same time, published estimates are inconsistent. Use of inhaled corticosteroids was associated with a slightly increased the risk of miscarriage, whereas useof oral corticosteroids was not; however, confounding by indication could not be ruled out. This article is protected by copyright. All rights reserved.

  9. Screening for congenital hypothyroidism.

    OpenAIRE

    Gerard Henry; Sobki, Samia H.; Johara M. Othman

    1980-01-01

    OBJECTIVES To review the screening program for congenital hypothyroidism in the Riyadh Al-Kharj Hospital Programme, Riyadh, Kingdom of Saudi Arabia, and to investigate the clinical and biochemical characteristics of affected infants. METHODS The study was carried out from 1985 to 2000 in the Clinical Chemistry Division, Department of Pathology, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia. Laboratory data and case notes of infants diagnosed with congenital hypothyroidism wer...

  10. Isolated congenital bifid tongue

    OpenAIRE

    Surej, Kumar L. K.; Kurien, Nikhil M.; Sivan, Madhu P.

    2010-01-01

    Human growth and development is a meticulously planned and precisely executed process. Even a mild disturbance can have clinically significant manifestations later on. Even today, ancient beliefs and practices override/delay patient's aspiration for seeking treatment as seen in the case report presented here. Congenital bifid tongue in association with various other orofacial abnormalities has been reported, many of which have been linked to various syndromes. But congenital bifid tongue occu...

  11. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    Goknur Haliloglu; Haluk Topaloglu

    2011-01-01

    ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure...

  12. Brain MRI findings in infants with primary congenital glaucoma

    International Nuclear Information System (INIS)

    Congenital glaucoma appears in the first months of life, eventually at birth. Isolated congenital glaucoma is characterized by minor malformations of the irido-corneal angle of the anterior chamber of the eye. Clinical manifestations include tearing, photophobia and enlargement of the globe appearing in the first months of life. Imaging technology such as optical coherence tomography and measurement of central corneal thickness may play an important role in the assessment of children with suspected or known glaucoma. However, no MRI findings of the CNS in patients with primary congenital glaucoma (PCG) were reported in the literature. The purpose of this study was to investigate MRI findings of the brain in infants with PCG. We reviewed the radiological and histopathological and clinical characteristics of infants with primary congenital glaucoma. The records of 17 patients with PCG were reviewed and the MRIs of the brain and associated manifestations were analyzed. Three patients with PCG had abnormal MRI findings suggesting agenesis of the corpus callosum. Two infants had delayed myelinization of the brain. Significant abnormal optic nerve excavation and increased corneal diameters in 2 patients with delayed myelinization may suggest that intraocular pressure can be more striking and more severe, revealing a close relationship with PCG and abnormal myelinization in white matter. Studies with more patients are needed to confirm these results. (author)rm these results. (author)

  13. Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Tog?nel Rodica

    2013-04-01

    Full Text Available Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.

  14. Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    OpenAIRE

    2010-01-01

    Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17?-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency. Objective: The aim o...

  15. Heparan sulfate deficiency disrupts developmental angiogenesis and causes congenital diaphragmatic hernia

    OpenAIRE

    Zhang, Bing; Xiao, Wenyuan; QIU, HONG; Zhang, Fuming; Moniz, Heather A.; Jaworski, Alexander; Condac, Eduard; Gutierrez-Sanchez, Gerardo; Heiss, Christian; Robin D. Clugston; Azadi, Parastoo; Greer, John J; Bergmann, Carl; Moremen, Kelley W.; Li, Dean

    2013-01-01

    Congenital diaphragmatic hernia (CDH) is a common birth malformation with a heterogeneous etiology. In this study, we report that ablation of the heparan sulfate biosynthetic enzyme NDST1 in murine endothelium (Ndst1ECKO mice) disrupted vascular development in the diaphragm, which led to hypoxia as well as subsequent diaphragm hypoplasia and CDH. Intriguingly, the phenotypes displayed in Ndst1ECKO mice resembled the developmental defects observed in slit homolog 3 (Slit3) knockout mice. Furth...

