Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly di...

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.)

Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening. PMID:22325458

The wolf (Canis lupus) population on Isle Royale, a remote island in Lake Superior, North America, is extremely inbred. Nevertheless, the consequences of genetic deterioration have not been detected for this intensively studied population, until now. We found that 58% (n=36) of Isle Royale wolves exhibited some kind of congenital malformation in the lumbosacral region of the vertebral column and 33% exhibited a specific malformity, lumbosacral transitional vertebrae. By contrast, only 1% (1 of 99) of wolves sampled from two outbred, wolf populations exhibited this malformity. Moreover, in domestic dogs (Canis lupus familiaris) lumbosacral transitional vertebrae are associated with cauda equina syndrome, which can cause paresis, paralysis, locomotor difficulties in the rear legs and tail, a...

Introduction Cutaneous hemangioma and vascular malformation are two vascular abnormalities frequently associated with absence or hypoplasia of one or both carotid and/or vertebral arteries, presence of persistent embryonic arteries, especially the trigeminal, cerebellar malformations, and coarctation of the aortic arch and/or congenital cardiopathy. This disease is known as Pascual-Castroviejo type II syndrome (P-CIIS) and by the acronym PHACE. Material and methods Three patients (two females and one male) with facial hemangioma are studied during the first years of age by magnetic resonance angiography (MRA) and their vascular evolution to adult age followed through several MRA controls. Results All the three patients showed persistence of the trigeminal artery associated to other intra- ...

Introduction Split cord malformation (SCM) is rare congenital disorder of spine in which bony, fibrous, or cartilaginous septum subdivides partially or completely the vertebral canal. SCM can be associated with other spinal abnormalities such as spina bifida, Arnold?Chiari malformation, hemivertebra, butterfly vertebra, or kyphoscoliosis and also can be seen as part of Jarcho?Levin syndrome. Prenatal diagnosis of SCM is possible by ultrasonography (US). Fetal magnetic resonance imaging (MRI) and amniotic fluid acetylcholine esterase (AF-AChE) levels can be helpful to rule out additional anomalies. We present a case of fetal SCM diagnosed by US and fetal MRI. Case An 18-year-old woman with no obstetrics risk factor was referred for routine US screening. At sagittal section, fetal spine was ...

The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, and cleft lip/palate. These phenotypic features are a result ...

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.

Abstract in portuguese Este trabalho teve como objetivo o estudo laboratorial e por imagem das malformações de um bebê do sexo masculino que apresentou, por ocasião do parto, prematuridade, cardiopatia congênita, insuficiência respiratória e malformação congênita. O estudo ecográfico gestacional mostrou o osso nasal hipoplásico e a coluna vertebral com pequeno desvio na transição entre a coluna cervical e a torácica. No coração foi constatada a presença de Golf-Ball em ventrí (more) culo esquerdo e no trato genitourinário, pielectasia renal bilateral. Os estudos citogenéticos diagnosticaram deleção intersticial do cromossomo 9 do segmento q22q32 no braço longo, onde se estabeleceu o cariótipo 46,XY,del(9)(q22q32). Abstract in english This study aimed at the laboratory and imaging investigation of malformations in a male baby that presented prematurity, congenital cardiopathy, respiratory failure and congenital malformation at the time of delivery. The gestational ultrasonography showed a hypoplastic nasal bone and a minor spinal deviation at the transition between the cervical and thoracic spine. There was Golf-Ball in the left ventricle and, in the genitourinary tract, bilateral renal pyeloectasis wa (more) s observed. Cytogenetic studies revealed interstitial deletion of chromosome 9 from the segment q22q32 in the long arm, where the karyotype 46, XY, del (9) (q22q32) was identified.

Klippel-Feil syndrome is an uncommon congenital anomaly that is characterized by abnormal fusion of the cervical vertebrae and occasionally accompanied by various anomalies of other bones and internal organs. We report the autopsy case of a 5-year-old girl with this syndrome ssociated with congenital cervical dislocation, with special reference to the pathological findings of the vertebral column and spinal cord. Principal anomalies of the cranio-spinal axis were as follows: partial defect of the clivus, scoliosis, hypoplasia of the whole cervical vertebrae, anterior dislocation of C7 with S-shaped deformity of the spinal canal, fusion of the spinous processes of the cervical and thoracic vertebrae, fusion of the vertebral bodies of C6 and C7 with collapse of C7, and spina bifida occulta of L5 and S1. In addition to these skeletal anomalies, subarachnoid vascular malformation in the medulla oblongata, a bronchogenic cyst in the posterior mediastinum, anomalous lobation of the lungs, and the mobile cecum were found at autopsy. The cervical cord showed an increase of the antero-posterior diameter, multifocal spongy changes of the white matter, and partial branching or duplication of the central canal. The brain showed features of anoxic encephalopathy. The partial defect of the clivus, C7 dislocation, and various lesions of the medulla oblongata and cervical cord were interpreted as integral components of, or lesions closely associated with, Klippel-Feil syndrome. PMID:22762890

To confirm the utility of CT scan images for orthopedic surgeons managing patients with complex disorders, we have produced and studied three-dimensional images from helical CT scans of 28 patients with various bone and joint disorders in the trunk and the hip joint. The CT scanner employed was a Toshiba X-force, and the 3D-CT images were constructed on an X-link50. The 3D images obtained could be observed from various projections. Congenital vertebral malformations, spondylosis, OPLL, osteonecrosis, fractures, and bone tumors were examined, and the 3D helical CT images brought useful information to bear on the spatial location and extent of the lesions. Therefore, 3D helical CT should become an indispensable tool for both preoperative examination and post-operative follow-up studies in orthopedic surgery. (author)

Intraspinal endodermal cysts are very rare congenital cysts, usually composed of a thin-walled cyst the lining of which mimics gastrointestinal or respiratory epithelium. Diagnosis is usually established during the first or second decade of life. These cysts are frequently associated with vertebral or spinal cord abnormalies and dual malformation with mediastinal or abdominal cysts. Collectively, they are called split notochord syndrome. The authors describe their experience in the treatment of a 57-year-old man having an endodermal cyst mimicking an intramedullary tumor at the level of Th1-2. He was admitted to our institution for evaluation of an intraspinal mass diagnosed by MRI at a local hospital after experiencing temporary numbness and weakness of the lower left extremity. T1-weight...

Fanconi's anaemia is a severe refractory anaemia, associated with congenital malformations in approximately two-thirds of cases. Although these malformations may involve every organ system, suggestive dysmorphic features include growth retardation, radial ray deformities and urinary malformations. These malformations are not specific for Fanconi's anaemia, but should be recognized during pregnancy, or later in childhood, and suggest the possibility of inherited haematopoiesis disorders. De Kerviler, E. (2000)

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 co (more) mpared 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).

Summary Background Prenatal exposure to antiepileptic drugs is associated with a greater risk of major congenital malformations, but there is inadequate information on the comparative teratogenicity of individual antiepileptic drugs and the association with dose. We aimed to establish the risks of major congenital malformations after monotherapy exposure to four major antiepileptic drugs at different doses. Methods The EURAP epilepsy and pregnancy registry is an observational cohort study representing a collaboration of physicians from 42 countries. We prospectively monitored pregnancies exposed to monotherapy with different doses of four common drugs: carbamazepine, lamotrigine, valproic acid, or phenobarbital. Our primary endpoint was the rate of major congenital malformations detected u...

VATER association represents a cluster of Vertebral, Anal, Tracheo-Esophageal, Radial and Renal malformations, and caudal regression syndrome is an entity consisting of a spectrum of congenital anomalies of lower spine and hips associated with genitourinary and lower limb defects. The concurrence of various malformations may be explained by a common defect in blastogenesis, but direct evidence is yet to be accumulated. Here, by the use of autofluorescence and the teratogenic effect of adriamycin, we demonstrated that adriamycin administered to eggs of White Leghorns distributes to the caudal portion of the embryo and foregut epithelium and induces caudal regression and tracheal and pulmonary agenesis. The induction of caudal regression syndrome-like anomaly was developmental stage and dose dependent. Embryos with caudal regression demonstrated tracheoesophageal anomalies, one of the defects included in VATER association. The stages at which anomalies were produced corresponded to that of human embryos between days 22 and 26 (Carnegie stages 10-11). In view of the antitumor activity of adriamycin by intercalating to double-stranded DNA of undifferentiated cells undergoing rapid cell division, it is possible that adriamycin had preferentially attacked cells in the caudal end where pronounced proliferation takes place during this narrow period of greatest susceptibility. PMID:19218883

Abstract in english The offspring of diabetic mothers have a 10 times higher frequency of congenital malformations and 5 times higher frequency of spontaneous abortions. Since the discovery of insulin, the prognosis of pregnancies has improved, both for the mother and the offspring. However, the prevalence of congenital malformations at birth has not decreased significantly. The embriological process that leads to anomalies in the offspring of diabetic mothers probably occurs between 6 and 8 (more) weeks of gestation. According to animal experiments, hyperglycemia, ketones and free radicals may be involved in the genesis of malfomations, but different strains of rats respond differently to these potential teratogenic agents. Possibly, a higher genetic susceptibility towards congenital malformations also plays a role in diabetic women. Therefore, although the intimate mechanism producing malformations in the offspring of diabetic women is not known, several strategies to decrease the prevalence of malformations in these women, such as the use of antioxidants, are being tested

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.

Abstract:- SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.

... congenital vascular malformation. top of page How should I prepare? You should wear comfortable, loose-fitting clothing ... within 30 minutes. top of page What will I experience during and after the procedure? Ultrasound examinations ...

Objective: Allograft conduits are used for reconstruction of the right ventricular outflow tract in congenital heart malformations (biventricular repair) and autograft procedures. A retrospective evaluation of allograft reconstruction of the right-ventricular-outflow-tract reconstruction was conduct...

... tumors and congenital vascular malformation. top of page How should I prepare? You should wear comfortable, loose- ... sheath and lubricated before insertion. top of page How does the procedure work? Ultrasound imaging is based ...

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked, late-onset skeletal disease. Affected individuals develop phenotypes in their early childhood, displaying barrel-shaped chests, vertebral bodies malformation, flattened disc spaces and premature osteoarthritis in weight-bearing joints. Th...

Abstract in english Background: The risk of congenital malformations is two to three times higher among women with diabetes mellitus before pregnancy. Gestacional diabetes is emerging as a risk factor for malformations. Aim: To study the rate and type of congenital malformations among offspring of women with pre-gestational or gestational diabetes. Material and methods: A search in the databases of the Collaborative Latin American Study for Congenital Malformations and of the Neonatology Uni (more) ty of The University of Chile Clinical Hospital. All births from January 1998 through June 2004 were investigated. Results: In the study period, 13,965 births occurred, of which 0.7% were stillbirths and 8.1% had malformations. A total of 295 women (2.1%) had diabetes (gestational diabetes in 1.8% and pre gestational diabetes in 0.3%). The prevalence of congenital malformations was 14% and 18.3% among offspring of mothers with pre-gestational and gestational diabetes, respectively (p=NS). The prevalence of congenital malformations among offspring of non diabetic women was 7.9% (p

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:20728327

The aetiology proposed for the development of chronic cerebrospinal venous insufficiency (CCSVI) associated with multiple sclerosis (MS) has been the presence of congenital truncular venous malformations. However, this hypothesis is not consistent with the epidemiology or geographical incidence of MS and is not consistent with many of the ultrasonographic or radiographical findings of the venous disturbances found in MS patients. However, the probability of a venous aetiology of MS remains strong based on evidence accumulated from the time the disorder was first described. The method used in this review was to search PubMed for all past medical publications related to vascular, venous, haematological, epidemiological, biochemical, and genetic investigations and treatments of MS. Epidemiological and geographical findings of prevalence of MS indicate the involvement of an infective agent. This review of the venous pathology associated with MS describes a hypothesis that the pathogenesis of the venous disease could be initiated by a respiratory infective agent such as Chlamydophila pneumonia, which causes a specific chronic persistent venulitis affecting the cerebrospinal venous system. Secondary spread of the agent would initially be via the lymphatic system to specifically involve the azygos, internal jugular and vertebral veins. The hypothesis proposes mechanisms by which an infective venous vasculitis could result in the specific neural damage, metabolic, immunological and vascular effects observed in MS. The hypothesis described is consistent with many of the known facts of MS pathogenesis and therefore provides a framework for further research into a venous aetiology for the disease. If MS does result from a chronic infective venulitis rather than a syndrome involving congenital truncular venous malformations, then additional therapies to the currently used angioplasties will be required to optimize results. PMID:22240624

Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later diagnosed as a rare form of a communicating bronchopulmonary foregut malformation, an esophageal atresia combined with right main bronchus originating from the lower esophagus. Therapeutic resection of the right lung was complicated by postpneumonectomy syndrome.

Congenital left-ventricular diverticulum (CVD) is a rare cardiac malformation. Echocardiography, magnetic resonance imaging, multislice computed tomography, and left-ventricular angiography are diagnostic tools. In this case report, we present a 5-month-old infant with CVD associated with congenital ileal atresia. The diverticulum appears to be of the left-ventricular type. PMID:22576766

Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportio...

Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is frequently seen in individuals with an 18q deletion, which is characterized by intellectual disability, reduced white-matter myelination, foot ...

To determine the course of parental reactions to the birth of a child with a congenital malformation and the process of parental attachment, the parents of 20 children with a wide range of malformations including mongolism, congenital heart disease, and cleft palate were interviewed. Structured interviews took place 7 days to 60 months after birth. Despite the wide variation of malformations, analysis of the interviews demonstrated five stages of parental reactions--shock, denial, sadness and anger, adaptation, and reorganization--in dealing with a congenitally malformed child during the course of his development and care. Observations of these patients suggest that early crisis counseling in the first months of life may be particularly crucial in parental attachment and adjustment. PMID:1196728

This is a review of medical imaging studies for congenital anomalies of the lung focused on tracheobronchial and parenchymal anomalies. It is important to know the findings of these developmental anomalies, because they are frequently manifested as infectious diseases or mass. Documented details are pulmonary agenesis, aplasia, pulmonary hypoplasia, tracheal agenesis, bridging bronchus, tracheal bronchus, congenital tracheal stenosis, bronchial atresia, bronchobiliary fistula, bronchogenic cyst, bronchopulmonary sequestration, congenital cystic adenomatoid malformation, and pulmonary lymphangiectasia. (author)

Abstract Conclusion: This study shows that a number of children with sensorineural hearing loss (SNHL) have inner ear malformations demonstrated by multi-slice spiral computed tomography (MSCT). MSCT allows a comprehensive assessment of various congenital inner ear malformations through high quality multiplanar reformation (MPR) and can display the site and degree of the malformation three-dimensionally and intuitively. This is very useful for cochlear implantation. Objective: To evaluate the feasibility and usability of MSCT in pediatric SNHL with inner ear malformations. Methods: Sixty-five patients were diagnosed with SNHL by brainstem auditory evoked response (BAER). Inner ear MSCT scan and coronal MPR reconstruction were performed in all cases. Results: This study demonstrated 20 cases (33 ears) with inner ear malformations, which included 10 ears with cochlear malformations, 7 with vestibular malformations, 5 with semicircular canal malformations, 8 with internal auditory canal (IAC) malformations, and 15 with vestibular malformations. Cochlear malformations included one ear with Michel deformity, two ears with common cavity deformity, one with cochlear aplasia, one with hypoplastic cochlea, two with incomplete partition type I, and three with incomplete partition type II (Mondini deformity). PMID:22830312

Advances in antenatal imaging over the past 10 years have completely changed diagnosis and management of congenital lung disease, especially for congenital cystic adenomatoid malformations and sequestrations that are the two lesions most commonly detected. If early surgical excision is required for symptomatic cases, management of asymptomatic malformations is still discussed. The natural evolution and consequences of later complications of congenital lung malformations need to be compared with the benefits of elective resection and surgical morbidity. Complete regression of sequestrations or clinical and morphological improvement in congenital lobar emphysema pleads for clinical watching. On the other hand, resection is advocated for cystic malformations, because of an increased risk of acute respiratory distress, later infections and the possibility of malignant transformation. Even though the proportion of asymptomatic patients that go on to develop symptoms is hard to evaluate, an argument for elective surgery is a better outcome than emergency surgery. Further studies and long term follow-up are still needed to understand the natural history of congenital lung malformations precisely and help to define the optimal way in which to manage them. PMID:22405122

Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype with severe, early visual impairment and variable eye malformations, including optic nerve hypoplasia, retinal coloboma, congenital cataract and glaucoma. Some of the symptoms overlapped with the phenotype in other congenital disorders of glycosylation type I subtypes, such as vermis hypoplasia, anaemia, ichtyosiform dermatitis, liver dysfunction and coagulation abnormalities. We recently identified pathogenic mutations in the SRD5A3 gene, encoding steroid 5a-reductase type 3, in a group of pat...

Caudal regression syndrome (CRS) is a rare congenital vertebral anomaly, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome. However, in certain cases, clinicians have failed to identify the syndrome due to the lack of apparent anomalies, resulting in the progression of renal dysfunction caused by neuropathic bladder when CRS is eventually identified. Here, we report a case of a 2-year-old girl who was referred to our hospital for vesicoureteral reflux. At examination, she presented no neurological symptoms; however, on cystourethrography and CT scanning we found that the sacral bone was absent, through which CRS was diagnosed. A urodynamic study indicated detrusor-sphincter dyssynergia, and clean intermittent catheterization was initiated. In the present report, we describe a case of CRS with no neurologic symptoms other than a neuropathic bladder. The lack of outward signs can result in delayed diagnosis. Thus, urological examinations, including a urodynamic study, might be the only clue for identifying an underlying neurologic injury involving the lower spinal cord. PMID:22761628

Caudal regression syndrome (CRS) is a rare congenital vertebral anomaly, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome. However, in certain cases, clinicians have failed to identify the syndrome due to the lack of apparent anomalies, resulting in the progression of renal dysfunction caused by neuropathic bladder when CRS is eventually identified. Here, we report a case of a 2-year-old girl who was referred to our hospital for vesicoureteral reflux. At examination, she presented no neurological symptoms; however, on cystourethrography and CT scanning we found that the sacral bone was absent, through which CRS was diagnosed. A urodynamic study indicated detrusor-sphincter dyssynergia, and clean intermittent catheterization was initiated. In the present report, we describe a case of CRS with no neurologic symptoms other than a neuropathic bladder. The lack of outward signs can result in delayed diagnosis. Thus, urological examinations, including a urodynamic study, might be the only clue for identifying an underlying neurologic injury involving the lower spinal cord. PMID:14653314

Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands. In humans, the multisubunit complex cohesin is made up of SMC1, SMC3, RAD21 and a STAG protein. These form a ring structure that is proposed to encircle sister chromatids to mediate sister chromatid cohesion and also has key roles in gene regulation. SMC3 is acetylated during S-phase to establish cohesiveness of chromatin-loaded cohesin, and in yeast, the class I histone deacetylase Hos1 deacetylates SMC3 during anaphase. Here we identify HDAC8 as the vertebrate SMC3 deacetylase, as well as loss-of-function HDAC8 mutations in six CdLS probands. Loss of HDAC8 activity results in increased SMC3 acetylation and inefficient dissolution of the ‘used’ cohesin complex released from chromatin in both prophase and anaphase. SMC3 with retained acetylation is loaded onto chromatin, and chromatin immunoprecipitation sequencing analysis demonstrates decreased occupancy of cohesin localization sites that results in a consistent pattern of altered transcription seen in CdLS cell lines with either NIPBL or HDAC8 mutations. PMID:22885700

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. Morphologic...

Abstract Nonhuman primates have been a common animal model to evaluate experimentally induced malformations. Reports on spontaneous malformations are important in determining the background incidence of congenital anomalies in specific species and in evaluating experimental results. Here we report on a stillborn cynomolgus monkey (Macaca fascicularis) with multiple congenital anomalies from the colony maintained at the Southwest National Primate Research Center at the Texas Biomedical Research Institute, San Antonio, Texas. Physical findings included low birth weight, craniorachischisis, facial abnormalities, omphalocele, malrotation of the gut with areas of atresia and intussusception, a Meckel diverticulum, arthrogryposis, patent ductus arteriosus, and patent foramen ovale. The macaque h...

Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:6693927

Objectives To develop a clear diagnostic and therapeutic strategy for adolescents presenting with abdominal pain and vaginal tumor caused by congenital female genital anomalies, such as blind hemivagina and uterine anomalies, as the lack of the correct diagnosis of the underlying anatomical genitourinary malformation frequently leads to destructive surgical procedures. Methods Retrospective study, study group: patients with double/bicornuate uterus, blind hemivagina and hematocolpos (n?=?13), controls: patients with uterine malformation and complete vertical vaginal septum (n?=?11), analysis for: menarche, age at onset of symptoms, type of malformation, symptoms leading to admission and diagnostic/surgical techniques applied. Results Median age at diagnosis study group 19.85 (SD???6.23, ra...

Atresia ani, a congenital anomaly of the anus, can be associated with other types of malformation. Two female Holstein Friesian calves had imperforate anus, rectovaginal fistula, and perineal choristomas. In one case, the choristoma was composed of mature adipose and fibrous tissue with nephrogenic rests. In the other calf, the choristoma consisted of fragments of trabecular bone coated by cartilage and containing marrow, mixed with mature adipose and fibrous tissue, striated muscle fibers, nerves, and vessels. This combination of malformations resembles the association of anorectal malformations and perineal masses in children. PMID:22552483

Lumbocostovertebral syndrome is a rare clinical association syndrome rarely accompanied by associated VACTERL anomalies. Only one similar case has been reported previously. We describe the second case, where a male neonate born at 38 weeks of gestation had an unusually high number of congenital anomalies including thoracic hemivertebrae with kyphoscoliosis, a high anorectal malformation, dextrocardia with an atrial septal defect, renal pelvic pyelectasis, hypospadias, and congenital talipes equinovarus.

The delta phalanx is a rare congenital skeletal anomaly. An abnormal C-shaped epiphysis is usually responsible for a progressive angular digital deformity observed either in hands or feet. Solitary delta phalanges are usually described. We report a case of bilateral congenital hand malformations featuring a triplet of delta phalanges affecting a single digit on one hand, together with a concealed central polydactyly on the other. (orig.)

Congenital absence of the portal vein with systemic diversion of mesenteric blood is extremely rare. We report a case of a congenital absence of the portal vein, accidentally discovered in a 59-year-old man, completely asymptomatic and not associated with other malformations or biochemical disorders. Ultrasonography imaging showed the absence of the portal vein and the distal tract of superior mesenteric and splenic veins draining together into a dilated left renal vein. Computed tomography and magnetic resonance confirmed the presence of a congenital portosystemic venous shunt and also revealed two hepatic arteries: one arising from the celiac trunk and the other from the superior mesenteric artery.

Intralobar pulmonary sequestration is one manifestation of the wide spectrum of congenital bronchopulmonary foregut malformations. Bilateral intralobar pulmonary sequestration is an exceedingly rare anomaly. Only two pathologically proven cases and one possible case have been reported. We report a case presenting as bilateral paraspinal masses, studied by computed tomograpy (CT) and angiography.

Congenital malformations may present as meningitis caused by enteric organisms, but this is extremely rare and occurs almost exclusively in the paediatric population. We report an unusual case of a young man with chronic constipation presenting with spontaneous Gram-negative meningitis due to an und...

Pulmonary aplasia and bronchopulmonary foregut malformations in which a patent communication between the foregut and the pulmonary system is present are rare congenital abnormalities. Pulmonary aplasia associated with a pulmonary sling is an even rarer abnormality. We report a unique case of right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus diagnosed by multidetector helical CT. (orig.)

Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism...

A heretofore undescribed surgical approach for correcting a rare congenital cardiac malformation consisting of an absent right superior vena cava with persistent left superior vena cava associated with situs solitus draining into the left atrium is presented. The intra-atrial septum was intact. Normal anatomy was achieved and recovery was uneventful. PMID:17670251

Extrahepatic biliary atresia (EHBA) is the most common indication for liver transplantation in infants and children. Congenital malformations associated with EHBA are common and present in about 9%-37%. We describe a case of a child who received a left lobe liver transplant for syndromic EHBA. PMID:19496982

Cystic hygromas, also known as lymphangiomas, are unusual congenital malformations of the lymphatic system. They are normally seen in the head and neck region and very rarely occur in the scrotum. This anomaly manifests as a painless scrotal swelling and is easily misdiagnosed. We report a rare case...

Intracranial lipoma is a rare entity, accounting for less than 0.5% of intracranial tumors, which usually develops in the callosal cisterns. We report a case of lipoma with an unusual location; in the high parietal convexity combined with massive calcification, and no underlying vascular malformation or congenital anomaly.

A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skel...

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported ...

Proteus syndrome is a rare congenital hamartomatous condition with a variety of abnormalities affecting all three germ layers including overgrowth of various parts of the body, hemihypertrophy, unusual skeletal malformation, skin lesions, and various tumors. I describe the radiologic findings in a 12 year-old boy with Proteus syndrome. Computed tomography and magnetic resonance imaging are very useful for the specific diagnosis.

Acalvaria is a rare congenital malformation of unknown pathogenesis characterized by the absence of the flat bones of the cranial vault, dura mater and associated muscles, while the central nervous system is usually preserved. The most accepted physiopathogenic theory suggests the presence of a post neurulation defect with normal placement the embryonic ectoderm. The present report describes neonatal imaging findings of primary acalvaria. (author)

Cornelia de Lange Syndrome (CdLS) is a rare congenital malformation disorder. About half of the patients with CdLS carry mutations in the NIPBL gene encoding the NIPBL protein, a subunit of the Cohesin loading complex. Recent studies show association of Cohesin with chromatin-remodeling complexes, e...

