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Sample records for arthrogryposis

  1. Arthrogryposis - case report

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    Mariana CEVEI

    2008-05-01

    Full Text Available Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth. We present the case of a 3.5 year-old girl with multiple congenital defects: arthrogryposis involving bilateral hip, knee and ankle joints, together with sacral agenesis and with lumbar dysmorphism, anorectal agenesis, hydronephrosis of the left kidney as the result from reflux, right kidney hypoplasia, renal fusion and heart anomalies: tetralogy of Fallot. Immediately after birth, in several steps, colostomy, left ureterocystoneostomy and suprapubic cystostomy were performed. Later in infancy corrective surgery for the heart defect was required. At the age of 2 years, surgery for the equinovarus deformities and for left genu flexum was performed. Medical rehabilitation tries to maximize independent function. The main goals were increasing the muscle tonus of upper-limbs, increase the rate of motion of the joints, establishment of stability for ambulation, learning different schemes of movement according to her needs, obtaining of a functional independency. The therapies were successful, after 10 weeks an improvement of the moving capacity and of the transfer in orthostatism with minimal external assistance, with the obvious increasing of the patient's satisfaction, were noticed.

  2. Arthrogryposis as a Syndrome: Gene Ontology Analysis.

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    Hall, Judith G; Kiefer, Jeff

    2016-07-01

    Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried to place the known mutated genes seen in genetic forms of arthrogryposis into biological processes or cellular functions as defined by gene ontology. We hope this leads to better identification of all interacting pathways and processes involved in the development of fetal movement in order to improve diagnosis of the genetic forms of arthrogryposis, to lead to the development of molecular therapies, and to help better define the natural history of various types of arthrogryposis. PMID:27587986

  3. Characterization of a group unrelated patients with arthrogryposis multiplex congenita

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    Margarita Valdés-Flores

    2016-02-01

    Full Text Available ABSTRACT OBJECTIVE: Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS: Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULTS: Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.. Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted. CONCLUSIONS: It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.

  4. Congenital Zika syndrome with arthrogryposis: retrospective case series study

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    Filho, Epitacio Leite Rolim; Lins, Otavio Gomes; Aragão, Maria de Fátima Viana Vasco; Brainer-Lima, Alessandra Mertens; Cruz, Danielle Di Cavalcanti Sousa; Rocha, Maria Angela Wanderley; Sobral da Silva, Paula Fabiana; Carvalho, Maria Durce Costa Gomes; do Amaral, Fernando José; Gomes, Joelma Arruda; Ribeiro de Medeiros, Igor Colaço; Ventura, Camila V; Ramos, Regina Coeli

    2016-01-01

    Objective To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. Design Retrospective case series study. Setting Association for Assistance of Disabled Children, Pernambuco state, Brazil. Participants Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. Main outcome measures Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. Results The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. Conclusions Congenital Zika syndrome should be added to the differential diagnosis of congenital

  5. Surgical treatment of scoliosis in a rare disease: arthrogryposis

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    Maredi Elena

    2010-11-01

    Full Text Available Abstract Background The reported incidence of scoliosis in arthrogryposis varies from 30% to 67% and, in most cases, the curves progress rapidly and become stiff from early age. The authors report six cases of scoliosis in arthrogryposis to assess the role of surgical treatment. Methods Six cases (3 males, 3 females; mean age at surgery 13.2 years with arthrogryposis multiplex congenita associated with the characteristic amyoplasia were reviewed: they were operated on for scoliosis at the authors' Spine Surgery Department between 1987 and 2008. Surgery was performed using the Harrington-Luque instrumentation (2 cases, the Luque system (1, a hybrid segmental technique with hooks and screws (1 and spinal anchoring with pedicle screws (2. Results The patients were clinically and radiologically reviewed at a mean follow-up of 4.2 years, ± 2.7 (range, 1 to 9 years. Three minor postoperative complications were encountered; a long-term pulmonary complication was seen in one case after reintervention and was successfully resolved after 10 days. Surgery was successful in the other 5 cases, where solid arthrodesis was achieved and no significant curve progression was observed at follow-up. Conclusions The experience acquired with the present case series leads the authors to assert that prompt action should be taken when treating such aggressive forms of scoliosis. In case of mild spinal deformities in arthrogryposis, brace treatment should be attempted, the evolution of the curves being unpredictable; however, when the curve exceeds 40° and presents with marked hyperkyphosis, hyperlordosis or pelvic obliquity, surgery should not be delayed.

  6. Arthrogryposis multiplex congenita - a rare congenital stiff joints syndrome

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    Velisavljev-Filipović Gordana

    2006-01-01

    Full Text Available Introduction: Arthrogryposis multiplex congenita is not a disease but a term describing multiple congenital contractures. Etiological factors include neurological and primary myogenic diseases. This rare syndrome is present at birth and is characterized by reduced mobility of many joints. The contractures involve two or more joints with ankylosis. The accompanying musculature is hypoplastic, but multiple pterygia are also present. Arthrogryposis multiplex congenita is a heterogeneous group of disorders with the incidence rate of 6.2/100000 liveborn infants. The true incidence cannot be established, because many cases result in spontaneous miscarriages or stillbirth. More than 90% of cases are associated with birth defects. The cause of this syndrome is unknown. Many forms are not hereditary, though there are hereditary forms as well. Case report. This paper presents a case with arthrogryposis multiplex congenita. The pregnancy was not controlled regularly. During the pregnancy, oligohydramnion was detected. Due to contractures, labor ended is cesarean section. The child was born in the 34th week of gestation. Flexion and extension joint contractures were observed. Active and passive mobility of the afflicted joints was reduced. There was a limited motor function in the shoulder, elbow and wrist joints with a slight internal rotation of the shoulder joint and lower arm joints during pronation. The hips were subluxated; the feet were in equinovarus position and the fingers in ulnar deviation with partial syndactyly of the 4th and 5th fingers on the left hand. The infant had abnormal dermatoglyphics. The neck was short, and the 2nd and 3rd cervical vertebrae were fused. There was also a slight left-sided thoracic scoliosis. Trismus was present due to the existing ankylosis of the temporomandibular joint. The karyotype was normal. The serum creatinine phosphokinase was slightly elevated. The electromyographic picture indicate non-specific signs of

  7. Results of the Ponseti Method in Patients with Clubfoot Associated with Arthrogryposis

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    Morcuende, Jose A.; Dobbs, Matthew B.; Frick, Steven L.

    2008-01-01

    Clubfoot associated with arthrogryposis has been traditionally considered very resistant to manipulation and casting, and therefore has required surgical correction. The purpose of this study was to evaluate the results of the Ponseti method of clubfoot casting in this patient population. We reviewed the records of patients with clubfoot associated with arthrogryposis consecutively treated at our respective institutions from January 1992 to December 2004. All patients were treated by serial m...

  8. Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5.

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    Murphy, Angela M; MacHugh, David E; Park, Stephen D E; Scraggs, Erik; Haley, Chris S; Lynn, David J; Boland, Maurice P; Doherty, Michael L

    2007-01-01

    Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance. Two affected homozygous recessive (art/art) Suffolk rams were used as founders for a backcross pedigree of half-sib families segregating the IOA trait. A genome scan was performed using 187 microsatellite genetic markers and all backcross animals were phenotyped at birth for the presence and severity of arthrogryposis. Pairwise LOD scores of 1.86, 1.35, and 1.32 were detected for three microsatellites, BM741, JAZ, and RM006, that are located on sheep Chr 5 (OAR5). Additional markers in the region were identified from the genetic linkage map of BTA7 and by in silico analyses of the draft bovine genome sequence, three of which were informative. Interval mapping of all autosomes produced an F value of 21.97 (p < 0.01) for a causative locus in the region of OAR5 previously flagged by pairwise linkage analysis. Inspection of the orthologous region of HSA5 highlighted a previously fine-mapped locus for human arthrogryposis multiplex congenita neurogenic type (AMCN). A survey of the HSA5 genome sequence identified plausible candidate genes for both IOA and human AMCN.