  16. The contribution of magnetic resonance in the congenital anomalies of the thoracic veins

    International Nuclear Information System (INIS)

    Congenital anomalies of the thoracic veins, although uncommon, can be of the utmost clinical and surgical significance. These venous anomalies may be subdivided into systemic and pulmonary. Most systemic venous abnormalities are incidental findings, whereas pulmonary vein malformations coexist with coronary heart disease, especially atrial septal defect. Although cardiac ultrasonography remains the initial noninvasive imaging modality, magnetic resonance imaging with ultrafast sequences is of great diagnostic value because multiplanar 3-dimensional reconstructions may be made. (author)

  17. Motor development in children with congenital cardiac diseases compared to their healthy peers.

    Science.gov (United States)

    Bjarnason-Wehrens, Birna; Dordel, Sigrid; Schickendantz, Sabine; Krumm, Constanze; Bott, Daniel; Sreeram, Narayanswami; Brockmeier, Konrad

    2007-10-01

    Their perceptual and motor experiences determine the physical and motor development of children, and impact also on their emotional, psychosocial, and cognitive development. Our aim, therefore, was to evaluate motor development in children with congenitally malformed hearts compared to their healthy peers. We compared 194 children, with a mean age of 10.0 years, and standard deviation of 2.7 years, representing the entire spectrum of congenital cardiac disease, to a control group of 455 healthy children, having a mean age 9.6 years, with standard deviation of 2.17 years. The bodily coordination test for children was used to examine motor development. Of the children with congenitally malformed hearts, 26.8% showed moderate, and 31.9% had severe disturbances of motor development, compared to 16.5% and 5.5% of the control group, the p-value for these differences being less than 0.001. The mean motor quotient adjusted for age and gender was lower in the children with congenitally malformed hearts than in their healthy peers, at 79.6, with standard deviation of 18.9 as opposed to 96.6, with standard deviation of 15, this difference having a p-value of less than 0.001. Depending on the presence, and/or the degree, of residual sequels, the children with congenitally malformed hearts were divided into two subgroups, with either no or mild residual sequels, or with significant sequels. The mean motor quotient was lower in those with significant residual sequels, at 75, with standard deviation of 19.3, as opposed to 83, with standard deviation of 17.9, the p-value for this difference being less than 0.01. In both subgroups, the mean motor quotient was lower, with a p-value of less than 0.01, than in the control group. Our findings show that children with congenitally malformed hearts have deficits in their motor development, these being found in the presence of no or mild sequels, as well as with significant residual sequels. Parental overprotection may contribute to these findings. PMID:17666153

  18. Autopsy features in a newborn baby affected by a central congenital diaphragmatic hernia.

    Science.gov (United States)

    Bolino, Giorgio; Gitto, Lorenzo; Serinelli, Serenella; Maiese, Aniello

    2015-03-01

    Congenital diaphragmatic hernia is a congenital malformation of the diaphragm, resulting in the herniation of the abdominal organs into the thoracic cavity. The most common types of congenital diaphragmatic hernia are Bochdalek hernia (postero-lateral hernia), Morgagni hernia (anterior defect), and diaphragm eventration (abnormal displacement of part or all of an otherwise intact diaphragm into the chest cavity). Congenital diaphragmatic hernia is a life-threatening pathology in infants, and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension. We present a fatal case of congenital diaphragmatic hernia in a newborn. At the autopsy, a central defect of the diaphragm was found, 8?×?5?cm in size, that led to a herniation of the small intestine, the right lobe of the liver, and the right adrenal gland into the thorax. An esophageal atresia was associated with the congenital diaphragmatic hernia. The lungs showed severe hypoplasia and atelectasia. Physicians should pay attention to a prenatal diagnosis of congenital diaphragmatic hernia in order to prevent newborn fatalities. PMID:25573226

  19. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

    Science.gov (United States)