Please cite this paper as: Wilkinson D, Thiele P, Watkins A, De Crespigny L. Fatally flawed? A review and ethical analysis of lethal congenital malformations. BJOG 2012;119:1302-1308. Prenatally diagnosed abnormalities that are associated with death in the newborn period are often referred to as -lethal malformations-. Yet, for many of the commonly described lethal malformations long-term survival is possible if supportive interventions are provided. In this paper we analyse and review fetal or congenital lethal abnormalities. The designation -lethal- overlaps with the concept of -medical futility-. The term is used for a heterogenous group of conditions, and hinders clear communication and counselling. We argue that the term should be avoided, and propose in its place a set of key questio...

Abstract in english Background: The effects of folic acid fortification on neural tube defects is well known. Other reports show a beneficial effect of the fortification on orofacial clefts, urinary malformations and defects caused by limb reduction. Aim: To determine the changes in prevalence of congenital malformations after the start of flour folic acid fortification in Chile. Material and methods: The rates of 22 malformations occurring in the maternity of the University of Chile Clinica (more) l Hospital and other Chilean hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC) were compared before and after the start of flour folic acid fortification. Results: After the start of folic acid fortification a significant reduction in the rates of anencephalia, spina bifida and diaphragmatic hernia, was observed. The rates of all other malformations remained stable or increased. The rates of all malformations at the University of Chile Clinical Hospital had a steady increase until 2005 and were significantly higher than in the rest of hospitals participating in ECLAMC. Conclusions: Folic acid fortification was associated with an expected reduction in rates of spina bifida and anencephalia and an unexpected reduction in the rates of diaphragmatic hernia

Background Agenesis of the internal carotid artery (ICA) is a rare congenital anomaly occurring in less than 0.01% of the population, often incidentally discovered in pediatric populations. We recognized a high incidence of additional congenital malformations in children with ICA agenesis. Objective Our study reports nine cases of ICA agenesis and co-existent malformations and discusses implications of the association. Materials and methods We conducted a retrospective chart review of nine children evaluated at our institution with imaging findings of ICA agenesis. Results Seven children (78%) had congenital aortic or cardiac anomalies including coarctation (4), hypoplastic left heart (1), tetralogy of Fallot (1), and muscular ventricular septal defect (VSD) (1). Four children were diagnos...

In six fetuses with Meckel syndrome (gestational age 16-23 weeks, crown-rump length 130-170 mm) the skeleton was examined as part of the autopsy procedure using whole body radiography and special radiographic techniques. In the upper and lower limbs we found similar types of polydactyly. We noted four types, based on the number and morphology of metacarpals and metatarsals. In the individual fetus there was more often similarity in the pattern of malformation in the two hands or in the two feet than there was between the pattern of malformation seen in the hands and that seen in the feet. Only one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included in the future evaluation of phenotypes in Meckel syndrome.

Abstract in portuguese A fibrodisplasia ossificante progressiva (FOP) é doença rara, autossômica dominante, caracterizada por ossificação heterotópica progressiva pós-natal do tecido conjuntivo e malformação congênita dos háluces. Relatamos o caso de menina de nove anos com o quadro clínico-radiológico típico de FOP, nascida com hálux valgo bilateral e que aos 9 anos de idade apresentou massa dolorosa, de consistência endurecida, sem sinais inflamatórios, situada na região cer (more) vical. Adicionalmente, era possível observar diminuição importante da movimentação em todos os níveis da coluna vertebral e da cintura escapular. A avaliação radiológica revelou a presença de ossificações heterotópicas na região torácica e malformação bilateral dos háluces. A paciente teve outros dois surtos da doença, que foram tratados com corticosteróide oral por quatro dias, (2 mg/kg/dia) seguido por tratamento prolongado com inibidores da Cox-2 (25 mg/dia) e com inibidor de leucotrienos (10 mg/dia). Abstract in english Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. We report on a nine-year-old girl with clinical and radiological features of FOP. She was born with bilateral hallux valgus and at the age of nine presented an indurate mass in the left cervical region that was painful. A significant decreased range of motion (more) in all levels of the spine and shoulder girdle was found. The radiographs showed heterotopic ossification in the thoracic region. The patient had two outbreaks of the disease ("flare-ups") that were treated with prednisone 2 mg/kg/day for four days. After the "flare-ups", she had a continuous therapy with a Cox-2 inhibitor (25 mg/day) and a leukotriene inhibitor, montelukast (10 mg/day).

To analyze the relationship between seminal vesicle cysts (SVC) and the presence of congenital malformations of the genitourinary tract. The authors analyzed retrospectively the abdominal images of eight patients who fulfilled the ultrasound criteria for a definitive diagnosis of SVC: the patients had been studied over a seven-year period. The diagnostic assessment was supported by magnetic resonance in 5 cases, computed tomography in 3, intravenous urography in 1 and vesiculo-deferentography in 2. SVC were associated with congenital malformations of the genitourinary tract in six cases (75%): autosomal dominant polycystic kidney disease in 3, renal agenesis-hypoplasia in 2 and stenosis of the pyeloureteral junction in 1. The cysts were bilateral in six cases. In the remaining two cases in which the cysts were unilateral, renal agenesis-hypoplasia was also present and the cysts were ipsilateral to the renal malformation. In one case, hypoplasia was accompanied by ectopic ureter inserted into the affected seminal vesicle. In two cases, the presence of SVC was the only abnormal finding. One of these two patients had a history of genitourinary tuberculosis and the other had no medical history of interest. When SVC are detected, it is necessary to examine the entire urinary tract of the patient given the frequency with which they are associated with congenital malformations of the renal and excretory systems. In those cases in which there is no accompanying anomaly, the patient should be studied to detect a possible infectious episode to which an obstructive etiology could be attributed. (Author) 17 refs.

Pregnant mice were given p.o. various nonteratogenic doses (0, 2.5 and 10 mg/kg) of methylmercuric chloride on day 9 of pregnancy, and then injected i.p. with a teratogenic dose (4 mg/kg) of mitomycin-C on day 10. Major malformations produced by mitomycin-C alone were cervical rib and vertebral anomaly, polydactyly of the hindlimb and tail anomaly. Combined treatment significantly increased the incidence of these malformations, showing the dose-effect relationship of methylmercury, whereas methylmercury alone is known not to produce such malformations. When mitomycin-C treatment alone was performed on day 9.5 of pregnancy, only vertebral anomalies increased in incidence. Therefore, mitomycin-C teratogenicity in terms of the manifestation of cervical rib, polydactyly and tail anomaly, but not vertebral anomaly, was suggested to be enhanced by methylmercury. A considerable number of foetuses showed cleft palate involvement following combined treatments, but not by either chemical alone. Cleft palate is known to be a major malformation in mice that is caused by methylmercury, and mitomycin-C also induces cleft palate. Therefore, the two chemicals might have affected foetuses additively and thereby induced cleft palate. (orig.)

STUDY OBJECTIVE--The aim was to obtain quantitative information from published data on the potential association between video display terminal (VDT) use during pregnancy and the outcome. DESIGN--Results of nine published case-control studies (or cohort studies analysed as case-control) on the relation between VDT exposure during pregnancy and the outcome were sought by reviewing reference lists in relevant reports and by conducting manual and computer searches of the reports published in English. MEASUREMENTS AND MAIN RESULTS--The nine reviewed reports included information on about 9000 cases of spontaneous miscarriages, 1500 of low birth weight, 2000 of congenital malformation, and 50,000 controls. The results of these studies on each outcome of pregnancy examined were reduced to a single 2 x 2 table (cases/controls--exposed/unexposed). Pooled odds ratio (OR) estimates were computed separately for miscarriage, low birth weight, and congenital malformation. Seven studies analysed the relation between VDT exposure in pregnancy and the risk of miscarriage: the estimates' crude OR of spontaneous abortion ranged from 0.9-1.2 and the pooled OR was 1.0 (95% confidence interval (CI) 0.9, 1.0). No consistent evidence of increasing risk with duration of exposure to VDT was found. Two studies analysed the relation between VDT use and risk of having a low birth weight infant: the OR estimates in the individual studies were 1.0 and 1.1. Likewise, no relation emerged from the five studies providing information on congenital malformations and VDT use: the pooled OR was 1.0 (95% CI 0.9, 1.2). No specific malformation pattern emerged. CONCLUSIONS--This meta-analysis provides reassuring evidence on the absence of any major risk of adverse pregnancy outcome as a result of exposure to a VDT. With the number of cases reviewed, it was possible to exclude excess risk of 20% for spontaneous abortion, low birth weight, and congenital malformations.

Abstract in spanish Se realizó un estudio de los fetos con malformaciones congénitas, dadas por defecto de la pared abdominal (DPA), nacidos en el Hospital Universitario Ginecoobstétrico de Guanabacoa durante los años 1984 al 2000, para determinar la frecuencia de los distintos tipos de defectos de la pared abdominal y las malformaciones asociadas a éstas. Se revisaron los protocolos de necropsias e historias clínicas en este período y se obtuvieron 25 casos con DPA. La malformación (more) más frecuente fue el onfalocele con 14 casos, seguido de la gastrosquisis con 6 casos. Se hallaron malformaciones asociadas en el 68 % de los casos, y se comprobó la efectividad del Programa Nacional de Malformaciones Congénitas, pues en el 80 % de las pacientes se interrumpió precozmente el embarazo. Abstract in english A study of the fetuses with congenital malformations due to defect of the abdominal wall (AWD) that were born at the Gynecoobstetric Teaching Hospital of Guanabacoa from 1984 to 2000 was conducted aimed at determining the frequency of the different types of defects of the abdominal wall and the malformations associated with them. The protocosl of necropsies and medical histories corresponding to this period were reviewed and 25 cases with AWD were detected. The most commo (more) n malformation was omphalocele with 14 cases, followed by gastrosquisis with 6 cases. Associated malformations were found in 68 % of the cases and it was proved the effectiveness of the National Program of Congenital Malformations, since pregnancy was interrupted early in 80 % of the patients.

Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs.

Double outlet left ventricle (DOLV) is a rare congenital cardiac malformation in which both the pulmonary artery and the aorta arise exclusively or predominantly from the morphologic left ventricle. We describe a case of DOLV with situs solitus, d-loop ventricles, d-malposition of the great arteries (S, D, D), severe pulmonary stenosis, and a subaortic ventricular septal defect in which the left ventricle was also severely hypoplastic. The anatomic features were shown with 2-dimensional echocardiography, and the diagnosis was later confirmed at cardiac catheterization. Many morphologic variations of this malformation have been described but to the our knowledge DOLV with a hypoplastic left ventricle has not been reported before. PMID:12514643

We report a male infant with pontocerebellar hypoplasia type 3 and tetralogy of Fallot. He showed optic nerve atrophy, progressive microcephaly, severe psychomotor developmental delay, and vesicoureteral reflux. Magnetic resonance imaging revealed severe hypoplasia of the cerebellar vermis and hemisphere, and of the brainstem including the pons, and simplified gyral patterns in bilateral frontal lobes. An unknown etiology differing from other cases of PCH type 3 might have caused not only optic nerve atrophy and hypoplasia of the cerebellum and brainstem, but also cerebral and visceral malformations. To the best of our knowledge, this represents the first report of pontocerebellar hypoplasia with congenital cardiac malformation.

A cloacal malformation is a congenital malformation in which the urinary tract, gynecological system and distal rectum fail to separate and form a common channel with a single perineal opening. Precise anatomical information is required to plan surgery and predict prognosis for children with this abnormality. Conventional fluoroscopic studies provide limited information, primarily due to the overlap of structures and inability to make accurate measurements. Rotational fluoroscopy and 3-D reconstruction help clarify overlapping structures and allow for precise measurement of the common channel, thereby helping to predict the complexity of the surgical case as well as the long-term prognosis regarding bowel, bladder and sexual function.

Congenital bronchopulmonary malformations encompass a wide spectrum of pathologies involving the lungs, trachea and bronchi, pulmonary vessels, and oesophagus. These developmental lesions are often isolated, but the association of two or more anomalies is not infrequent. Contrast-enhanced multidetector computed tomography (MDCT), thanks to multiplanar and 3D reconstructions, allows for detailed studies of these malformations, achieving better accuracy compared with conventional techniques such as chest X-ray, fluoroscopy, ventilation and perfusion scintigraphy and ultrasonography. MDCT is characterised by fast data acquisition and does not require sedation in the majority of cases. The main drawbacks of MDCT are the use of ionising radiation and ? in many cases ?contrast media. Recently, i...

Intracranial lipomas are rare congenital malformations that can often be seen in association with other brain malformations; agenesis or dysgenesis of the corpus callosum is the most frequently associated brain anomaly. They are usually pericallosal asymptomatic midline lesions. Intracranial lipomas associated with a non-contiguous cerebral aneurysm are extremely rare. We report an infant with partial agenesis of the corpus callosum and pericallosal lipoma associated with cerebral haemorrhage due to a distal middle cerebral artery aneurysm. Such an association is probably not fortuitous and could suggest a pathogenic relationship. (orig.)