  9. Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita : three new cases and review of the literature

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    Sombekke, B H; Molenaar, W M; Essen, A J van; Schoots, C J

    1994-01-01

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multipl

  10. Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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    Eduardo Felix Martins Santana; Priscila Nogueira Oliveira Serni; Liliam Cristine Rolo; Edward Araujo Júnior

    2014-01-01

    Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28 th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled ap...

  11. Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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    Eduardo Felix Martins Santana

    2014-01-01

    Full Text Available Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28 th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

  12. Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

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    Čulić, Vida; Miyake, Noriko; Janković, Sunčana; Petrović, Davor; Šimunović, Marko; Đapić, Tomislav; Shiina, Masaaki; Ogata, Kazuhiro; Matsumoto, Naomichi

    2016-01-01

    Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression. PMID:27790376

  13. ULTRASOUND GUIDED ILIOINGUINAL AND ILIOHYPOGASTRIC NERVE BLOCK FOR INGUINAL HERNIA REPAIR IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

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    Paul O.

    2015-06-01

    Full Text Available Arthrogryposis multiplex congenita (AMC refers to a syndrome of unknown etiology with multiple congenital contractures in one or more joints with a concomitant inability of passive extension and flexion . The overall prevalence of arthrogryposis is one in 3000 live births . The extensive contractures , tense skin , minimal muscle mass and subcutaneous tissue pose challenges in anaesthetic management. We report a seven year old boy (15 kg , known case of AMC with congenital talipes equino varus (CTEV and bilateral hip dislocation posted for right sided herniot omy and orchidopexy. We planned to combine general anaesthesia without muscle relaxants and regional nerve block. The child was induced with propofol and Classic LMA Size 2 was inserted. An ilioinguinal and i liohypogastric nerve block was given under ultrasound guidance using 0.2% ropivacaine. Pateint remained hemodynamically stable during surgery with minimal anaesthetic requirement and no anlgesics. Analgesia lasted for 8 hours postoperatively. Combining narcosis with regional anaesthesia leads to a reduced demand for anaesthetics , stable circulatory conditions , maintenance of spontaneous breathing , prevention of stress and sufficient postoperative analgesia

  14. Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

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    K. M. Usrey

    2014-01-01

    Full Text Available The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features. We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.

  15. Arthrogryposis Multiplex: A Case Report La artrogriposis múltiple: a propósito de un caso

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    Diego Alexis Blanco Manso

    2012-11-01

    Full Text Available Congenital muscular dystrophies appear from birth or early infancy with hypotonia and loss of proximal or generalized muscle strength. Contractures at birth are called arthrogryposis. Arthrogryposis multiplex is a disorder that is identified by congenital stiffness of one or more joints, caused by hypoplasia of the muscles in the region and also by an incomplete fibrous ankylosis. Some experts have attributed the disease to a prolonged intrauterine compression, but others propose that it is more likely that the syndrome originates from an early period of embryonic life. We report a case of arthrogryposis multiplex with walking impossibility due to a broken kneecap. Through rehabilitation in the Specialized Outpatient Center, the patient achieves locomotion.Las distrofias musculares congénitas se presentan desde el nacimiento o los primeros meses de vida con hipotonía y pérdida de la fuerza muscular proximal o generalizada. A las contracturas presentes al nacer se les denomina artrogriposis. La artrogriposis múltiple es un trastorno que se identifica por la rigidez congénita de una o más articulaciones, causada por la hipoplasia de los músculos ubicados en la región y también por una anquilosis fibrosa incompleta. Algunos especialistas han atribuido esta enfermedad a una compresión intrauterina prolongada, en cambio otros plantean, que es mucho más viable que el síndrome se origine en un periodo temprano de la vida embrionaria. Se presenta un caso de artrogriposis múltiple con imposibilidad para la marcha producto de una fractura de rótula que a por medio de la rehabilitación en el Centro Especializado Ambulatorio logra la locomoción.

  16. Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

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    Tiemann, Christian; Bührer, Christoph; Burwinkel, Barbara; Wirtenberger, Michael; Hoehn, Thomas; Hübner, Christoph; van Landeghem, Frank K H; Stoltenburg, Gisela; Obladen, Michael

    2005-08-30

    We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded.

  17. Arthrogryposis in Murrah buffaloes in southern Brazil Artrogripose em búfalos Murrah no Sul do Rio Grande do Sul, Brasil

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    Ana Lucia Schild; Mauro P. Soares; Damé, Maria C.; Enrique L. Portianski; Franklin Riet-Correa

    2003-01-01

    Congenital arthrogryposis is described in a Murrah buffalo herd. The disease was characterized by curvature and multiple articular rigidity of the hindlimbs or of all limbs without associated defects except for one case of brachygnatia. Histologically there was reduction of motor neurons from the ventral horns of the spinal cord and hypoplasia of the limb muscles. Analysis of the herd breeding records suggests that the disease is genetically transmitted by an autosomal recessive trait.Artrogr...

  18. Diagnóstico pré-natal da artrogripose múltipla congênita: relato de caso Prenatal diagnosis of arthrogryposis multiplex congenita: a case report

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    Carlos Augusto Alencar Júnior

    1998-09-01

    Full Text Available A artrogripose múltipla congênita é caracterizada pela presença, ao nascimento, de múltiplas contraturas articulares. O diagnóstico pré-natal é difícil, existindo poucos relatos na literatura. Baseia-se, especialmente, na combinação de acinesia fetal, posição anormal dos membros, retardo de crescimento intra-uterino e polidrâmnio. Descrevemos um caso de artrogripose múltipla congênita diagnosticado pela ultra-sonografia no terceiro trimestre gestacional. Os principais achados foram a ausência de movimentação fetal, polidrâmnio e concepto com retardo de crescimento intra-uterino, tipo misto, com acentuada diminuição da circunferência abdominal e torácica, implantação baixa dos pavilhões auriculares, micrognatia, flexão contínua dos membros inferiores e superiores, rotação interna dos fêmures e pé torto à direita.Arthrogryposis multiplex congenita is characterized by multiple joint contractures present at birth. Prenatal diagnosis is difficult. There are few reports in the literature. Fetal akinesia, abnormal limb position, intrauterine growth retardation, and polyhydramnios are the main findings of the ultrasonographic diagnosis. The authors describe a case of arthrogryposis multiplex congenita ultrasonographically diagnosed in the third gestational trimester. The main findings were absence of fetal movements, polyhydramnios, symmetrical and non-symmetrical fetal growth retardation with marked decrease of abdominal and thoracic circumference, low-set ears, micrognathia, continuous flexure contracture of limbs, internal rotation of the femur, and clubfoot on the right.

  19. 铰链式外固定支架在治疗肘关节骨折术后僵硬中的应用%Application of Hinged External Fixator in the Treatment of Arthrogryposis of the Elbow

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    姜岳武; 毛兆光; 郭亮; 夏欣

    2014-01-01

    [目的]分析比较不同术式治疗肘关节骨折术后僵硬的临床疗效。[方法]2005年2月~2012年6月间43例肘部骨折术后继发关节强直僵硬患者,随机分为2组,其中应用铰链式外固定支架行肘关节松解术者23例为A组,常规肘关节松解者20例为B组。治疗后随访12~26个月,以关节活动度及肘关节功能评分评价疗效,并观察2组并发症发生情况。[结果]治疗后随访12~26个月,A组肘关节平均屈伸活动度达116.5度,肘关节功能评分85.7分;B组肘关节平均屈伸活动度达75.3度,肘关节功能评分61.5分,2组比较差异均有统计学意义(P<0.05)。术后并发症尺神经损伤B组2例,A组无;术后切口感染、皮下血肿、切口愈合不良B组3例,A组无。[结论]采用铰链外固定支架松解术治疗创伤后肘关节僵硬疗效显著,可有效增加僵硬肘关节的活动度及改善关节功能,并减少术后并发症的发生。%[Objective]To review the treatment of 23 cases of elbow arthrogryposis, summarize the experience of the treatment for elbow arthrogryposis releasing and application of hinged external fixator. [Methods] 23 cases of patients with elbow arthrogryposis underwent elbow arthrogryposis releasing and application of hinged external fixation. [Results]The patients with elbow flexion group mean maximum flexion improved from preoperative 20.1 ° to 110.2° after operation, limited group of patients mean maximum extension activity from preoperative 74.5 ° to 22.2° after operation, both flexion and extension in limited group, respectively from preoperative 45.3° and 52° degrees for the improvement of postoperative 20.2° and 100.2°. [Conclusion] With significant effect on treating the post-traumatic elbow arthrogryposis, the technique of treatment elbow arthrogryposis with Hinged external fixator also effectively increased the elbow maximum flexion activity as wel as elbow extension activity.