    McDonell, Laura M; Mirzaa, Ghayda M; Alcantara, Diana; Schwartzentruber, Jeremy; Carter, Melissa T; Lee, Leo J; Clericuzio, Carol L; Graham, John M; Morris-Rosendahl, Deborah J; Polster, Tilman; Acsadi, Gyula; Townshend, Sharron; Williams, Simon; Halbert, Anne; Isidor, Bertrand; David, Albert; Smyser, Christopher D; Paciorkowski, Alex R; Willing, Marcia; Woulfe, John; Das, Soma; Beaulieu, Chandree L; Marcadier, Janet; Geraghty, Michael T; Frey, Brendan J; Majewski, Jacek; Bulman, Dennis E; Dobyns, William B; O'Driscoll, Mark; Boycott, Kym M

    2013-05-01

    Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting. Patient cell lines showed reduced STAMBP expression associated with accumulation of ubiquitin-conjugated protein aggregates, elevated apoptosis and insensitive activation of the RAS-MAPK and PI3K-AKT-mTOR pathways. The latter cellular phenotype is notable considering the established connection between these pathways and their association with vascular and capillary malformations. Furthermore, our findings of a congenital human disorder caused by a defective DUB protein that functions in endocytosis implicates ubiquitin-conjugate aggregation and elevated apoptosis as factors potentially influencing the progressive neuronal loss underlying MIC-CAP syndrome. PMID:23542699

  20. Anquilobléfaron filiforme adherente y otras malformaciones / Ankyloblepharon filiforme adnatum and other malformations

    Scientific Electronic Library Online (English)

    Josefa, Rodríguez Vargas; Maritza, Camejo Medina.

    2003-06-01

    Full Text Available Se realizó un examen físico a un recién nacido con malformaciones presentadas en el momento del parto, de un embarazo valioso de la raza negra, presentó los párpados superior e inferior de ambos ojos unidos por finas bandas en número variable que impedían la separación y los movimientos normales. Ad [...] emás asociado a labio leporino y hendidura palatina. Luego de descartar otras malformaciones congénitas, fue intervenido para reparar la malformación. Su estado actual es normal, después de la recanalización de sus otras anomalías. Abstract in english A physical examination was made to a newborn of the black race with malformations at the time of delivery. His upper and lower eyelids were united by a variable number of fine bands that impeded the separation and the normal movements. It was also associated with cleft lip and palate. After discardi [...] ng other congenital malformations, he was operated on to repair the malformation. His present state is normal after the recanalization of his other abnormalities.

  1. Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects

    OpenAIRE

    Al Kaissi, Ali; Chehida, Farid Ben; Gharbi, Hassan; Ghachem, Maher Ben; Grill, Franz; Varga, Franz; Klaushofer, Klaus

    2007-01-01

    Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3–4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down’s syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio’s syndrome [Baraitser a...

  2. A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs.

    OpenAIRE

    Patterson, D. F.; Pexieder, T.; Schnarr, W. R.; Navratil, T.; Alaili, R.

    1993-01-01

    The common forms of isolated congenital heart disease are usually not inherited in a Mendelian pattern, and most are considered multifactorial threshold traits. A large subset consisting of a group of malformations of the ventricular outflow region, termed "conotruncal defects" (CTDs), include subarterial ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus. Similar aggregations of CTDs have been reported in human families and in the keeshond breed of dog. The re...

  3. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... and any related health problems. How a Healthy Heart Works To understand more about congenital heart defects, ... affect its ability to function properly. Continue Common Heart Defects Common types of congenital heart defects, which ...

  4. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... page It's been added to your dashboard . Congenital heart defects and CCHD Congenital means present at birth. ... babies and children with heart problems. How can heart defects affect your baby? Heart defects can affect ...

  5. Impact of Congenital Heart Defects

    Science.gov (United States)

    ... other learning difficulties. What is the social/financial impact of congenital heart defects? Successful treatment requires highly ... resources to achieve optimum functioning. What is the impact of congenital heart disease on families?