Abstract Aneurysm of the vein of Galen is a rare congenital vascular malformation of the central nervous system. There are controversies in the literature regarding the possible prognostic value of aneurysmal volume estimation with 3 dimensional US for the prediction of fetal outcome. In this report, we present a case of prenatally diagnosed large aneurysm of the vein of Galen complicated by heart failure in a fetus. The volume of the malformation was calculated as 17.8 cm3 and the fetal outcome was poor. 2010 Wiley Periodicals, Inc. J Clin Ultrasound 38:443 445, 2010

Background contextMost spinal arteriovenous malformations (AVMs) are dural arteriovenous fistulas in which a singularly intradural venous drainage emanates from an extradural nidus. A pure extradural spinal arteriovenous malformation (E-AVM), in the absence of a vertebral body (cavernous) hemangioma, is extremely rare, and full clinical, radiological, and operative descriptions are scant.PurposeTo fully document the rare occurrence of a symptomatic E-AVM producing spinal claudication.Study designCase report.Patient sampleOne patient.Outcome measuresRadiological and functional.MethodsThis 62-year-old man presented with 6-month progressive spinal claudication, leg weakness, and diminished sensation. Electromyography revealed bilateral acute and chronic partial degeneration of L3-S1 nerve roo...

MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

Abstract in spanish 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 principales malformaciones congénitas en el país. Materiales y métodos. Entre abril de 2001 y enero de 2008, se obtuvo información sobre los pacientes con malformaciones con (more) génitas 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 congenital malformations were tabulated for major urban centers in Colombia. Materials and methods. Information was gathered from 52,744 newborns between April 2001 and January 2 (more) 008 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.

The Hungarian surveillance of germinal mutations is based on three indicator conditions seen in offspring, i.e., 15 sentinel anomalies, Down syndrome and component anomaly pairs of unidentified multiple congenital anomalies. It is an 'opportunistic program', because the necessary data are available from the Hungarian Congenital Malformation Registry. This system is described and the criteria of a good registry are summarized. The analysis of indicator conditions caused by germinal mutations did not reveal any measurable mutagenic effects in Hungary following the accident at the Chernobyl nuclear power plant. The pros and cons of germinal mutation surveillance are discussed. (orig.).

Congenital left ventricular (LV) diverticulum is a rare malformation that can be alone or in association with other congenital abnormalities. Since the several complications have been reported in association with LV diverticulum, as cardiac rupture, heart failure, and endocarditis, patients with LV diverticulum who are managed with conservative treatment would require regular checkups to ascertain the absence of such complications. We report a case of LV diverticulum in a 47-year-old man. He took the serial three-dimensional contrast echocardiography, which was reliable and readily available tool for defining LV diverticulum and monitoring the presence of complications.

ObjectiveTo report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis. Case ReportsThe fetus in the first case presented cebocephaly, semilobar holoprosencephaly, and tetralogy of Fallot on ultrasound at 25 gestational weeks. Cordocentesis using multiplex ligation-dependent probe amplification to detect aneuploidies of chromosomes X, Y, 13, 18, and 21 in uncultured cord blood revealed three copies of all targets on chromosome 13 consistent with the diagnosis of trisomy 13. The fetus in the second case presented bilateral choroid plexus cysts, congenital diaphragmatic hernia, and club foot on ultrasound at 18 gestational weeks. Amniocentesis using array-based comparative genomic hybridization (aCGH) in uncultured amniocyte...

Single coronary artery is a rare congenital anomaly and is commonly associated with other congenital cardiac malformations. This report describes a 42-year-old man with an isolated single coronary artery, in whom the right coronary artery did not originate from the aorta but rather from the distal left circumflex artery. This patient did not have any other cardiovascular anomaly. However, he experienced angina pectoris and evidence of myocardial ischemia. Coronary angiography revealed insignificant coronary artery stenosis. He received medical treatment and responded well. An isolated single coronary artery is extremely rare, and this case may be only the 12th case reported in the literature.   

Introduction Evaluation of the congenital vascular lesions of the brain requires multiple conventional intra-arterial digital subtraction angiographic examinations which have many associated risks including exposure to ionizing radiations. Magnetic resonance digital subtraction angiography is a non-invasive procedure with no related risks of radiation exposure. This technique can be of greater clinical significance in diagnosis and treatment planning of neurovascular abnormalities among children who are at far greater risk of invasive procedures like intra-arterial digital subtraction angiography. Case report We report a congenital pial arteriovenous fistula in an infant which is a rare vascular lesion and has recently been identified as different from other vascular malformations. Magneti...

Malformation of the inner nose is often found in conjunction with different types of cleft palate or may be seen with severe and complex craniofacial anomalies. Among such malformations, however, isolated vomer aplasia is rarely reported in the literature. This study sets forth our findings that congenital vomeral defect of the nasal septum is an isolated disorder with hereditary characteristics. Between 2001 and 2009, nine cases of isolated congenital vomeral bone defect were detected on endoscopic examination of patients referred to our clinic with nasal and otologic complaints. The files of these patients were reviewed and vomer aplasia was identified as an isolated hereditary condition with concomitant sinonasal symptoms. The defect of the posteroinferior part of the nasal septum was d...

Background Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation. Data sources PubMed database was searched with terms of ?congenital heart defects??, ?fetal echocardio...

Down syndrome (DS) is a genetic pathology due to the triplication of human chromosome 21. In addition to mental retardation, individuals with DS exhibit a large range of variable traits, including co-occurring congenital malformations. It is now clear that neurogenesis impairment underlies the typically reduced brain size and, hence, mental retardation in individuals with DS. The small body size and the constellation of congenital malformations in children with DS suggest that proliferation defects may involve peripheral tissues, in addition to the brain. The goal of the current study was to establish whether a generalized impairment of cell proliferation is a key feature of the trisomic condition. We used the Ts65Dn mouse, a widely used DS model, and examined proliferation in tissues with...

Objective To provide evidence for more accurate diagnosis of birth defects based on the pathoanatomy of congenital malformations. Methods Data used in this study were obtained from Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead fetuses and stillbirths were performed. Photos of dead fetuses and stillbirths were taken, tissues were cut into sections for pathological examination under microscope, all pathological information was recorded, and percentage of birth defects was calculated. Results The proportion of dead fetuses and stillbirths with or without congenital malformations was 84.4% (135/160) and 15.6% (25/160), respectively. There were 16 categories of major external and interna...

Abstract The incidence of type 2 diabetes mellitus (non-insulin-dependent diabetes mellitus) is growing worldwide and poses a serious public health problem in a current paradigm of changing life style and food habits. Tolbutamide (sulfonylurea) is among the commonly used anti-diabetic drugs worldwide for treating type 2 diabetes and is known to cause congenital malformations in animals. In this study, the effect of tolbutamide on major organogenesis period and the possible involvement of apoptosis in mediating congenital malformations have been carried out. In the present study design, post-implantation rat embryos of day 11 were cultured for 24-h with various concentrations of tolbutamide, i.e., 10, 100, and 1000-g/mL cultures, respectively. The growth and developmental of each embryo was...

The ball-and-socket ankle joint is a malformation of the ankle in which the articular surface of the talus is hemispherical in both the anteroposterior and lateral projections and has a congruent, concave tibial articular surface. Fourteen patients with this condition were identified retrospectively. Thirteen patients were thought to have the congenital type of ball-and-socket ankle joint which in many was associated with tarsal coalition, short limb, and ray fusion and deletion anomalies. One case of the acquired type, demonstrating less geometric rounding of the talar margins, was seen in a patient with myelomeningocele, probably resulting from sensory and motor deficits. Although the exact etiology of the congenital type is unknown, its association with other malformations suggests that the ball-and-socket ankle joint results from an overall maldevelopment of the ankle and foot.

To investigate the effects of raised maternal BMI on pregnancy outcome in glucose tolerant women, using the IADPSG criteria. Prospective observational study of fetal and maternal outcome in a cohort of pregnant women recruited to a universal screening programme for gestational diabetes under the ATLANTIC-DIP partnership. Maternal outcomes included glucose, delivery mode, pregnancy induced hypertension (PIH), preeclampsia (PET), antepartum hemorrhage (APH) and postpartum hemorrhage (PPH). Fetal outcomes included birthweight, congenital malformation, fetal death, neonatal jaundice, hypoglycemia and respiratory distress. Increasing maternal BMI was associated with adverse pregnancy outcomes: higher cesarean section rates, pre-eclamptic toxemia, pregnancy induced hypertension, increased birth weight and congenital malformation. There was also an association between normal range glucose and emergency cesarean section, hypertension of pregnancy and birthweight. In spite of tightening criteria for hyperglycemia during pregnancy, raised BMI is associated with adverse pregnancy outcome. PMID:22838105

Background Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare. In addition to previous studies, the occurrence of spinal, vertebral, and cutaneous cavernous angiomas is now described in different members of a large family with CCM. Case Description Our study reports a previously described family (IFCAS-07) with 12 members affected by autosomal dominant cavernous angiomas: 11 had CCM either alone or associated with hepatic or retinal angiomas, and one had only hepatic angioma. In all 11 members affected by CC...

Paraduodenal hernia is a rare congenital malformation. Although it may be an incidental finding at autopsy or at laparotomy, some cases are symptomatic. In such a condition, imaging is mandatory for the diagnosis. In the clinical literature, only a few cases of paraduodenal hernia diagnosed with computed tomography (CT) have been reported. We report two cases of surgically proven right paraduodenal hernia diagnosed preoperatively by multislice helical CT.

Vascular malformations are infrequent causes of aqueductal stenoses, developmental venous anomaly (DVA) being the rarest among them. DVAs, also known as venous angiomas, are congenital in origin and characterized by dilatation of vessels in the superficial and deep venous system. Although they are usually clinically silent, they can be complicated by hemorrhage, seizures and neurologic deficits. Herein, we report MR imaging findings of a 7-year-old girl whose hydrocephalus was due to an abnormal vein coursing through the aqueduct. (orig.)

Microcephaly results from inadequate brain growth during development. It may develop in utero, and therefore be present at birth, or may develop later as a result of perinatal events or postnatal conditions. The aetiology of microcephaly may be congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult. This distinct radiological and pathological entity is reviewed with a specific focus on aetiology. (orig.)

A newborn, with SDS (S = situs viscero-atrialis solitus, D = D-loop of the ventricles, S = solitus, normally related great arteries) anomalous drainage of the right superior vena cava in the left atrium, intact atrial septum, and anomalous drainage of the right superior pulmonary veins in the right superior vena cava, underwent surgical repair at our institution. This rare cyanotic, congenital, cardiac malformation is herein described with particular regard to its anatomical, embryological, and surgical implications. PMID:16731186

Interrupted aortic arch (IAA), a rare congenital malformation of the aortic arch, is defined as a loss of luminal continuity between the ascending and descending portions of the aorta. It is rarely diagnosed as an isolated anomaly in adulthood. Surgical repair is feasible through a sternotomy or thoracotomy incision. In this report, we describe the surgical repair of an isolated IAA in a 29-year-old patient by performing an ascending-to-descending aortic bypass via a sternotomy with cardiopulmonary bypass. PMID:23092669

Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

Posterior microphthalmos is a rare congenital malformation characterized by normal anterior segment dimensions with an abnormally small posterior segment resulting in high hyperopia. Reduced visual acuity in these cases is sometimes caused by the presence of papillomacular retinal folds. We report two cases of posterior microphthalmos in which the papillomacular folds could be visualized on spectral domain optical coherence tomography with sufficient detail to illustrate that only the layers of neural retina within the external limiting membrane were involved.

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.

Lymphangioma is a hamartoma, which is a benign tumor caused by congenital malformation of the lymphatic system. These tumors usually occur in the neck and axilla, and occasionally in the mediastinum, mesenterium, retroperitoneum and thigh, The scrotum and perineum are the least frequent sites. We report here on an uncommon case of cystic lymphangioma that presented as focal hemorrhage caused by percutaneous needle aspiration, and we briefly review the radiologic finding and the relevant literature

A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed. (orig.)

Myeloschisis is the most serious and complex congenital anomaly in spina bifida manifesta (cystica). However, with improvements in medical care and increased understanding of its pathophysiology, the associated long-term morbidity and mortality rates have been significantly reduced. This article reviews various issues associated with the neurosurgical management of patients with myeloschisis, such as perinatal management, repair surgery for myeloschisis, neurosurgical management of hydrocephalus, Chiari malformation type II, tethered cord syndrome and epilepsy, and intrauterine fetal surgery.   

Cardiac CT angiography (CTA) is an ideal tool to investigate possible cardiac malformations. In this case, careful planning of the CTA acquisition and reconstruction provided high resolution images of cardiac anatomy revealing 2 extremely rare coexisting congenital defects; a unicuspid aortic valve (UAV) and sinus of Valsalva aneurysm (SVA). Detailed planning of CTA acquisition reconstruction protocols is essential in obtaining necessary information for clinical decision-making strategies and interventions in the patients with suspected cardiac anomalies.

Abstract We report on a female patient with Dandy Walker malformation possibly caused by heterozygous loss of ZIC1 and ZIC4. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fourth ventricle on brain magnetic resonance imaging, which is consistent with Dandy Walker malformation. A chromosome analysis showed interstitial deletion of chromosome 3q23 q25.1. Fluorescence in situ hybridization (FISH) and microarray based genomic analysis revealed the heterozygous deletion of ZIC1 and ZIC4 loci on 3q24. Her facial features were not consistent with those observed in blep...