  20. Management of airway for scoliosis patients associated with arthrogryposis multiplex congenita%先天性多发性关节挛缩症伴脊柱侧凸患者气道管理

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    刘延军; 马正良; 顾小萍

    2015-01-01

    Objective To summarize the experience of management of airway in scoliosis patients associated with arthrogryposis multiplex congenita (AMC).Methods The medical records of twenty scoliosis patients associated with AMC undergoing spinal corrective surgery in our hospital were retrospectively reviewed.There were twelve male patients and eight female patients in our study.The age of patients averaged at (14.9±3.7) years, ranging from 9 to 24 years.The median degree of preoperative Cobb angle was 90 degrees, with the maximum Cobb angle of 147 degrees.The following data were recorded: the grade of Mallampati,the results of pulmonary function tests, whether it was difficult airway or not, the special instrument for intubation, whether it was admitted to intensive care unit (ICU) or not after surgery, and the time from end of surgery to tracheal extubation.Results The cases of Mallampati Ⅰ , Ⅱ, Ⅲ, and Ⅳ grade was 3 (15%), 9(45%), 5(25%), and 3(15%), respectively.All patients suffered from pulmonary dysfunction.The cases of mild, moderate and severe preoperative pulmonary dysfunction was 1 (5%), 4 (20%) and 15 (75%), respectively.Five patients with anticipated difficult airway were successfully intubated via fiber bronchoscope.After surgery,seven patients with difficult tracheal extubation caused by lung ventilation dysfunction were admitted to ICU to monitor vital signs closely.The time from end of surgery to tracheal extubation varied greatly, ranging from 10 min to 1 115 min.Conclusions The patient's airway should be thoroughly examined by the attending anesthesiologists during preoperative interview, whose attention should be focused on assessing difficult airway, especially for difficult intubation.The anesthetists should make well preparations for difficult airway, especially for difficult intubation, including emergency drugs, and special instruments for intubation.%目的 总结先天性多发性关节挛缩症(arthrogryposis multiplex

  1. The effect analysis of functional anaplasty in the position of arthrogryposis during the late period of super large burn%特大面积烧伤后期关节挛缩畸型部位功能整形后疗效分析

    Institute of Scientific and Technical Information of China (English)

    刘洪琪; 李德水; 侯晓华; 邢玉玺; 邢同义; 陈志军

    2002-01-01

    To discuss the effect of application of de cell xenoma dermal and chin auto- pachyderma in functional position anaplasty during the late period of super- large burn.Method To incise eschar and cograft of de- cell xenoma dermal and chin auto pachyderma on 15 arthrogryposis and deformation positions of 4 super- large burns and follow up for the effect regularly.Result 7 skin grafts were living entirely, 5 parts were healing in the short time by dressing change, 3 parts were healing by complement skingrafting,the mean survival rate of cograft was (94.9± 5.5)% .Conclusion The local appearance was smooth and well- arranged,the character was soft and the function was well.The effect was near to large- leaf auto intermediate split thickness skin graft and can reach the purpose of functional restoration.

  2. Redução cirúrgica da luxação do quadril em pacientes com artrogripose múltipla congênita: acesso anteromedial Open reduction of hip dislocation in patients with arthrogryposis multiplex congenita: an anteromedial approach

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    Luis Eduardo Munhoz da Rocha

    2010-01-01

    Full Text Available OBJETIVO: Avaliar os resultados do tratamento cirúrgico da luxação do quadril através do acesso anteromedial em pacientes com artrogripose múltipla congênita (AMC. MÉTODOS: Retrospectivamente foram revisados os prontuários e radiografias de sete crianças com AMC que apresentavam luxação do quadril, totalizando 10 quadris luxados. Foi avaliada a mobilidade articular pré e pós-operatória através da somatória do arco de mobilidade articular em flexão e abdução. Radiograficamente foram avaliados, no pré-operatório, o ângulo acetabular e a altura do colo do fêmur e, no pós-operatório, a continuidade do arco de Shenton, ângulo de Sharp e ângulo CE (centro borda. Quando foi identificada a necrose avascular, esta foi classificada segundo Ogden e Bucholz. RESULTADOS: A média de idade das crianças na ocasião da cirurgia era de 5,5 meses (três a 11 meses. O seguimento médio dos pacientes foi de 9,5 anos (dois a 13 anos. A média de amplitude de movimento da somatória do arco de mobilidade articular em flexão e abdução no exame pré-operatório foi de 108° (70 a 155° e no pós-operatório foi de 125° (75° a 175°. Na última avaliação, oito quadris estavam centrados e dois subluxados. Dois quadris foram submetidos a uma osteotomia de ilíaco do tipo Salter. Dois quadris apresentaram sinais significativos de necrose avascular Ogden tipo IV. Oito quadris foram considerados como bons resultados e dois como regulares. CONCLUSÃO: Consideramos a via anteromedial uma boa opção para tratamento da luxação de quadril em pacientes de baixa idade com artrogripose múltipla congênita.OBJECTIVE: To evaluate the results of the surgical treatment of hip dislocation through the anteromedial approach in patients with arthrogryposis multiplex congenita (AMC. METHODS: A retrospective review of the charts and radiographs of 7 children with AMC that presented dislocation of the hiprevised, totalling 10 dislocated hips. : Pre and

  3. Walking ability in patients with arthrogryposis multiplex congenita

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    Perajit Eamsobhana

    2014-01-01

    Conclusion: AMC is a rare disease that causes disability, requiring multiple surgeries to correct deformities. Our study showed that residual knee flexion contracture was associated with nonambulatory status of patients with AMC.

  4. Diagnóstico pré-natal da artrogripose múltipla congênita: relato de caso Prenatal diagnosis of arthrogryposis multiplex congenita: a case report

    OpenAIRE

    Carlos Augusto Alencar Júnior; Francisco Edson de Lucena Feitosa; Mac Gontei; Sammya Bezerra Maia; Dalgimar Beserra de Meneses

    1998-01-01

    A artrogripose múltipla congênita é caracterizada pela presença, ao nascimento, de múltiplas contraturas articulares. O diagnóstico pré-natal é difícil, existindo poucos relatos na literatura. Baseia-se, especialmente, na combinação de acinesia fetal, posição anormal dos membros, retardo de crescimento intra-uterino e polidrâmnio. Descrevemos um caso de artrogripose múltipla congênita diagnosticado pela ultra-sonografia no terceiro trimestre gestacional. Os principais achados foram a ausência...

  5. Artrogripozis multipleks konjenitalı bir hastada skolyoz cerrahisi için anestezi

    Directory of Open Access Journals (Sweden)

    Ahmet Yılmaz

    2013-03-01

    Full Text Available Arthrogryposis multiplex congenita is a disease which ischaracterized by congenital multiple joint contractures.This disease with its risks of difficult airway, difficult intravenousaccess and malign hypethermia attack is a challengingcondition for anesthesiologists. In this paper, wereport our anesthetic management experience for scoliosissurgery in a case with arthrogryposis multiplex congenita.J Clin Exp Invest 2013; 4 (1: 113-115Key words: Anesthesia, general; Arthrogryposis; Scoliosis

  6. Føtal akinesi-hypokinesi-deformationssekvens

    DEFF Research Database (Denmark)

    Bayat, Allan; Petersen, Astrid; Møller, Margrethe;

    2010-01-01

    Foetal akinesia-hypokinesia deformation sequence (FADS) involves arthrogryposis, facial deformations, pulmonary hypoplasia, intrauterine growth retardation, polyhydramnios and short umbilical cord. FADS is caused by lack of foetal movements, most often due to neuromuscular diseases. FADS is...