  6. Surgical excision of a cerebral arteriovenous malformation in a dog

    International Nuclear Information System (INIS)

    A 7-year-old dog was presented with seizures and epistaxis. Computed tomography showed a contrast-enhancing lesion in the cerebrum. An arteriovenous malformation was identified at surgery and resected. A discussion of intracranial arteriovenous malformation is presented

  7. Spontaneous thrombosis of a cerebral arteriovenous malformation

    International Nuclear Information System (INIS)

    Complete disappearance of a cerebral arteriovenous malformation (AVM), 9 years after its discovery, is reported in a 45-year-old-man. This unusual evolution was revealed by the onset of 3 seizures. CT scan and MR imaging eliminated any hemorrhage and carotid angiography showed the spontaneous thrombosis of the whole malformation. The evolution of the MRI signals demonstrates that seizures and the disappearance of the AVM were concomitant. It is suggested that the spontaneous thrombosis of the venous drainage caused the AVM disappearance with cerebral oedema responsible of seizures. (author)

  8. Retroperitoneal vascular malformation mimicking incarcerated inguinal hernia

    Directory of Open Access Journals (Sweden)

    Dubey Indu

    2011-01-01

    Full Text Available A 30-year-old man presented to the Department of Surgery with a painful groin swelling on right side. Exploration revealed a reddish-blue hemangiomatous mass in the scrotum extending through inguinal canal into the retroperitoneum. On further dissection swelling was found to be originating from right external iliac vein. The swelling was excised after ligating all vascular connections. The histopathological examination of excised mass confirmed the diagnosis of venous variety of vascular malformation. This is the first reported case of vascular malformation arising from retroperitoneum and extending into inguinoscrotal region, presenting as incarcerated inguinal hernia.

  9. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  10. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    International Nuclear Information System (INIS)

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  11. Management strategy for facial arteriovenous malformations

    Directory of Open Access Journals (Sweden)

    Bhandari P

    2008-01-01

    Full Text Available Arteriovenous malformations (AVMs are uncommon errors of vascular morphogenesis; haemodynamically, they are high-flow lesions. Approximately 50% of AVMs are located in the craniofacial region. Subtotal excision or proximal ligation of the feeding vessel frequently results in rapid progression of the AVMs. Hence, the correct treatment consists of highly selective embolisation (super-selective followed by complete resection 24-48 hours later. We treated 20 patients with facial arteriovenous malformation by using this method. Most of the lesions (80% were located within the cheek and lip. There were no procedure related complications and cosmetic results were excellent.

  12. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses.

  13. Congenital syphilis in the newborn.

    OpenAIRE

    Chawla, V.; Pandit, P. B.; Nkrumah, F. K.

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  14. Pattern of Congenital Anomalies in Newborn :A Hospital Based Prospective Study

    Directory of Open Access Journals (Sweden)

    Arjun Singh, Ravinder K Gupta

    2009-01-01

    Full Text Available This hospital based prospective descriptive study highlights the point prevlance of congenital anomalies inone year. The number of congenital anomalies were more in males (M: F = 1.6:1.4, in neonates of young(= 20 years and elderly mothers (= 35 years. The pattern of congenital anomalies included musculoskeletal(30.6%, CNS (20.5%, GIT (18.5%, skin (7.6%, genitourinary (4.7%, CVS (4% etc. In musculoskeletalgroup, telipes was most common malformation followed by spinabifida and polydactyly. In CNS, groupmeningomyeleceole was the most common malformation followed by anencephaly and hydrocephalus.Frequency of congenital anomalies were more common in muslims as compared to hindus (1.77% vs.1.4%, in cesarean born babies as compared to vaginally delivered (1.96% vs. 1.48%, in LBW babies(4.95% and still born as compared to live born babies (4.46% vs. 1.39%. Present study stress upon theimportance to carrying out a thorough clinical examination of neonate at birth

  15. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  16. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  17. Isolated Congenital Heart Block

    OpenAIRE

    Tunaoglu, F. Sedef; Yildirim, Ayse; Vurali, Dogus

    2010-01-01

    Isolated congenital heart block, frequently seen in mothers who have connective-tissue disease, can be transmitted to the fetus through transplacental passage of anti-Ro/SSA and anti-La/SSB autoantibodies. Even if the antibodies appear transiently in the fetal circulation, the block is permanent and can require pacemaker implantation. Complete congenital heart block is seen in 1% to 5% of neonates born to mothers who carry these autoantibodies. Herein, we report the case of a baby—born to a...