Purpose Women with child wish are advised to take folic acid supplements to reduce the risk for spina bifida. However, there is less evidence for this protective effect in women using valproic acid (VPA). We investigated the effect of folic acid in women exposed to VPA in the first trimester of pregnancy. Methods A case-control study was performed with data from a population-based registry of congenital malformations. Our cases were spina bifida registrations and all other malformed registrations (excluding folic acid sensitive malformations) were used as controls. Results The ORs for the effect of correct folic acid use were calculated among antiepileptic drug (AED) unexposed pregnancies 0.5 [95%CI: 0.3-0.7] and among VPA exposed pregnancies 1.0 [95%CI: 0.1-7.6]. Discussion Due to power-r...

Arnold-Chiari malformations are a group of congenital or acquired defects associated with the displacement of cerebellar tonsils into the spinal canal. First described by Chiari (1891), this has various grades of severity and involves various parts of neuraxis, for example, cerebellum and its outputs, neuro-otological system, lower cranial nerves, spinal sensory and motor pathways. The symptomatology of Arnold-Chiari malformations may mimic multiple sclerosis, primary headache syndromes, spinal tumours and benign intracranial hypertension. We highlighted a case of Chiari type I malformation, who presented with posterolateral ataxia associated with significant vitamin B(12) deficiency. The patient was supplemented with vitamin B(12) injections and showed remarkable improvement at follow-up after 3 months. PMID:22778461

WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT •?It has generally been regarded as safe to take erythromycin during pregnancy. A recent study from Sweden found that erythromycin exposure in the first trimester was associated with congenital cardiovascular defects. The results led to warnings against using erythromycin in the first trimester from both the Swedish and Norwegian governments. WHAT THIS STUDY ADDS •?This large, population-based register study did not find that erythromycin or macrolide use in pregnancy was significantly associated with congenital malformations, cardiovascular malformations or any other specific malformation. AIMS Erythromycin is a macrolide antibiotic indicated for respiratory tract infections, genital chlamydia and skin infections. It has recently been suggested that erythromycin use in the first trimester of pregnancy can increase the risk of congenital cardiovascular malformations. This study aimed to determine whether erythromycin exposure in the first trimester is associated with cardiovascular or other malformations. METHODS We studied 180?120 women in Norway who were pregnant during 2004-2007. Data on all live births stillbirths and induced abortions after 12 gestational weeks from The Medical Birth Registry of Norway (MBRN) were linked to information from the Norwegian prescription database (NorPD). We compared the pregnancy outcomes of women who had taken erythromycin (n= 1786, 1.0%), penicillin V (n= 4921, 2.7%) or amoxicillin (n= 1599, 0.9%) in their first trimester with outcomes of women who had not taken any systemic antibiotics (n= 163?653, 90.9%) during this period. RESULTS The risk of cardiovascular malformations was not significantly different with or without exposure to erythromycin in the first trimester (adjusted OR = 1.2 [95% CI 0.8, 1.8]) or in the most vulnerable period of heart formation (adjusted OR = 1.6 [95% CI 0.9-3.0]). Sub-analyses showed that the risk for any specific malformations was not increased with erythromycin, macrolides, penicillin V or amoxicillin compared with no antibiotic use in first trimester. CONCLUSIONS This large, population-based register study did not find that exposure to erythromycin or macrolides in the first trimester of pregnancy was associated with fetal cardiovascular or other malformations. These results suggest that the risk of erythromycin use during early pregnancy, if any, is low. PMID:22463376

In human, congenital malformations of the limbs are ranked among the most prevalent of all congenital birth defects. Substantial portion of these defects has genetic origin. Increasing knowledge about the particular mutations responsible for limb malformations in human results in the increasing availability of DNA diagnostic procedures for confirmation of clinical diagnosis and family counselling. Increasing understanding of the underlying developmental processes revealed by studying limb defects both in human and animal models may offer better therapeutic options in the future. This review concentrates on the role of Hox genes in limb development. Man, as well as other mammals, has 39 HOX genes, divided into 4 complexes (clusters). HOX genes play a major role in body plan layout and development of many organ systems. Experimental data show that during the limb development, HOX genes influence patterning along the proximodistal and anteroposterior (thumb-little finger) axis of the limb bud. In human, limb malformation was described in patients with mutations in HOXA11, HOXA13, HOXD10, and HOXD13 genes. Most frequent among these malformations are hand-foot-genital syndrome caused by HOXA13 gene mutation, and synpolydactyly caused by HOXD13 mutation. Severity of the phenotype manifestation of these diseases is variable, and depends on the particular mutation type, where point mutations, polyalanine expansions and deletions can take part. PMID:20662453

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.)

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.

Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome.European Journal of Human Genetics advance online publication, 13 June 2012; doi:10.1038/ejhg.2012.117. PMID:22692065

Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities. Since 2007, this syndrome has been renamed macrocephaly-capillary malformation. CASE REPORT: The pregnancy was marked by polyhydramnios associated with fetal macrosomia and macrocephaly. Clinical examination of the newborn confirmed overgrowth, macrocephaly, and found skin abnormalities with diffuse marbled skin, filtrum and upper lip vascular anomaly, and several superficial capillary malformations on the chest and abdomen, partial bilateral syndactyly between the 2nd and 3rd toes, and right hemi-hypertrophy of the body. Brain magnetic resonance imaging showed moderate right hemimegalencephaly. Radiological examination of the skeleton showed asymmetry of the limbs. At 8 months, the medical follow-up confirmed the diagnosis and its neurosurgical treatment of hydrocephalus secondary to an Arnold Chiari malformation. DISCUSSION: The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry. We describe the major components of this multiple malformative syndrome that is rarely reported in the pediatric literature, especially in newborns. This syndrome should be detected early because medical multidisciplinary follow-up is necessary to prevent different complications (neurological, orthopedic, or oncologic). PMID:22884750

Abstract in portuguese As malformações congênitas do pulmão são raras e variam muito na sua forma de apresentação clínica e gravidade, dependendo principalmente do grau de envolvimento pulmonar e de sua localização na cavidade torácica. Elas podem se manifestar em qualquer idade e podem ser fonte de importante morbidade e mortalidade em lactentes e crianças. Os indivíduos com malformações congênitas do pulmão podem apresentar sintomas respiratórios ao nascimento, enquanto outr (more) os podem permanecer assintomáticos por longos períodos. Atualmente, com o uso rotineiro da ultrassonografia pré-natal, vem ocorrendo um aumento no diagnóstico mais precoce dessas malformações. A manifestação clínica dessas malformações varia desde uma disfunção respiratória pós-natal imediata a um achado acidental na radiografia de tórax. O diagnóstico precoce e o tratamento imediato oferecem a possibilidade de um desenvolvimento pulmonar absolutamente normal. Quando assintomáticos, a conduta para o tratamento dos pacientes com malformações pulmonares ainda é controversa, uma vez que o prognóstico dessas afecções é imprevisível. O manejo dessas lesões depende do tipo de malformação e de sintomas. Devido ao risco de complicação, a maioria dos autores sugere a ressecção da lesão no momento em que essa é identificada. A lobectomia é o procedimento de escolha, fornecendo excelentes resultados a longo prazo. Este artigo descreve as principais malformações pulmonares congênitas, seu diagnóstico e controvérsias quanto o tratamento. Abstract in english Congenital lung malformations are rare and vary widely in their clinical presentation and severity, depending mostly on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and children. Individuals with congenital lung malformations can present with respiratory symptoms at birth or can remain asymptomatic for long periods. Recently, there has been an (more) increase in the early diagnosis of these malformations, a change that is attributable to the routine use of prenatal ultrasound. The clinical manifestation of these malformations varies from respiratory distress in the immediate postnatal period to an incidental finding on chest X-rays. Early diagnosis and prompt treatment offer the possibility of absolutely normal lung development. The treatment of asymptomatic patients with lung malformations is controversial, because the prognosis of these diseases is unpredictable. The management of these lesions depends on the type of malformation and symptoms. Because of the risk of complications, most authors recommend resection of the lesion at the time of diagnosis. Lobectomy is the procedure of choice and yields excellent long-term results. This article describes the principal congenital lung malformations, their diagnosis, and the controversies regarding treatment.

Juxtaposition of the atrial appendages is a rare congenital cardiac malformation, with the appendages both located on the left or right side of the great arteries. It is usually associated with cyanotic congenital heart disease. The aim of this report is to illustrate the anatomical features of normal and juxtaposed atrial appendages, with a review of the associated anomalies. In the Anatomical Collection of Congenital Heart Disease of the University of Padua, consisting in 1,526 specimens, we found 17 (1.1%) cases of atrial appendages juxtaposition with left juxtaposition in 15 (88%) and right juxtaposition in 2 (12%). Complete form was present in 11 cases and partial form in 6. In left juxtaposition, the situs was solitus in all, and the most frequent anomalies were complete transpositio...

Genitourinary imaging has evolved along with the ever improving technology, in addition, our pattern of referrals has changed, with most neonates being presently asymptomatic and their examinations being prompted by prenatally detected abnormalities. Ultrasonography dominates in this domain because of the combination of the excellent demonstration of anatomy, lack of ionizing radiation, widespread availability, possibility for a dynamic examination, decreased need for sedation, and low cost. With faster sequences, magnetic resonance imaging plays an increasingly significant role predominantly with complex congenital anomalies because of its excellent delineation of anatomy as well as the absence of ionizing radiation. Fluoroscopic studies are also helpful to delineate the anatomy in certain cases and to identify connections between structures that may be present in congenital anomalies. This article reviews normal anatomy and congenital malformations of the genitourinary system. PMID:23146165

Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

Human heterotaxy syndrome is characterized by a wide variety of cardiac and extracardiac congenital malformations that are primarily induced by disorders of the left-right axis determination during early embryonic development. The cellular and molecular mechanisms of the left-right asymmetry have been extensively investigated in the past decade and the developmental mechanisms of the syndrome have been considerably elucidated. Medical and surgical management and treatment of heterotaxy syndrome have advanced as well. However, prognosis of the disease still remains unsatisfactory because the syndrome is often associated with a combination of complicated congenital heart diseases. Management of heterotaxy patients, particularly those who have undergone the Fontan procedure, is now one of the most important issues in pediatric and adult congenital heart disease clinics. In this review, we focus on the recent advances in knowledge of the genetic and molecular pathogenesis of heterotaxy syndrome, as well as its clinical features, management, and prognosis.??(Circ J?2012; 76: 2066–2075)   

Please cite this paper as: Obermann-Borst S, Vujkovic M, de Vries J, Wildhagen M, Looman C, de Jonge R, Steegers E, Steegers-Theunissen R. A maternal dietary pattern characterised by fish and seafood in association with the risk of congenital heart defects in the offspring. BJOG 2011; DOI: 10.1111/j.1471-0528.2011.02984.x. Objective- To identify maternal dietary patterns related to biomarkers of methylation and to investigate associations between these dietary patterns and the risk of congenital heart defects (CHDs) in the offspring. Design- Case-control study. Setting- Western part of the Netherlands, 2003-08. Population- One hundred and seventy-nine mothers of children with CHD and 231 mothers of children without a congenital malformation. Methods- Food intake was obtained by food freque...

Caudal regression syndrome consists of multiple congenital anomalies, mainly caudal segment defects. We describe a preterm baby born to a healthy mother with typical caudal regression picture, including imperforated anus with rectovesical fistula, sacral agenesis, multiple rib and vertebral anomalies, and club feet. Crossed fused renal ectopia with fused ureters resulting in urinary obstruction was managed with transureteroureterostomy and cutaneous vesicostomy. We also found a single large umbilical artery with high abdominal aortic insertion which usually presents in sirenomelia. Because of the anatomical diversity of the urinary and cardiovascular systems associated with multiple congenital anomalies, careful evaluation is mandatory. PMID:17968797

Congenital malformations can be induced in the offspring of laboratory animals treated with the mutagens, ethylnitrosourea, methylnitrosourea, mitomycin C, triethylenemelamine or procarbazine before copulation. The spectra of malformations in the offspring classified as male-mediated malformations after exposure of paternal mice to mutagens showed no evidence of mutagen-specificity or germ-cell stage-dependent variations. Recently, we demonstrated the increased incidence of congenital malformations in the offspring of male mice exposed in utero to synthetic estrogens such as diethylstilbestrol (DES), 17?-estradiol (E2) or ethynyl estradiol (EE), and that the induction of male-mediated malformations by DES, E2 or EE showed a clear threshold effect. Developmental exposure to DES, E2 or EE caused partial atrophy and feminization in the genital tract. They also showed transgenerational effects when applied prenatally at a dose which caused histopathological changes in the testes. Germ-cell series in normal testis have mechanisms to select against spontaneously arising mutation; but these selection mechanisms may not function efficiently in chemically-damaged testes. Based on these results and considerations, we propose as a hypothesis that transgenerational teratogenesis by prenatal exposure to synthetic estrogens may occur as a consequence of testicular toxicity. Moreover, since DES has been reported to be non-genotoxic, epigenetic mechanisms such as DNA methylation may be involved in the transgenerational teratogenesis induced by estrogenic drugs. The expression patterns of DNA methyltransferases (Dnmts) mRNA, global DNA methylation levels in testicular cells of embryos exposed to estrogenic drugs or in epididymal sperm of mature male mice exposed prenatally to estrogenic drugs were different from those in the controls. Results shown in this review support the proposal that, when evaluating the toxicities of environmental chemicals including endocrine disruptors, epigenetic effects such as DNA methylation should be taken into account.   