  7. Artrogripozis Multipleks Konjenita ve Anestezi: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

    OpenAIRE

    Karaman, Serkan; Karaman, Tuğba; Doğru, Serkan; Şahin, Aynur; Tapar, Hakan

    2014-01-01

    Arthrogryposis Multiplex Congenita is a term that describes a  rare congenital syndrome. Clinical features is characterized by  multiple joint contractures that requires recurrent surgical  interventions. Various system anomalies can be associated with this  syndrome. The anesthesia management of a patient with  Arthrogryposis Multiplex Congenita may lead to several challenges  including difficult airway, difficult venous access and malign  hyperthermia. In this case report, we aimed to prese...

  8. The clubfoot painted by Jusepe de Ribera: a controversial diagnosis.

    Science.gov (United States)

    Stahl, André; Tourame, Pierre; Montjean, Debbie

    2016-01-01

    The Clubfoot painted by José de Ribera depicts a young beggar affected by a typical equinus clubfoot. He shows a contorted right hand and wrist. His left hand holds a begging note, suggesting some difficulty to speak. This condition may be caused by a cerebral palsy, consisting of a brain injury in the left hemisphere responsible for right hemiplegia and speech disturbance. Recently, it was suggested that the boy's condition is a consequence of arthrogryposis, perhaps amyoplasia or distal arthrogryposis type A1. Some clinical features may suggest the diagnosis of Sheldon-Hall syndrome. Considering all the signs represented on the painting, the diagnosis of hemiplegia due to cerebral palsy cannot be discarded. The present article is a novel analysis of the painting based on previously proposed diagnoses of the boy's condition, namely, hemiplegia and arthrogryposis. PMID:26414783

  9. Disease: H00663 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available dermopathy--a lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr 168:100... form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Am J Med Genet 43:539-47 (1992) ...

  10. Confirmed case of Zika virus congenital infection, Spain, March 2016.

    Science.gov (United States)

    Perez, Sonia; Tato, Ruben; Cabrera, Jorge Julio; Lopez, Alberto; Robles, Olga; Paz, Eugenio; Coira, Amparo; Sanchez-Seco, Maria Paz; Vazquez, Ana; Carballo, Raquel; Quintas, Carlos; Pousa, Anxela

    2016-06-16

    We describe Zika virus (ZIKV) vertical transmission in an imported case in Spain, in a 17-week pregnant woman. ZIKV IgG, IgM and RNA were detected in serum in week 17. At 19 weeks, ultrasound scan revealed fetal malformations and ZIKV was detected in the amniotic fluid. Pregnancy was terminated at week 21; autopsy of the fetus revealed bilateral hydrocephalus, brain microcalcifications and arthrogryposis multiplex congenita. ZIKV was detected in the umbilical cord and brain tissue. PMID:27336620

  11. Antenatal Diagnosis of Iniencephaly: Sonographic and MR Correlation: A Case Report

    OpenAIRE

    Pungavkar, Sona A.; Sainani, Nisha I.; Karnik, Alka S.; Mohanty, Prita H.; Lawande, Malini A.; Patkar, Deepak P.; Sinha, Shweta

    2007-01-01

    Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be ad...

  12. HOLSTEIN IRKI BIR BUZAĞIDA KONGENITAL TOPUK EKLEMİ BÜKÜLMESİ OLGUSU

    OpenAIRE

    FIRAT, İbrahim; YILDIZ, Funda; ÖZSOY, Serhat

    2013-01-01

    AbstractIn this study, congenital flexure of fetlock, which is a congenital malformation and mild form of arthrogryposis was presented in a 7 day old, male, Holstein calf.The calf with an abnormality in the rear limbs was presented to the department of Surgery of our Faculty. The clinical and radiological examinations revealed hyperextension and rigidity in the fetlock. Euthanasia was performed due to the inefficiency of one-weck-long bandage application and the progressive deterioration of t...

  13. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

    International Nuclear Information System (INIS)

    Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented. (orig.)

  14. Carpal Fusion

    OpenAIRE

    Jalal Jalalshokouhi; Mohammad Hossein Herischi; Shahyar Pashaei; Ali Akbar Ameri

    2012-01-01

    Carpal fusion may be seen in hereditary and nonhereditary conditions such as acrocallosal syndrome,acromegaly, Apert syndrome, arthrogryposis, Carpenter syndrome, chromosomal abnormalities, ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome, the F form of acropectorovertebral dysgenesis or the F syndrome, fetal alcohol syndrome, Holt-Oram syndrome, Leopard syndrome, multiple synostosis syndrome, oligosyndactyly syndrome, Pfeiffer-like syndrome, scleroderma, split hand and foot malformatio...

  15. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Senocak, Efsun Urger; Oguz, Kader Karli; Akata, Deniz [Hacettepe University Faculty of Medicine, Department of Radiology, Sihhiye, Ankara (Turkey); Haliloglu, Goknur [Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara (Turkey); Karcaaltincaba, Deniz; Kandemir, Omer [Etlik Zubeyde Hanim Woman' s Hospital, Department of Obstetrics and Gynaecology, Ankara (Turkey)

    2009-04-15

    Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented. (orig.)

  16. Muskuloskeletal behandling af 11-årig med artrogrypose

    DEFF Research Database (Denmark)

    Thomsen, Maria Morandi; Thomsen, Stig Aaberg; Due, Pernille

    2010-01-01

    A two-year-old patient was diagnosed with arthrogryposis because of inflected knees (15-20 degrees) and stiff hamstrings. All joints and reflexes were normal. Activities were described as age-appropriate, but the patient walked with inflected knees and increased lumbal lordosis. Physiotherapy...... and botox did not improve the condition. Because of pain and hampered activities, the patient - now aged 11 years - was treated with musculoskeletal medicine. After treatment the patient could walk normally without pain and stand with stretched knees....

  17. Autoimmune myasthenia gravis.

    Science.gov (United States)

    Jayawant, Sandeep; Parr, Jeremy; Vincent, Angela

    2013-01-01

    Myasthenia gravis in children can be generalized or ocular, and associated with antibodies to acetylcholine receptors or muscle-specific kinase, but it can be negative for those antibodies (seronegative). It needs to be distinguished from congenital myasthenic syndromes and other neuromuscular diseases. In the perinatal period, transient neonatal myasthenia and arthrogryposis multiplex congenita, due to maternal antibodies, need to be considered. Juvenile myasthenia is similar in presentation and treatment to that in adults. Here we present guidelines for recognition, diagnosis, and treatment. PMID:23622368

  18. Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

    Science.gov (United States)

    Felderhoff-Mueser, Ursula; Uhl, Johannes; Penzel, Roland; Van Landeghem, Frank; Vogel, Martin; Obladen, Michael; Kopitz, Jürgen

    2004-07-15

    A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most cases death ensues either in-utero or within hours or days after birth. We report on an infant born to non-consanguineous parents of Caucasian origin presenting at birth with hydrops, arthrogryposis, severe respiratory distress, hepatosplenomegaly, and liver failure. Death occurred within several hours after delivery and autopsy revealed typical Gaucher cells in multiple organs in combination with severe apoptotic neurodegeneration throughout the brain. beta-Glucocerebrosidase activity was 1% of the norm in fibroblasts and a novel heterozygous insertion c.1515_1516insAGTGAGGGCAAT was identified by genomic sequencing and an insertion-specific seminested PCR. In addition, molecular studies revealed a previously described in type 1 Gaucher disease missense mutation c.476G --> A which results in a heterozygous substitution of R120Q. Our observations confirm considerable genotypic heterogeneity in patients with type 2 Gaucher disease. The transheterozygous combination of a mutation, previously described in type 1 Gaucher disease, together with a newly identified insertion may result in this severe phenotype.