  18. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  19. Defectos congénitos mayores en nacidos vivos / Major congenital defects in live births

    Scientific Electronic Library Online (English)

    Juana María, Alum Bárcenas; Ener de Jesús, Fernández Brizuela; Marlenis, Moreno Madrigal; Elda, Ledesma León.

    2015-04-01

    Full Text Available Fundamento: los defectos congénitos mayores tienen un compromiso funcional importante para la vida del individuo, tienen una frecuencia del 2 al 3 % de los recién nacidos. Los avances de Cuba en el programa de reducción de la mortalidad infantil se deben entre otras causas al diseño de estrategias q [...] ue han contribuido a la disminución de la morbimortalidad por malformaciones congénitas. Objetivo: caracterizar el comportamiento de los defectos congénitos mayores en el municipio Carlos Manuel de Céspedes desde el 2002 hasta el 2013. Métodos: se realizó un estudio observacional descriptivo transversal de serie de casos. El universo estuvo constituido por los 67 niños nacidos vivos con diagnóstico de defectos congénitos mayores. Los datos se recogieron en una base de datos para lo que se utilizó el modelo del registro cubano de malformaciones congénitas, además se realizó la revisión de las historias clínicas individuales y familiares en los consultorios del médico de la familia. Resultados: predominaron los defectos congénitos mayores en los años 2006, 2009 y 2011 y la mayor frecuencia se produjo en los meses de febrero, agosto, septiembre y octubre. Los más frecuentemente observados correspondieron a los sistemas cardiovascular, renal y osteomioarticular. Las malformaciones y los síndromes fueron los defectos más observados desde el punto de vista etiopatogénico. La mayoría de los nacimientos no presentaron factores de riesgo. Conclusiones: en el municipio Céspedes los defectos congénitos mayores son frecuentes y contribuyen a la mortalidad infantil. Abstract in english Background: major congenital defects cause important functional problems for the life of the patient; these defects have a frequency of 2 to 3 % in newborns. Advantages in the infant mortality reduction program in Cuba are due, among other reasons, to the design of strategies that have contributed t [...] o the decrease of morbidity and mortality caused by congenital malformations. Objective: to characterize the behavior of major congenital defects in Carlos Manuel de Céspedes municipality, from 2002 to 2013. Methods: a descriptive, cross sectional, case-series study was conducted. The universe was composed of the 67 live births with diagnosis of major congenital defects. The data were collected in a data base. The Cuban register model of congenital malformations was used for this; besides, a review of medical histories of patients and of family histories was also made in family physician offices. Results: major congenital defects predominated in 2006, 2009 and 2011 and were more frequent in February, September and October. The most frequent congenital defects were related to the cardiovascular, renal and osteomioarticular systems. Malformations and syndromes were the most observed from the etiopathogenical point of view. Most of the births did not presented risks. Conclusions: in Céspedes municipality major congenital defects are frequent and contribute to cause infant mortality.

  20. Ultrasonographic views for the screening of congenital heart defects in the first level of care

    International Nuclear Information System (INIS)

    Congenital heart diseases are the main cause of infant mortality for congenital malformations in our country and they are the defects that more usually escape diagnosis in ultrasonographic screening, especially if we consider that associated risk factors call for a fetal echocardiogram are not identified in most pregnant women with fetuses affected with a heart disease. With this paper, we intend to bring within reach of both the specialists dedicated to this activity in primary care and the Masters in Genetic Counseling a review article about the principal aspects to be evaluated in each of the three echocardiography views that are used in Cuba as part of screening these defects, as well as the main signs of suspicion of congenital heart diseases that give reason for having a pregnant woman referred to the immediately higher level of care

  1. Magnetic resonance imaging of congenital heart disease at 0.3 T

    International Nuclear Information System (INIS)

    The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs

  2. Magnetic resonance imaging of congenital heart disease at 0.3 T

    Energy Technology Data Exchange (ETDEWEB)

    Malmgren, N.

    1995-11-01

    The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field m