Abstract in spanish Introducción: Las malformaciones congénitas (MFC) constituyen actualmente, la segunda causa de muerte en el primer año de vida, lo que las transforma en un problema de Salud Pública. Objetivos: Este estudio pretende evaluar los efectos de esta patología en la Unidad de Cuidados Especiales Neonatales (UCEN) del Hospital Clínico Universidad de Chile. Pacientes y Método: Se estudió todos los recién nacidos (RN) malformados de 500 gramos o más, vivos y mortinatos, p (more) eríodo 2000-2003. Se utilizó la base de datos del ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) y de la UCEN. Resultados: En el período hubo 7 858 nacimientos. Sesenta casos (0,76%) fueron mortinatos y 16 de ellos (26,6%) tenían MFC. Se encontró 639 nacidos vivos con malformaciones (8,2%), 139 de ellos con defectos severos, 13 fallecieron poco después de nacer, 126 (19,8%) necesitaron hospitalización y 49 (38,9%) requirieron tratamiento quirúrgico. Observamos una mortalidad de los RN hospitalizados de 65,4% en malformados y 34,6% por otras causas. La mortalidad por malformaciones fue de 4,6 por 1 000 NV. Conclusiones: Los niños hospitalizados por MFC tienen una mortalidad el doble que los fallecidos por otras causas, con un período de hospitalización mayor Abstract in english Introduction: Congenital malformations (CM) are the second cause of death in infants under one year-age, becoming a Public Health problem. Objective: to evaluate the effects of these pathologies in the Special Neonatal Care Unit (UCEN) at the Clinical Hospital of the University of Chile. Method: All babies with congenital malformations and birth weight over 500 g, born between 2000 and 2003 were studied. Data was obtained from ECLAMC (Latin American Congenital Malformatio (more) ns Colaborative Study) and from our Neonatal Unit data base. Results: 7858 births were registered. 60 cases were still-birth (0,76%) and 16 (26,6%) had congenital malformations. We found 639 live-birth babies with birth defects (8,2%), 139 had severe defects, 13 babies died short after born and 126 (19,8%) needed hospitalization and 49 (38,9%) needed surgery. We observed a death rate of 65,4% in newborn with CM and 34,6% for other causes. The death rate from CM was 4,6 per 1000 live-birth. Conclusions: Infants with congenital malformations have twice the death rate than infants hospitalized from other causes, with a prolonged period of hospitalization

Introduction Congenital spinal vertebral anomalies may present with deformity resulting in congenital scoliosis and kyphosis. This leads to abnormal spinal growth. The latter when combined with associated rib fusions may impair normal thoracic cage development and resultant pulmonary hypoplasia. Most congenital scoliosis can be detected in utero by ultrasound scan or recognized in the neonatal period, but a few spinal defects can remain undetected. Materials and Methods In this Grand Round, we present the case of a 7-year-old girl with a severe scoliosis and thoracic insufficiency syndrome (TIS). 3D CT reconstruction imaging demonstrated a mixed picture of fusion and segmentation abnormalities. A marked kyphoscoliosis was demonstrated at the thoraco-lumbar junction. Via a left thoracotomy,...

Abstract in portuguese Malformações cavernosas (MFC) do sistema nervoso central são malformações do desenvolvimento do leito vascular com múltiplas apresentações clínicas devido a sua natureza dinâmica. Apresentamos dois casos de malformações cavernosas do tronco cerebral: o primeiro após radioterapia e o segundo em paciente grávida com hemorragia intracraniana sintomática. MFC são responsáveis por cerca de 8-15% de todas as malformações vasculares. Embora tradicionalmente se (more) jam genéticas, as MFC podem também ser adquiridas, particularmente após radioterapia. As manifestações clínicas são variáveis e o tratamento cirúrgico deve ser considerado para pacientes com quadros neurológicos progressivos. Abstract in english Central nervous system (CNS) cavernous malformations (CMs) are developmental malformations of the vascular bed with a highly variable clinical course due to their dynamic nature. We present one case of "de novo" brainstem cavernous malformation after radiation therapy adding to the increasing number of reported cases in the medical literature, and the case of a pregnant patient with symptomatic intracranial hemorrhage related to brainstem CMs to illustrate the complex nat (more) ure in management of these patients, followed by a review of clinical and radiographic characteristics. CMs account for 8-15% of all intracranial and intraspinal vascular malformations. Although traditionally thought to be congenital in origin, CMs may present as acquired lesions particularly after intracranial radiation therapy. Clinical manifestations are protean and surgical treatment should be considered for patients with progressive neurologic deficits.

Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:9498247

Nurses working in selected departments of general hospitals in Finland were collected from a central register on health personnel in Finland. Using the Hospital Discharge Register and the Register of Congenital Malformations, case nurses were selected who had had a spontaneous abortion (N = 217) or a malformed child (N = 46) between the years 1973 and 1979. Controls consisted of three nurses who had had a normal birth; the control nurses were matched for age and hospital of employment. Information on exposure in the first trimester of pregnancy was sought through the head nurses of the hospitals. No significant increase in risk of spontaneous abortion or of malformation was observed after exposure to anaesthetic gases (odds ratio for spontaneous abortion 1.2), sterilizing gases and soaps, or x-rays. Handling of cytostatic drugs did not affect the frequency of spontaneous abortion but was associated with malformations in the offspring. The odds ratio, based on eight cases, was 4.7 (p = 0.02) when the logistic model was adopted. The results suggest that the exposures investigated, other than cytostatic drugs, do not cause a strong reproductive risk. Further studies are needed, particularly on cytostatic drugs.

Background: Carbamazepine is an antiepileptic drug used widely for the treatment of epileptic seizures and neuropathic pain. Several malformations in humans, mainly neural tube defects, have been reported as a consequence of its use during pregnancy. The association between maternal use of carbamazepine and congenital eye malformations is not very well understood. Objective: The purpose of this study was to examine this association after intraperitoneal injection of carbamazepine during the period of organogenesis in mice. Methods: Balb/c timed-pregnant mice were divided into 4 experimental and control groups. Two experimental groups received daily intraperitoneal injections of 15 mg/kg (group I) or 30 mg/kg (group II) of carbamazepine on gestational days 6 to 15. Two control groups receiv...

Mid November 2011 a new virus, provisionally named Schmallenberg virus was detected in serum samples from dairy cattle with short febrile episodes, milk yield drop, and diarrhoea, using virus isolation and real-time quantitative reverse transcription PCR (RT-qPCR). December 2011, brain tissue samples of congenitally malformed lambs were diagnosed as positive. Schmallenberg virus most likely belongs to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae and is arthropod-borne. Similar viruses can be found worldwide, but occurrences are rare in Europe. Malformations included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Prevention and control is complicated as sui...

Abstract Background and Aim: Congenital portosystemic veno-venous malformations are rare abnomalities that often remain undiagnosed. Typically they are classified by their anatomical characteristics according to Morgan (extrahepatic, Abernethy malformations type Ia,b and II) and Park (intrahepatic, types 1-4). However, their clinical presentation is less dependent on the anatomical type. Method: We reviewed the clinical characteristics of six cases drawn from our files (from 1970 to 2006). Results: One patient, a 25-year-old male, had extrahepatic shunting whereby the liver receives only arterial blood because the portal vein (PV) connects with the inferior caval vein (ICV) (Abernethy Ib); he presented with episodes of jaundice and pruritus. Three patients had extrahepatic shunting with pa...

Chiari malformations 1, 2, 3 represent different degrees of herniation of posterior fossa content into the cervical canal (Chiari 1 and 2), or through an upper-cervical meningocele (Chiari 3), whereas Chiari 4 anomaly consists of hypoplasia of the cerebellum. Chiari 1 malformation (CM1) is the commonest anomaly; it is probably related to a mesodermal defect that create a congenitally small posterior fossa, subsequent overcrowding of its contents and herniation through the foramen magnum. The diagnosis of CM1 is based on the demonstration of the downward displacement and particular shape of the cerebellar tonsils into the upper cervical spinal canal associated with obliteration of the subarachnoid spaces at the level of the foramen magnum. MRI has a fundamental role in the correct identific...

CHARGE (Coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and/or development, genital anomalies, ear anomalies) syndrome (OMIM #214800) affects about 1 in 10,000 children and is most often caused by chromodomain helicase DNA-binding protein-7 (CHD7) mutations. Inner ear defects and vestibular abnormalities are particularly common. Specifically, semicircular canal (SCC) hypoplasia/aplasia and the presence of a Mondini malformation can be considered pathognomonic in the context of congenital malformations of the CHARGE syndrome. We obtained a temporal bone (TB) of a patient with CHARGE syndrome who died from bacteremia at 3 months of age. The clinical diagnosis was confirmed in the patient by direct DNA sequencing and the detection of a de novo, tru...

Abstract The Currarino syndrome is a rare triad that is a combination of a presacral mass, a congenital sacral bony abnormality and an anorectal malformation. We present 4 children with complete Currarino triad who were diagnosed using MRI. Our aim was to report the neurosurgical management of Currarino syndrome in children. All of the patients had chronic constipation and pain in the lumbosacral region. In the plain radiograph, 3 patients had a sacral scimitar-shaped bony abnormality, and 1 patient had total sacral agenesis. There was a narrow anal canal or narrow ventrally displaced anus in all patients. Their anorectal malformations were characterized as anal stenoses (4 patients), associated with Hirschsprung's disease in 2 cases. In 3 patients, MRI showed tethered cord syndrome in add...

Arteriovenous fistuli are congenital malformations. Usually symptoms depend on size of the lesion. Lesions smaller than 2 cm are often asymptomatic. The most common symptoms are dyspnea, palpitation and fatigue. Cyanosis is indicative of right to left shunt. Helical computed tomography (CT) scan is a helpful diagnostic tool in this case. Surgery is the treatment of choice in patients with isolated lesions. Embolization is a selective method in patients with multiple or bilateral lesions. The patient was a 13-year–old boy complaining of cyanosis of lips and nails as well as dyspnea for 5 years. Definite diagnosis of pulmonary arteriovenous malformation (PAVM) in the right middle lobe was based on CT angiography. The patient underwent a thoracotomy and lobectomy of the right middle lobe. After surgery cyanosis and dyspnea were completely resolved.   

STUDY QUESTION: 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)? SUMMARY ANSWER: Children born after TPT have similar neonatal outcome, including total malformation rates, as have children born after ICSI and IVF with ejaculated sperm. Testing for variance over the four groups may indicate smaller differences in specific malformation rates with TPT as the highest risk group. WHAT IS KNOWN ALREADY: Regarding neonatal outcome as well as congenital malformations in children born after TPT, studies are few, with limited sample size, heterogeneous and often performed without relevant control groups. STUDY DESIGN, SIZE, DURATION: Population-based cohort study including all Danish children born after TPT and fresh embryo transfer in Denmark from 1995 to 2009. Children born after transfer of frozen-thawed embryos were excluded. Control groups of children conceived by ICSI with ejaculated sperm, IVF and NC were identified by cross-linkage of the Danish IVF Register, Medical Birth Register (MBR) and National Hospital Discharge Register (HDR). PARTICIPANTS/MATERIALS, SETTING: The study group consisted of 466 children born after TPT, while the control groups consisted of 8967 (ICSI with ejaculated sperm), 17 592 (IVF) and 63 854 (NC) children. Neonatal outcomes and congenital malformations were analysed for singletons and twins separately. Risk estimates for low birthweight (LBW, RESULTS AND THE ROLE OF CHANCE: Considering singletons and twins as one group, the sex ratio (?/?) was significantly lower for children born after TPT (0.89) compared with conventional IVF (1.11; P = 0.017) but did not differ significantly when compared with ICSI with ejaculated sperm (0.94) and NC (1.05). The mean birthweight (BW) for singletons did not differ significantly between groups when including only first-born children. The mean gestational age (GA) in the TPT singletons (279 ± 12 days) was significantly higher compared with IVF (276 ± 18 days; P = 0.02), but similar to ICSI with ejaculated sperm and NC singletons when including only first-born children (277 ± 16 days and 279 ± 14 days, respectively). Rate of stillbirths, perinatal and neonatal mortality in the group of TPT singletons did not differ significantly from any of the control groups. Comparable results were found for the TPT twin group, except for perinatal mortality, which was significantly lower in the TPT group compared with naturally conceived twins. The adjusted risk of LBW was significantly higher for TPT versus NC singletons [adjusted odds ratio (AOR) = 0.67 (0.48-0.93)]; however AOR for PTB was similar in the two groups. Regarding twins, similar adjusted risks were observed for PTB and LBW between the TPT and all three control groups. Significantly more Caesarean sections were performed after IVF (27.3% for singletons) and ICSI (25.1% for singletons) with ejaculated sperm compared with the TPT group (16.4% for singletons). The total rate of congenital malformations in the TPT group was 7.7% and did not differ significantly from any of the control groups. However, singleton TPT boys showed an increased rate of cardiac malformations (3.6%) compared with singleton boys after IVF (1.4%; P = 0.04) and NC (1.1%; P = 0.02). Considering the level of male infertility as a continuum over the four groups, tests for variance in the rate of cardiac malformations in singleton boys, and undescended testic

Todt I, Mazereeuw-Hautier J, Binder B, Willems PJ. Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. The Keratitis-Ichthyosis-Deafness syndrome (KIDS) is an autosomal dominant ectodermal dysplasia characterized by ocular, skin, and ear anomalies, including keratitis, palmoplantar keratoderma, and congenital hearing loss. Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete or partial agenesis of the vermis and cystic dilatation of the fourth ventricle. The association of KID syndrome with DWM has been reported a few times, but thought to be coincidental. We report 4 a...