  19. Severe spinal muscular atrophy variant associated with congenital bone fractures.

    Science.gov (United States)

    Felderhoff-Mueser, Ursula; Grohmann, Katja; Harder, Anja; Stadelmann, Christine; Zerres, Klaus; Bührer, Christoph; Obladen, Michael

    2002-09-01

    Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.

  20. GORDON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Rita

    2015-03-01

    Full Text Available BACKGROUND: Gordon Syndrome is an extremely rare disorder and it is part of a group of genetic disorders known as Arthrogryposis multiplex congenita. There are congenital contractures in at least two or more areas of body. Gordon Syndrome is characterized by congenital Camptodactyly, Clubfoot and Cleft Palate. CASE CHARACTERISTICS: One month female baby presented with congenital distal contra ctures in hands ( C amptodactyly, talipes equinovarus deformity in both lower limbs ( C lub feet, hyperextension of left leg at knee joint, central cleft palate, oral thrush. INTERVENTION: Treatment of oral thrush, feeding advice and physiotherapy. OUTCOME: Relieved of oral thrush, weight gain started and attached to Plastic Surgery, Orthopedic and Physiotherapy Specialties. MESSAGE: Sporadic cases of this rare disorder do occur and not many cases have been reported from India.

  1. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

    Energy Technology Data Exchange (ETDEWEB)

    Krakowiak, P.A.; O`Quinn, J.R.; Watkins, W.S. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)] [and others

    1997-02-01

    Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA213) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA213 to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at {theta} = 0 with the marker D11S922, and recombinants localize the gene to an {approximately}3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at {theta} = 0 and suggests linkage homogeneity for DA213. 24 refs., 4 figs., 2 tabs.

  2. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

    Science.gov (United States)

    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.

  3. Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

    Science.gov (United States)

    Banushi, Blerida; Forneris, Federico; Straatman-Iwanowska, Anna; Strange, Adam; Lyne, Anne-Marie; Rogerson, Clare; Burden, Jemima J.; Heywood, Wendy E.; Hanley, Joanna; Doykov, Ivan; Straatman, Kornelis R.; Smith, Holly; Bem, Danai; Kriston-Vizi, Janos; Ariceta, Gema; Risteli, Maija; Wang, Chunguang; Ardill, Rosalyn E.; Zaniew, Marcin; Latka-Grot, Julita; Waddington, Simon N.; Howe, S. J.; Ferraro, Francesco; Gjinovci, Asllan; Lawrence, Scott; Marsh, Mark; Girolami, Mark; Bozec, Laurent; Mills, Kevin; Gissen, Paul

    2016-01-01

    Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and contribution of collagen modifications that occur outside the endoplasmic reticulum and Golgi are not understood. We discovered that VIPAR, with its partner proteins, regulate sorting of lysyl hydroxylase 3 (LH3, also known as PLOD3) into newly identified post-Golgi collagen IV carriers and that VIPAR-dependent sorting is essential for modification of lysines in multiple collagen types. Identification of structural and functional collagen abnormalities in cells and tissues from patients and murine models of the autosomal recessive multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis syndrome caused by VIPAR and VPS33B deficiencies confirmed our findings. Thus, regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis and for the development and function of multiple organs and tissues. PMID:27435297

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

    International Nuclear Information System (INIS)

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

  5. Case Report: Atypical Cornelia de Lange Syndrome.

    Science.gov (United States)

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2014-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  6. Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

    Science.gov (United States)

    McCormick, Rodger J; Poling, Mikaela I; Portillo, Augusto L; Chamberlain, Robert L

    2015-01-01

    We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.

  7. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.

    Science.gov (United States)

    van der Kant, Rik; Jonker, Caspar T H; Wijdeven, Ruud H; Bakker, Jeroen; Janssen, Lennert; Klumperman, Judith; Neefjes, Jacques

    2015-12-18

    Trafficking of cargo through the endosomal system depends on endosomal fusion events mediated by SNARE proteins, Rab-GTPases, and multisubunit tethering complexes. The CORVET and HOPS tethering complexes, respectively, regulate early and late endosomal tethering and have been characterized in detail in yeast where their sequential membrane targeting and assembly is well understood. Mammalian CORVET and HOPS subunits significantly differ from their yeast homologues, and novel proteins with high homology to CORVET/HOPS subunits have evolved. However, an analysis of the molecular interactions between these subunits in mammals is lacking. Here, we provide a detailed analysis of interactions within the mammalian CORVET and HOPS as well as an additional endosomal-targeting complex (VIPAS39-VPS33B) that does not exist in yeast. We show that core interactions within CORVET and HOPS are largely conserved but that the membrane-targeting module in HOPS has significantly changed to accommodate binding to mammalian-specific RAB7 interacting lysosomal protein (RILP). Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome-associated mutations in VPS33B selectively disrupt recruitment to late endosomes by RILP or binding to its partner VIPAS39. Within the shared core of CORVET/HOPS, we find that VPS11 acts as a molecular switch that binds either CORVET-specific TGFBRAP1 or HOPS-specific VPS39/RILP thereby allowing selective targeting of these tethering complexes to early or late endosomes to time fusion events in the endo/lysosomal pathway. PMID:26463206

  8. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

    Science.gov (United States)

    Chong, Jessica X; Burrage, Lindsay C; Beck, Anita E; Marvin, Colby T; McMillin, Margaret J; Shively, Kathryn M; Harrell, Tanya M; Buckingham, Kati J; Bacino, Carlos A; Jain, Mahim; Alanay, Yasemin; Berry, Susan A; Carey, John C; Gibbs, Richard A; Lee, Brendan H; Krakow, Deborah; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2015-05-01

    Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal development.

  9. Carpal Fusion

    Directory of Open Access Journals (Sweden)

    Jalal Jalalshokouhi*

    2012-05-01

    Full Text Available Carpal fusion may be seen in hereditary and nonhereditary conditions such as acrocallosal syndrome,acromegaly, Apert syndrome, arthrogryposis, Carpenter syndrome, chromosomal abnormalities, ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome, the F form of acropectorovertebral dysgenesis or the F syndrome, fetal alcohol syndrome, Holt-Oram syndrome, Leopard syndrome, multiple synostosis syndrome, oligosyndactyly syndrome, Pfeiffer-like syndrome, scleroderma, split hand and foot malformation, Stickler syndrome, thalidomide embryopathy, Turner syndrome and many other conditions as mentioned in Rubinstein-Taybi's book. Sometimes there is no known causative disease.Diagnosis is usually made by plain X-ray during studying a syndrome or congenital disease or could be an incidental finding like our patients. Hand bone anomalies are more common in syndromes or other congenital or non-hereditary conditions, but polydactyly, syndactyly or oligodactyly and carpal fusions are interesting. X-ray is the modality of choice, but MRI and X-ray CT with multiplanar reconstructions may be used for diagnosis.

  10. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

    Science.gov (United States)

    Mattos, Eduardo P; Silva, André Anjos da; Magalhães, José Antônio A; Leite, Júlio César L; Leistner-Segal, Sandra; Gus-Kessler, Rejane; Perez, Juliano Adams; Vedolin, Leonardo M; Torreblanca-Zanca, Albertina; Lapunzina, Pablo; Ruiz-Perez, Victor L; Sanseverino, Maria Teresa V

    2015-06-01

    In some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of PHGDH. Serial ultrasound (US) and pre- and postnatal magnetic resonance imaging (MRI) evaluations were performed. Prenatally, serial US evaluations suggested symmetric growth restriction, microcephaly, hypoplasia of the cerebellar vermis, micrognathia, hydrops, shortened limbs, arthrogryposis, and talipes equinovarus. The prenatal MRI confirmed these findings prompting a diagnosis of NLS. After birth, radiological imaging did not detect any gross bone abnormalities. DNA was extracted from fetal and parental peripheral blood, all coding exons of PHGDH were PCR-amplified and subjected to Sanger sequencing. Sequencing of PHGDH identified a homozygous premature stop codon mutation (c.1297C>T; p.Gln433*) in fetal DNA, both parents (first-cousins) being heterozygotes. Based on previous associations of mutations in this gene with a milder NLS phenotype, as well as cases of serine deficiency, these observations lend further support to a genotype-phenotype correlation between the degree of PHGDH inactivation and disease severity. PMID:25913727

  11. Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations

    Directory of Open Access Journals (Sweden)

    Vito Leanza

    2015-05-01

    Full Text Available Cornelia de Lange Syndrome (CdLS (also called Bushy Syndrome or Amsterdam dwarfism, is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy.