Thirty-six cases of femoral lengthening using the Albizzia nail were performed. The indication for lengthening was a congenital malformation, sequellae of trauma, of infection, of radiation therapy, short stature, and vascular malformation. The mean age of the patients was 16 years, the average lengthening achieved was 4.7 cm, and the follow-up period averaged 5.8 years. We found that bone consolidation was achieved faster than with external fixation. The patient's comfort during lengthening as well as the speed of functional restoration also improved. In three cases, the program failed, in six the lengthening was achieved with a second procedure, and eight patients required one ratcheting or more under general anesthesia. In our experience, the Albizzia nail is a simple and effective solution for uncomplicated femoral lengthening. PMID:22643127

A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird-headed appearance, pre- and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat-like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX,rec(5),dupq,inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY,inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome. PMID:6478641

We aimed to investigate the epidemiological determinants, clinical features, and genetic pattern of FOP in our country by evaluating the entire population of patients identified according to a combination of methods. To achieve this, 24 individuals were confirmed as FOP cases, 17 of whom were alive at the end of 2011 (point prevalence=0.36x10^-^6). The gender distribution (male/female ratio=13/11) and the concurrent range of ages (from 4 to 53years; mean+/-SD: 30.2+/-13.8) are in agreement with similar reports. Twenty-one (87.5%) had characteristic congenital malformations of the big toe, and short thumbs were found in 65.2% of cases. In addition, other skeletal malformations such us fusion of the posterior elements of the cervical spine (89.0%), knee osteochondromas (71%), scoliosis (54.5...

A 57-year-old man presented with subarachnoid hemorrhage due to the rupture of an arteriovenous malformation (AVM) located at the base of the root of the right trigeminal nerve. In contrast to previous similar cases, his history included no evidence of trigeminal neuralgia or sensory loss. Right vertebral artery angiography revealed a doubled superior cerebellar artery feeding the angioma nidus. The patient refused radiotherapy and preferred surgical treatment. Intraoperatively, a close relationship between arterial feeders and rootlets of the trigeminal nerve was observed. Complete removal of the malformation was achieved and confirmed angiographically. The postoperative course was complicated by subdural hygroma that required repeated drainage and eventually a shunting procedure. This case demonstrates that microsurgical treatment of a trigeminal AVM is feasible. However, stereotactic radiosurgery may be the preferred treatment option considering the potential for postoperative complications.   

Abstract in spanish El síndrome de Goldenhar es una rara condición, de aparición esporádica, y con componente genético débil. Se caracteriza por un espectro de malformaciones faciales, especialmente deformaciones oculares (ausencia o hipotrofia ocular) y malformaciones auriculares, que característicamente comprometen una hemicara, con presencia o ausencia de anomalías vertebrales. Se presenta un caso clínico de la asociación de Síndrome de Goldenhar y embarazo Abstract in english Goldenhar syndrome is a rare condition of sporadic appearance and with a weak genetic component. Is characterized by face malformations, especially ophthalmologic (ocular absence or hypotrophy) and auricular malformations, that characteristically jeopardizes one hemiface, with presence or absence of vertebral anomalies. We presented a case of the association of Goldenhar syndrome and pregnancy

The technique, diagnostic results and significance as well as limitations of selective spinal angiography differential diagnosis of vertebro-spinal tumors and vascular malformations are described. By this angiographic examination, important preoperative information of exact size, extent and localisation of the neoplasms, the vascular supply and their topographical relation to the anterior spinal artery can be obtained. In spinal vascular malformations is the best method. Arterial embolisation of vascularised tumors or haemangiomas can be indicated to reduce the risk of intraoperative bleeding. But also without subsequent surgery, it may be performed in vertebral haemangiomas as curative or in malignancies as palliative treatment for compression of the spinal cord or of spinal nerve roots, as demonstrated by some examples.

PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia. We now report on PITX1 deletions in two fetuses with a high-degree polydactyly, that is, mirror-image polydactyly. Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35?bp deletion in PITX1. The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long b...

Abstract in portuguese 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: (more) 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 (more) 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.

Abstract in spanish La mayor disponibilidad y calidad de la ecografía prenatal ha llevado a un incremento en el diagnóstico in útero de malformaciones congénitas, siendo, además del tratamiento estandarizado postnatal o de la terminación del embarazo, varias las consecuencias terapéuticas: modificación del lugar del parto (centro de cuidado terciario), modo del parto (sección cesárea) y duración de la gestación (parto prematuro). Casos muy seleccionados, en los que el progreso de (more) la gestación causa deterioro progresivo de los órganos afectados, llevando a danos irreversibles e incompatibles con la vida extrauterina, se consideran como candidatos potenciales para cirugía fetal. Ejemplo de ellos son la uropatía obstructiva bilateral extrema, el teratoma sacrococcígeo gigante, la malformación adenomatoidea quística congénita pulmonar y la hernia diafragmática congénita. En la presente revisión se discute la fisiopatología de estas malformaciones y las estrategias terapéuticas fetales, al igual que los resultados obtenidos y las perspectivas futuras. Abstract in english Advances in prenatal ultrasound have lead to an increase in antenatal diagnosis of congenital anomalies. Potential consequences of prenatal diagnosis include, besides standardized postnatal treatment and termination of pregnancy, modification of the timing of gestation, mode and place of delivery. In selected cases, were progression of gestation leads to an irreversible damage of the affected organs incompatible with postnatal life, fetal treatment may be an option. Examp (more) les of such malformations are extreme bilateral obstuctive uropathy, giant sacrococcigeal teratoma, congenital cystic adenomatoid malformation of the lung and congenital diaphragmatic hernia. The present review discusses physiopathology of these malformations as well as strategies of fetal treatment, results and future perspectives.

Abstract in spanish Se reportó el caso de un recién nacido, hijo de madre secundigesta, con una malformación congénita del cuero cabelludo, del tipo aplasia cutis congénita. Se describieron las características clínicas de ésta, su evolución, pronóstico y tratamiento. Se hizo énfasis en el cuidado y la prevención de las complicaciones, fundamentalmente infecciosas, en este tipo de neonatos Abstract in english The case of a newborn, son of a secundigravida, with a congenital malformation of the scalp denominated aplasia cutis congenita is reported. Its clinical characteristics, evolutions, prognosis and treatment are described. Emphasis is made on the care and prevention of the complications, mainly infectious, in this type of neonates

Congenital hypothyroidism is mainly due to structural defects of the thyroid gland, collectively known as thyroid dysgenesis. The two most prevalent forms of this condition are abnormal localization of differentiated thyroid tissue (thyroid ectopia) and total absence of the gland (athyreosis). The clinical picture of thyroid dysgenesis suggests that impaired specification, proliferation and survival of thyroid precursor cells and loss of concerted movement of these cells in a distinct spatiotemporal pattern are major causes of malformation. In normal development the thyroid primordium is first distinguished as a thickening of the anterior foregut endoderm at the base of the prospective tongue. Subsequently, this group of progenitors detaches from the endoderm, moves caudally and ultimately...

Cor triatriatum is a rare congenital cardiac malformation characterized by a fibromuscular membrane that divides the left atrium into two distinct chambers. In almost all cases, it is diagnosed in childhood, whereas adult cases are extremely rare. Herein, we describe an unusual case of cor triatriatum in a 55-year-old woman who presented with embolic cerebral infarction. The patient experienced sudden-onset, transient left-sided homonymous hemianopsia and echocardiography and multidetector computed tomography detected a membrane-like structure across the left atrium, confirming the diagnosis of a cor triatriatum. The laboratory examination for hypercoagulopathy was negative. She was conservatively treated with anticoagulation and her neurological manifestation gradually improved.   

The wandering spleen is a rare, congenital malformation, which may pose diagnostic difficulties particularly in differentiating the wandering spleen from other abdominal masses. The diagnostic modalities of choice are contrast-enhanced CT and MRT, and scintigraphy with labelled eryhtrocytes for selective detection of splenic parenchyma. (orig./MG) [German] Dystopien der Milz sind seltene kongenitale Anomalien, die differential-diagnostische Probleme bezueglich der Abgrenzung zu anderen abdominellen Raumforderungen bereiten koennen. Die Diagnostik stuetzt sich in erster Linie auf die Schnittbildverfahren CT und MRT nach Kontrastmittelgabe, wobei die Szintigraphie mit alterierten Erythrozyten den selektiven Nachweis von Milzparenchym erlaubt. (orig.)

Multiseptate gallbladder is one of the rare congenital malformations of the gallbladder. We present clinical and ultrasonographic findings in seven patients with multiseptate gallbladder. One of them had nausea and right upper quadrant pain, three had recurrent abdominal pain, while the remaining three patients had no symptoms, physical finding and laboratory abnormality which could be attributable to the biliary system. In patients with multiseptate gallbladder, disturbed motility of the gallbladder may be an etiopathogenetic factor for stasis of bile flow and in turn for development of cholelithiasis, cholecystitis and right upper quadrant pain.   

Malformation of the aortic arch system has been described in details by Stewart et al. in 1964. Innominate artery originating via the ductus arteriosus from the pulmonary artery is a very rare type of congenital aortic arch anomaly that has been seldomly reported. We report the case of an aortic arch anomaly revealed by a pulmonary hypertension because of left to right shunt. Surgical procedure was performed through a median sternotomy, without cardiopulmonary bypass. After section. of the ductus arteriosus, the left innominate artery was extensively dissected and mobilized to be implanted on the left side of the ascending aorta under lateral clamping. PMID:19361621

Objective To report the high-resolution computed tomography and magnetic resonance imaging (MRI) findings of a bulging oval window in children with recurrent meningitis and congenital cerebrospinal fluid fistula. Study Design Case series. Setting Academic medical center children's hospital. Subjects and Methods A series of eight ears in four children with profound, bilateral sensorineural hearing loss and perilymphatic hydrops were evaluated. Two patients presented with recurrent meningitis. All children were assessed with high-resolution computed tomography, and two children also underwent MRI. Results Seven of eight ears had a common cavity malformation. The vestibular compartment showed severe dysplasia (n = 5), moderate dysplasia (n = 1), or a single semicircular canal (n = 2). The lam...

Abstract in english Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases). Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of c (more) ardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

Distal villous immaturity (DVI) is a placental phenotype characterized by enlarged distal villi with excessive stroma, hypercellular villous trophoblast, paucity of vasculosyncytial membranes, and a decreased fetoplacental weight ratio. It is predominantly observed in term or near-term placentas and is associated with specific maternal conditions including impaired glucose tolerance, obesity, and excessive pregnancy weight gain. A similar phenotype is observed in placentas with hypercoiling of the umbilical cord. DVI is also occasionally seen in the placentas of preterm infants with idiopathic fetal growth restriction, congenital malformations, and genetic or chromosomal abnormalities. In infants of diabetic mothers, DVI may in part be a consequence of excessive maternal glucose leading to...

AbstractBACKGROUND Cancer is the second leading cause of death among women of reproductive age. Although the coincidence of pregnancy and cancer is rare and treatment may sometimes be safely delayed, the use of chemotherapeutic agents in pregnancy is sometimes unavoidable or inadvertent. METHODS We review the literature for the use of antineoplastic agents in single-agent and combination therapy from 1951 through June 2012. We also summarize the evidence relating to teratogenicity of disorder-specific combination chemotherapy treatments for those malignancies frequently encountered in women of childbearing age. Major endpoints were called -adverse pregnancy outcomes- (APOs), to include structural anomalies (congenital malformations), functional defects, blood or electrolyte abnormalities, ...