  12. Desmosterolosis—Phenotypic and Molecular Characterization of a Third Case and Review of the Literature

    Science.gov (United States)

    Schaaf, Christian P.; Koster, Janet; Katsonis, Panagiotis; Kratz, Lisa; Shchelochkov, Oleg A.; Scaglia, Fernando; Kelley, Richard I.; Lichtarge, Olivier; Waterham, Hans R.; Shinawi, Marwan

    2016-01-01

    Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehydrocholesterol reductase (DHCR24). To date, desmosterolosis has been described in only two patients. Here we report on a third patient with desmosterolosis who presented after delivery with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. Brain MRI revealed hydrocephalus, thickening of the tectum and massa intermedia, mildly effaced gyral pattern, underopercularization, and a thin corpus callosum. The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient’s DHCR24 cDNA in yeast. The patient was found to be a compound heterozygote for c.281G>A (p.R94H) and c.1438G->A (p.E480K) mutations. Structural and evolutionary analyses showed that residue R94 resides at the flavin adenine dinucleotide (FAD) binding site and is strictly conserved throughout evolution, while residue E480 is less conserved, but the charge shift substitution is accompanied by drastic changes in the local protein environment of that residue. We compare the phenotype of our patient with previously reported cases. PMID:21671375

  13. [Spinal muscle atrophy in Brown Swiss x Braunvieh cross calves].

    Science.gov (United States)

    Dirksen, G; Doll, K; Hafner, A; Hermanns, W; Dahme, E

    1992-05-01

    The report describes seven SMA-cases in descendents of crossbreeds of American Brown Swiss x Deutsches Braunvieh. Symptoms and course: After initially normal development of the calves for one to six weeks the disease set in suddenly followed by a rapid lethal course of one to one and a half weeks duration due to asphyxia and/or secondary diseases. Only one case was reported having been sick since birth (?). Characteristic signs were rapidly progressing muscular atrophy, paresis and paralysis of the limbs, the trunk and the diaphragm, usually accompanied by progressive dyspnoea. Signs of congenital neuromyodysplasia (arthrogryposis) of different degree were present in four of the seven calves. Six calves had contracted a secondary pneumonia. Blood gas analysis (6/7) revealed a compensated (1x) or decompensated (4x) respiratory acidosis. Neurohistological findings: Degeneration and loss of motor neurons in the ventral horns of the spinal cord and neurogenic muscular atrophy. Immunohistochemistry revealed a pronounced accumulation of type 200 kD-neurofilaments in perikarya and dendrites of ventral horn motoneurons indicating disturbed mechanisms of the axonal transport. The disease seems to be inherited as a recessive trait.

  14. Enfermidades do sistema nervoso dos ruminantes no sul do Rio Grande do Sul Neurological diseases in ruminants in southern Brazil

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    Franklin Riet-Correa

    1998-06-01

    Full Text Available Descrevem-se os aspectos epidemiológicos, clínicos e patológicos das enfermidades do sistema nervoso central dos ruminantes, diagnosticadas na região Sul do Rio Grande do Sul, incluindo: abiotrofia cerebelar; hipoplasia cerebelar; hipermetria hereditária; artrogripose; hipomielinogênese congênita; abscesso cerebral; listeriose; tétano; botulismo; necrose simétrica focal; raiva; leucose; encefalite por herpesvírus bovino-5; febre catarral maligna; intoxicações por Solanum fastigiatum, Claviceps paspali, Ramaria flavo-brunnescens, Halimium brasiliense e Diplodia maydis; encefalopatia hepática causada por Senecio spp. e Echium plantagineum; cetose; coenurose; e síndrome espinhal.The main epidemiological, clinical and pathologic aspects of the diseases of the nervous system in cattle in Southern Rio Grande do Sul are described, including, the following conditions: cerebellar abiotrophy; cerebellar hypoplasia; congenital hypermetria; arthrogryposis; congenital hypomyelinogenesis; brain abscess; listeriose; tetanus; botulism; focal symmetrical encephalomalacia; rabies; leucosis; encephalitis by Herpesvirus Bovine-5; bovino malignant catarrh; intoxications by Solanum fastigiatum, Claviceps paspali, Halimium brasiliense, Diplodia maydis, and Ramaria flavo-brunnescens; hepatoencephalopaty caused by Senecio spp. and Echium plantagineum; ketosis; coenurosis; and spinal syndrome.

  15. Metaphyseal fractures mimicking abuse during treatment for clubfoot

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    Grayev, A.M.; Boal, D.K.B. [Milton S. Hershey Medical Center, Penn State University College of Medicine, Hershey, PA (United States); Wallach, D.M.; Segal, L.S. [Milton S. Hershey Medical Center, Penn State University College of Medicine, Hershey, PA (United States)

    2001-08-01

    Background. Metaphyseal injuries resembling the classic metaphyseal lesion (CML) of abuse may occur as the result of serial casting during treatment of clubfoot deformity. Mentioned in the orthopedic literature in 1972, this iatrogenic fracture has not been described in the radiologic literature nor has the similarity to injuries occurring with abuse been previously recognized. Objective. To describe the mechanism and radiographic appearance of metaphyseal injury observed during serial casting of clubfoot. Note similarities to the CML of abuse. Materials and methods. Eight children ranging in age from 1 to 4 months underwent casting for clubfoot. Five orthopedic surgeons from three different institutions performed the casting. Two patients had spina bifida and one, arthrogryposis. A complete skeletal survey was performed on one child who was abused; there was no suspicion of abuse in the remaining seven. Results. All children manifest injury with periosteal new bone. One child had clear evidence of abuse with 24 rib fractures. X-rays of lower extremities in short leg casts revealed bilateral tibial metaphyseal fractures. Four other children had metaphyseal fractures resembling the CML of abuse, and three developed an area of sclerosis within the metaphysis. Conclusion. In the setting of serial casting for equinovarus deformity, metaphyseal injury even the CML of abuse may be noted. Since inflicted injuries are almost always unobserved and explanations rarely offered, the fact that the CML occurs as a result of orthopedic manipulation may offer some further insight concerning the pathogenesis of this well-described abuse injury. (orig.)

  16. Research progress of rehabilitation nursing for patients with spinal cord injury complicated by muscle spasm%脊髓损伤并发肌痉挛患者的康复护理研究进展

    Institute of Scientific and Technical Information of China (English)

    杨梅; 别明波

    2014-01-01

    肌痉挛是脊髓损伤患者常见并发症,可导致患者肢体酸胀疼痛、抽搐,关节挛缩、变形,增加异位骨化和骨折的发生率。目前的护理方法主要有体位护理、康复训练后护理、痉挛手术护理、康复心理护理等。本文回顾国内外肌痉挛康复护理有关文献,对脊髓损伤患者并发肌痉挛的康复护理方法、护理效果评估、护理注意事项等研究进展进行综述。%Muscle spasm is a common complication in patients with spinal cord injury. Spasticity can lead to limb swelling pain, convulsions, arthrogryposis, distortion and increase the incidence of heterotopic ossification and fracture. Current nursing methods in-clude postural care, care after rehabilitation training,rehabilitation care after psychological treatments and care after cramping surgery, and rehabilitation psychological nursing and the like. Through reviewing the rehabilitation nursing literatures on muscle spasm at home and abroad, this article discussed the methods, effects and notices of rehabilitation nursing on the patients with spinal cord injury com-plicated by muscle spasm.

  17. Perosomus elumbis in a day old udah neonate lamb in Sokoto, Nigeria

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    A. Bello

    2013-02-01

    Full Text Available Perosomus elumbis is a rare congenital anomaly of unknown aetiology. It is characterized by errors of morphogenesis resulting in multi-organs malformations that produce a deformity of the caudal one third of the foetus. Spinal and pelvic malformations are evident, structural anomalies such as arthrogryposis of the hind limbs, ankylosis of joints, with associated malformations of the musculature. This is a case of a new born Uda lamb, with the Chief complaint of inability to stand two hours after lambing. History revealed that the dam delivered them as twins, one of which was normal. On clinical examination the lamb was recumbent but alert. The fore limbs were well developed and appeared normal. The lumbo-sacral area was excessively narrow, with a skin fold attaching the crus (Tibia and Fibula. There was an ankylosis of the stifle and hock joint and were maintained in a flexed position. The response to pin prick on the hind limb was poor. However, both anal and vulval openings were patent. Radiography revealed hypoplasia of the lumbar vertebrae, pelvic girdle, the iliac wing, the ischium and the pubis. There is a convergence of the lschial arches towards the public symphisis; the wing of the ischium is absent bilaterally. There is an ankylosis of the stifle and tarsal joints in flexed position. However, all the bones of the hind limbs are present.

  18. Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

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    Ольга Евгеньевна Агранович

    2015-12-01

    Full Text Available Epidermolysis bullosa (EB is a rare hereditary disease. Its main feature is vesication and weeping sores (erosions of the skin and mucous membranes, resulting from a minor injury. Clinical manifestations of the disease may vary from localized vesicles on the hands and feet to a generalized rash of the skin as well as lesions of the mucosa of the inner organs. At present, there are four main groups of EB: simple, intermediate, dystrophic, and Kindler syndrome. Mutations cause changes in the structure of the proteins responsible for the adhesion between layers of the dermis, leading to vesication. Treatment of EB is a challenge because of the lack of opportunities for the direct influence on the disease process, and its main purpose is to correct the existing cutaneous manifestations and prevent the occurrence of new elements. This article describes the main types of EB, methods of current diagnosis, and treatment of the disease as well as a clinical case of a rare combination of two severe disorders: 1 dystrophic EB and 2 arthrogryposis with upper and lower limb involvement.

  19. Congenital malformations caused by Stryphnodendron fissuratum (Leg. Mimosoideae) in guinea pigs (Cavia porcellus).

    Science.gov (United States)

    Macedo, Josenaldo S; Rocha, Brena P; Colodel, Edson M; Freitas, Sílvio H; Dória, Renata G S; Riet-Correa, Franklin; Evêncio-Neto, Joaquim; Mendonça, Fábio S

    2015-11-01

    The aim of this study was to evaluate the toxicity of Stryphnodendron fissuratum pods in guinea pigs (Cavia porcellus) and test the hypothesis that this plant has teratogenic effects. Thus, sixteen guinea pigs were randomly divided into four groups of four animals each. Groups 10, 20 and 40 consisted of guinea pigs that received commercial food that contained crushed pods of S. fissuratum at concentrations of 10, 20 and 40 g/kg, respectively, during the period of organogenesis. Control group consisted of guinea pigs under the same management conditions that did not receive crushed pods of S. fissuratum in their food. In all experimental groups, the main clinical signs of poisoning consisted of anorexia, prostration, absence of vocalizations, alopecia, diarrhea, and abortions within the adult guinea pigs. Those that did not abort gave birth to weak, malnourished pups, some of which had fetal malformations. The main teratogenic changes consisted of eventration, arthrogryposis, amelia of the forelimbs, anophthalmia, microphthalmia, anotia and agnathia. The reductions in the number of offspring and the malformations observed in the experimental groups suggest that S. fissuratum affects fetal development and is teratogenic. PMID:26363291

  20. Autosomal recessive multiple pterygium syndrome: a new variant?

    Science.gov (United States)

    Aslan, Y; Erduran, E; Kutlu, N

    2000-07-31

    Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents. PMID:10925380

  1. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

    Science.gov (United States)

    Chong, Jessica X.; Burrage, Lindsay C.; Beck, Anita E.; Marvin, Colby T.; McMillin, Margaret J.; Shively, Kathryn M.; Harrell, Tanya M.; Buckingham, Kati J.; Bacino, Carlos A.; Jain, Mahim; Alanay, Yasemin; Berry, Susan A.; Carey, John C.; Gibbs, Richard A.; Lee, Brendan H.; Krakow, Deborah; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal development. PMID:25957469

  2. Metaphyseal fractures mimicking abuse during treatment for clubfoot

    International Nuclear Information System (INIS)

    Background. Metaphyseal injuries resembling the classic metaphyseal lesion (CML) of abuse may occur as the result of serial casting during treatment of clubfoot deformity. Mentioned in the orthopedic literature in 1972, this iatrogenic fracture has not been described in the radiologic literature nor has the similarity to injuries occurring with abuse been previously recognized. Objective. To describe the mechanism and radiographic appearance of metaphyseal injury observed during serial casting of clubfoot. Note similarities to the CML of abuse. Materials and methods. Eight children ranging in age from 1 to 4 months underwent casting for clubfoot. Five orthopedic surgeons from three different institutions performed the casting. Two patients had spina bifida and one, arthrogryposis. A complete skeletal survey was performed on one child who was abused; there was no suspicion of abuse in the remaining seven. Results. All children manifest injury with periosteal new bone. One child had clear evidence of abuse with 24 rib fractures. X-rays of lower extremities in short leg casts revealed bilateral tibial metaphyseal fractures. Four other children had metaphyseal fractures resembling the CML of abuse, and three developed an area of sclerosis within the metaphysis. Conclusion. In the setting of serial casting for equinovarus deformity, metaphyseal injury even the CML of abuse may be noted. Since inflicted injuries are almost always unobserved and explanations rarely offered, the fact that the CML occurs as a result of orthopedic manipulation may offer some further insight concerning the pathogenesis of this well-described abuse injury. (orig.)

  3. Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

    Science.gov (United States)

    Toru, Havva Serap; Nur, Banu Guzel; Sanhal, Cem Yasar; Mihci, Ercan; Mendilcioğlu, İnanç; Yilmaz, Elanur; Yilmaz, Gulden Tasova; Ozbudak, Irem Hicran; Karaali, Kamil; Alper, Ozgul M; Karaveli, Fatma Şeyda

    2015-01-01

    Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior-Clausen syndrome (n = 1), 72.1% of dysostosis cases (n = 39). All SD cases were diagnosed by ultrasonography. In 20 of the cases, amniocentesis was performed, 4 cases underwent molecular genetic analyses. Antenatal identification of dysplasia is important in the management of pregnancy and in genetic counseling. Our data analysis showed that SD is usually detected clinically after the 20th gestational week. Genetic analyses for SD may provide early diagnosis and management. PMID:26376227

  4. Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

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    Mukesh Tiwari

    2013-04-01

    Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

  5. Phenotypic variability of TRPV4 related neuropathies

    Science.gov (United States)

    Evangelista, Teresinha; Bansagi, Boglarka; Pyle, Angela; Griffin, Helen; Douroudis, Konstantinos; Polvikoski, Tuomo; Antoniadi, Thalia; Bushby, Kate; Straub, Volker; Chinnery, Patrick F.; Lochmüller, Hanns; Horvath, Rita

    2015-01-01

    Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot–Marie–Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in two unrelated patients with two novel heterozygous missense mutations in the TRPV4 gene. Whole exome sequencing was carried out on genomic DNA using Illumina TruseqTM 62Mb exome capture. Patient 1 harbours a de novo c.805C > T (p.Arg269Cys) mutation. Clinically, this patient shows signs of both scapuloperoneal spinal muscular atrophy and skeletal dysplasia. Patient 2 harbours a novel c.184G > A (p.Asp62Asn) mutation. While the clinical phenotype is compatible with CMT type 2C with the patient's muscle harbours basophilic inclusions. Mutations in the TRPV4 gene have a broad phenotypic variability and disease severity and may share a similar pathogenic mechanism with Heat Shock Protein related neuropathies. PMID:25900305