Background: Congenital vesicovaginal fistula (VVF) is a very uncommon condition rarely suspected at initial presentation. It is usually seen in association with complex malformations of the genitourinary tract. Case: A bifid insertion of the solitary ureter causing an uretero-VVF was associated with an obstructing transverse vaginal septum manifesting as menouria. Also seen were solitary crossed renal ectopia, bicornuate uterus and skeletal anomalies. Conclusion: In women with menouria without vaginal menstruation, pre-operative evaluation to detect an obstructive vaginal anomaly and unusual uretero-vesicovaginal fistulous communications is necessary before surgical intervention. PMID:19955683

Abstract in english The renal lesions are of special importance in the captive primates. The most commonly pathologies are: pyelonephritis, nephrocalcinosis, glomerulonephritis, congenital malformations, hydronephrosis and functional diseases. We report the histopathological study of renal lesions of five cases of deaths in Cebus apella (Primates) of the Argentinean Primate Center. The ages of the monkeys were from 4 months to 15 years old. Microscopically, we have observed principally acute (more) diffuse proliferative glomerulonephritis, hilar mesangio proliferative glomerulonephritis, extracapilar glomerulonephritis with crescents, chronic interstitial nephritis and chronic pyelophritis.

Lipomas are rare intracranial lesions and are generally thought to be asymptomatic. The vast majority of intracranial lipomas are viewed as incidental findings on imaging studies and treated conservatively. Intracranial lipomas are frequently accompanied by additional intracranial congenital malformations, but only rarely has an association with subcutaneous lipomas been described. We report an infant with a subgaleal lipoma in the region of the anterior fontanelle connected to a large interhemispheric (pericallosal) lipoma via a tiny lipomatous stalk. Because of this association, infants who present with a subcutaneous lipoma of the scalp might be considered for MR imaging to evaluate for an intracranial component. (orig.)

Agenesis of the inferior vena cava, especially of the infrarenal segment, is exceptional. This condition is thought to result from thrombosis during gestation rather than from a true congenital malformation. Agenesis of the inferior vena cava can be associated with renal vein thrombosis, which in turn is related to suprarenal hemorrhage in the fetus. We present a case of agenesis of the inferior vena cava with preservation of the hepatic segment, thrombosis of the left renal vein, and secondary bilateral suprarenal hemorrhage diagnosed prenatally using sonography and magnetic resonance imaging. PMID:21353688

Prenatal heart valve interventions aiming at the early and systematic correction of congenital cardiac malformations represent a promising treatment option in maternal-fetal care. However, definite fetal valve replacements require growing implants adaptive to fetal and postnatal development. The presented study investigates the fetal implantation of prenatally engineered living autologous cell-based heart valves. Autologous amniotic fluid cells (AFCs) were isolated from pregnant sheep between 122 and 128 days of gestation via transuterine sonographic sampling. Stented trileaflet heart valves were fabricated from biodegradable PGA-P4HB composite matrices (n = 9) and seeded with AFCs in vitro. Within the same intervention, tissue engineered heart valves (TEHVs) and unseeded controls were imp...

This second part shows that its interpreted correctly diagnostic plain film radiology may contribute important information to an often complicated differential diagnosis of complex angiocardiopthies exemplified here by various subforms and types of pulmonary and tricuspid atresias. Diagnostic plainfilm radiology, however, is just one part of total preliminary cardiological diagnostics. In many cases of congenital heart and vessel malformations, it is of great diagnostic value in the practical medical environment and does not compete with echo cardiography especially in easy diagnoses like that of lung perfusion.

Introduction: Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal dominant congenital disorder defined by branchial defects, ocular anomalies and craniofacial malformations, including variable degrees of cleft lip with or without cleft palate. In addition, temporal bone anomalies, renal and ectodermal manifestations can be present. Mutations in the TFAP2A gene have been reported in patients with BOFS, prompting phenotype-genotype studies because of the variable clinical spectrum. Materials and Methods: We report on a family (a mother, her daughter and son) with BOFS and significant variability in clinical expression. The daughter presents predominantly with an ocular phenotype of unilateral microphthalmia and bilateral chorioretinal colobomas, whereas her brother is more severely aff...

ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents. (orig.)

Abstract Aortopulmonary window (APW) is a rare congenital heart malformation. It refers to a connection between the ascending aorta and the pulmonary trunk before bifurcation. We report a case of APW that was detected by prenatal fetal echocardiography. The diagnosis was confirmed postnatally with an additional partial anomalous pulmonary venous connection. Corrective surgery was performed at the age of 1 week. Prenatal diagnosis of APW is important because an operation early after birth is required to prevent congestive heart failure due to high pulmonary blood flow. It is essential to visualize the aortopulmonary septum during fetal echocardiographic examination. 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011

A case of subarachnoid hemorrhage due to a ruptured anterior communicating artery aneurysm, with a polycystic liver and a polycystic kidney, is reported. It is known that intracranial aneurysm is often accompanied by a polycystic liver, a polycystic kidney, and a cystic pancreas, but reports on and etiological research into such cases are rarely found. The cause for the development of an intracranial aneurysm is considered not to be congenital abnormalities and malformations but to be hypertension due to renal dysfunction. An abdominal CT scan in cases of intracranial aneurysm might detect more cases of a polycystic liver, a polycystic kidneys, and a cystic pancreas.

Summary Langlois PH, Brender JD, Suarez L, Zhan FB, Mistry JH, Scheuerle A, Moody K. Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring. Paediatric and Perinatal Epidemiology 2009; 23: 321-331. Most studies of the relationship between maternal residential proximity to sources of environmental pollution and congenital cardiovascular malformations have combined heart defects into one group or broad subgroups. The current case-control study examined whether risk of conotruncal heart defects, including subsets of specific defects, was associated with maternal residential proximity to hazardous waste sites and industrial facilities with recorded air emissions. Texas Birth Defects Registry cases were linked to their birth or fetal d...

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of 4500 women. It is characterized by the congenital absence of the upper third of the vagina, uterus and tubes; it is usually associated to renal malformations, and patients show normal phenotype and genotype. Age at diagnosis is between 15 and 18. A case is reported and a critical review of the information about the management alternatives of patients with MRKH syndrome available in medical literature is made. The paper is intended to help establish the best criteria and treatment options for a comprehensive therapeutic approach to MRKH patients. PMID:22916641

Three Holstein sires were identified as complex vertebral malformation (CVM) carriers using the polymerase chain reaction-primer introduced restriction analysis (PCR-PIRA) method. Using the carriers as positive controls, the PCR mismatch amplification mutation assay (MAMA PCR) method was developed and validated by sequence analysis. With MAMA PCR, 154 Chinese Holstein sires were tested for CVM, among which 24 were confirmed to be CVM carriers. With DNA isolated from hair follicles, 10 daughters of one CVM-positive bull were detected, among which 7 were confirmed to be CVM carriers. PMID:22529127

Purpose Vertebral hemangioma (VH) is virtually vascular malformation, which is usually asymptomatic. Only 3.7?% of VH may become active and symptomatic, and 1?% may invade the spinal canal and/or paravertebral space. Treatment protocols for active or aggressive VHs are still in controversy. Reported treatments include radiotherapy, vertebroplasty, direct alcohol injection, embolization, surgery and a combination of these modalities. Methods A 41-year-old lady was presented with 18?month history of intermittent back pain. CT revealed T5 osteolytic lesion with epidural and paravertebral extension. The first CT guided biopsy yielded little information. Results Histopathological diagnosis of the second biopsy was VH. Vertebroplasty, posterior decompression and fixation were performed followed ...

Hemimegalencephaly (HME) is a rare congenital malformation of the brain, grossly characterized by enlargement and overdevelopment of one cerebral hemisphere. We describe a 16-month-old patient with facial asymmetry caused by congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral HME. Although HME has been described as part of different syndromic diseases, the association of HME with CILF has been rarely reported. Our case and literature review suggest that when the diagnosis of CILF is suspected or established, the possible presence of associated HME has to be considered and a magnetic resonance imaging (MRI) must be performed even in absence of neurological features, not always present in early stages. MRI also demonstrates the involvement of intracranial structures outside the affected cerebral hemisphere, such as brain stem, cerebellum, cranial nerves, and blood vessels. In our patient, computed tomography of the brain provided detailed information on osseous hypertrophy and skull-base foramina enlargement. PMID:22991064

The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

Abstract Objective: To report a case of congenital pelvic arteriovenous malformation (pAVM) with urinary retention. Clinical Presentation and Intervention: A 39-year-old male patient presented with inability to void urine for 8 h. He did not have a history of dysuria or fever, but had increasing urinary frequency and difficulty in voiding over 2 years. Examination revealed a suprapubic mass without external signs of vascular anomaly. A huge, soft, irregular, non-pulsating mass was felt rectally. This mass did not disappear on urinary bladder decompression. Subsequent ultrasound and CT scan revealed pAVMs filling most of the pelvic cavity. Conclusion: To our knowledge, this is the first report of a male patient with congenital pAVM presenting with urinary retention, emphasizing the need for...

Background Median sternotomy has been the conventional approach for correction of congenital cardiac defects despite poor cosmetic results at times. Right anterior minithoracotomy was, therefore, assessed as an alternative procedure with a better cosmetic outcome. Methods From October 2002 through February 2007, 75 patients underwent correction of congenital cardiac malformations with the use of cardiopulmonary bypass through right anterior minithoracotomy involving a short incision through the fifth intercostal space and the minimally invasive cannulation. Of them, 18 patients were infants, 42 were children, and 15 were adult. The average age was 9.26 ± 14.1 years (range, 1.2 to 56). The average weight was 19.59 ± 24.3 kg (range, 8.5 to 118 kg). The corrected defects include...

In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that has been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal fusion, for a frequency of 1/1,011,577. One had the isolated defect, and the other one that we are describing here, had an MCA pattern similar to that described by Pfeiffer and Kapferer [1988]. We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome.

In 1965, Helen Taussig traced the evolution of knowledge of congenital heart disease (CHD) during the 20th century, beginning with the William Osler-Maude Abbott lineage at McGill University in Montreal, Canada. Osler encouraged Abbott in her CHD pathologic observations. Abbott's London Exhibit (1934) preceded her classic text Atlas of Congenital Cardiac Disease (1936). Taussig's friendship with Abbott (1935) began in Boston; Abbott brought Taussig to meet Paul Dudley White whose text Heart Disease (1931) featured Abbott's work. Taussig visited Abbott (Montreal 1938). Abbott's statistical approach was based on post-mortem malformations; Taussig's concern was why CHD babies died. Abbott (1927) suggested surgery for a patent ductus arteriosus; Taussig conceived of creating a patent ductus ar...

Congenital arteriovenous fistulae (AVF) of the internal maxillary artery (IMA) are rare. We present the angiographic findings and management of six AVF of the IMA, selected from 147 patients with facial vascular malformations. The fistula was thought to be congenital in all six in view of a life-long history, with no recorded trauma. Our analysis included angioarchitecture, treatment modality, embolic material, treatment results and follow-up. All patients had angiography showing an AVF originating from the IMA and draining to the jugular vein. Five patients underwent endovascular treatment with detachable balloons; a combination of Guglielmi detachable coils and N-acetyl-2-cyanoacrylate (NBCA) was used in one child. We successfully closed the AVF in all cases, without procedure-related complications, except for delayed transient facial numbness in one patient. No recurrence was observed on follow-up of 5 months to 7 years (mean 44 months). (orig.)

Frontonasal dysplasia (FND) is a rare syndrome characterized by malformations of the central portion of the face, especially of the forehead, nose, and philtrum. FND is associated with hypertelorism, a hidden encephalocele, and a cleft of the nose. Occasionally, affected individuals also experience abnormalities of the brain and craniofacial bones. In such cases, a frontal lipoma or calcification of the falx cerebri suggest the existence of a lipoma of the corpus callosum. We present the case of a male newborn with a congenital lipoma 15 mm in size located in the medial frontal line. Magnetic resonance imaging confirmed complete agenesis of the corpus callosum. While there is controversy about the association of frontal lipoma and lipoma of the corpus callosum and FND, we believe our case supports the concept that the changes are due to the same underlying pathogenic mechanism. Therefore, we recommend imaging of the central nervous system in newborns with a congenital lipoma located in the craniofacial midline. PMID:21906151

Abstract Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterotopic ossification (HO) and caused by heterozygous activating mutation of the ACVR1 gene, which encodes the ALK2 receptor for bone morphogenetic proteins. Early adult life is the latest reported presentation for the HO of FOP. The patient of our report first developed HO from FOP at 47 years of age. She had congenital hallux valgus deformity but despite various traumas was previously well. HO began several months after a brief, seemingly viral, illness. Sudden and progressive pain, redness, warmth, and swelling appeared over a scapula. Computed tomography was remarkable for asymmetrical thickening of muscles and fascial planes. At fir...

Objective:Birth defects are number one cause of death among infants below 1 year of age. The objective is to examine the interaction of sex, race/ethnicity and place of birth on the prevalence of major congenital birth anomalies.Study Design:We analyzed the data sets produced by the Healthcare Cost and Utilization Project (HCUP) for the years 1997–2004. We identified the malformations: congenital diaphragmatic hernia (CDH), abdominal wall defects (AWD) and neural tube defects (NTD) using their respective International Classification of Disease 9 diagnostic codes. Newborns were classified according to their birth region into four groups; Northeast, South, Midwest and West. We calculated prevalence of each disease for the overall sample then for every sex, race and birth region. Using ...