  6. A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease.

    Science.gov (United States)

    Sadler, Kirsten C; Amsterdam, Adam; Soroka, Carol; Boyer, James; Hopkins, Nancy

    2005-08-01

    Hepatomegaly is a sign of many liver disorders. To identify zebrafish mutants to serve as models for hepatic pathologies, we screened for hepatomegaly at day 5 of embryogenesis in 297 zebrafish lines bearing mutations in genes that are essential for embryonic development. Seven mutants were identified, and three have phenotypes resembling different liver diseases. Mutation of the class C vacuolar protein sorting gene vps18 results in hepatomegaly associated with large, vesicle-filled hepatocytes, which we attribute to the failure of endosomal-lysosomal trafficking. Additionally, these mutants develop defects in the bile canaliculi and have marked biliary paucity, suggesting that vps18 also functions to traffic vesicles to the hepatocyte apical membrane and may play a role in the development of the intrahepatic biliary tree. Similar findings have been reported for individuals with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, which is due to mutation of another class C vps gene. A second mutant, resulting from disruption of the tumor suppressor gene nf2, develops extrahepatic choledochal cysts in the common bile duct, suggesting that this gene regulates division of biliary cells during development and that nf2 may play a role in the hyperplastic tendencies observed in biliary cells in individuals with choledochal cysts. The third mutant is in the novel gene foie gras, which develops large, lipid-filled hepatocytes, resembling those in individuals with fatty liver disease. These mutants illustrate the utility of zebrafish as a model for studying liver development and disease, and provide valuable tools for investigating the molecular pathogenesis of congenital biliary disorders and fatty liver disease.

  7. Bovine epizootic encephalomyelitis caused by Akabane virus in southern Japan

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    Tanaka Shogo

    2008-06-01

    Full Text Available Abstract Background Akabane virus is a member of the genus Orthobunyavirus in the family Bunyaviridae. It is transmitted by hematophagous arthropod vectors such as Culicoides biting midges and is widely distributed in temperate to tropical regions of the world. The virus is well known as a teratogenic pathogen which causes abortions, stillbirths, premature births and congenital abnormalities with arthrogryposis-hydranencephaly syndrome in cattle, sheep and goats. On the other hand, it is reported that the virus rarely induces encephalomyelitis in cattle by postnatal infection. A first large-scale epidemic of Akabane viral encephalomyelitis in cattle occurred in the southern part of Japan from summer to autumn in 2006. The aim of this study is to define the epidemiological, pathological and virological properties of the disease. Results Nonsuppurative encephalomyelitis was observed in cattle that showed neurological symptoms such as astasia, ataxia, opisthotonus and hypersensitivity in beef and dairy farms by histopathological analysis. Akabane viral antigen and genome were consistently detected from the central nervous system of these animals, and the virus was isolated not only from them but also from the blood samples of clinically healthy calves in the epidemic area. The isolates were classified into genogroup I a containing the Iriki strain, which caused encephalitis of calves almost twenty years ago in Japan. Most of the affected cattle possessed the neutralizing antibody against Akabane virus. Seroconversion of the cohabitated and sentinel cattle in the epidemic area was also confirmed during an outbreak of the disease. Conclusion The ecological and epidemiological data we have obtained so far demonstrated that the Akabane virus is not endemic in Japan. No evidence of Akabane virus circulation was observed in 2005 through nation-wide serological surveillance, suggesting that a new strain belonging to genogroup I a invaded southern Japan

  8. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

    Science.gov (United States)

    Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schöneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Hübner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus

    2016-01-01

    Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. We used autozygosity mapping and whole-exome sequencing to search for pathogenic mutations in four families. Affected individuals presented with prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. We identified homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that led to a truncation or the entire absence of the respective proteins and cosegregated with the disease phenotype. Trip4 and Ascc1 have identical expression patterns in 17.5-day-old mouse embryos with high expression levels in the spinal cord, brain, paraspinal ganglia, thyroid, and submandibular glands. Antisense morpholino-mediated knockdown of either trip4 or ascc1 in zebrafish disrupted the highly patterned and coordinated process of α-motoneuron outgrowth and formation of myotomes and neuromuscular junctions and led to a swimming defect in the larvae. Immunoprecipitation of the ASC-1 complex consistently copurified cysteine and glycine rich protein 1 (CSRP1), a transcriptional cofactor, which is known to be involved in spinal cord regeneration upon injury in adult zebrafish. ASCC1 mutant fibroblasts downregulated genes associated with neurogenesis, neuronal migration, and pathfinding (SERPINF1, DAB1, SEMA3D, SEMA3A), as well as with bone development (TNFRSF11B, RASSF2, STC1). Our findings indicate that the dysfunction of a transcriptional coactivator complex can result in a clinical syndrome affecting the neuromuscular system. PMID:26924529

  9. Virus-induced congenital malformations in cattle.

    Science.gov (United States)

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-01-01

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered. PMID:26399846

  10. Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

    Directory of Open Access Journals (Sweden)

    Clairton Marcolongo-Pereira

    2010-10-01

    muscular system (arthrogryposis, three (6.25% the cardiovascular system (patent ductus arteriosus and unclassified malformation, one (2.08% the lymphatic system (hereditary lymphatic hypoplasia, one (2.08% the alimentary system (atresia ani, and one (2.08% the eye (congenital blindness. In five cases (10.41% different systems were affected (diprosopus. Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia or diseases suspected of being hereditary (chondrodysplasia were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration. In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia. In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia. It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could be important in some regions or farms. Hereditary or probably hereditary diseases are important, not only by the mortality rates, but also because the risk of dissemination of the genes in the different breeds. In water buffalo the high prevalence of hereditary diseases was a consequence of the high consanguinity of the Brazilian buffalo population. Control measures need to be taken to avoid the spread of recessive genes in cattle and buffalo.

  11. Electromyography (EMG) accuracy compared to muscle biopsy in childhood.

    Science.gov (United States)

    Rabie, Malcolm; Jossiphov, Joseph; Nevo, Yoram

    2007-07-01

    Reports show wide variability of electromyography (EMG) in detecting pediatric neuromuscular disorders. The study's aim was to determine EMG/nerve conduction study accuracy compared to muscle biopsy and final clinical diagnosis, and sensitivity for myopathic motor unit potential detection in childhood. Of 550 EMG/nerve conduction studies performed by the same examiner from a pediatric neuromuscular service, 27 children (ages 6 days to 16 years [10 boys; M:F, 1:1.7]) with muscle biopsies and final clinical diagnoses were compared retrospectively. Final clinical diagnoses were congenital myopathies (5 of 27,18%), nonspecific myopathies (biopsy myopathic, final diagnosis uncertain; 6 of 27, 22%), congenital myasthenic syndrome (3 of 27, 11%), juvenile myasthenia gravis (1 of 27, 4%), arthrogryposis multiplex congenita (2 of 27, 7%), hereditary motor and sensory neuropathy (1 of 27, 4%), bilateral peroneal neuropathies (1 of 27, 4%), and normal (8 of 27, 30%). There were no muscular dystrophy or spinal muscular atrophy patients. EMG/nerve conduction studies had a 74% agreement with final clinical diagnoses and 100% agreement in neurogenic, neuromuscular junction, and normal categories. Muscle biopsies concurred with final diagnoses in 87%, and 100% in myopathic and normal categories. In congenital myasthenic syndrome, muscle biopsies showed mild variation in fiber size in 2 of 3 children and were normal in 1 of 3. EMG sensitivity for detecting myopathic motor unit potentials in myopathies was 4 of 11 (36%), greater over 2 years of age (3 of 4, 75%), compared to infants less than 2 years (1 of 7, 14%), not statistically significant (P = .0879). EMGs false-negative for myopathy in infants EMG detected myopathic motor unit potentials in 40%, with false-negative results neurogenic (20%) or normal (40%). Because our study has no additional tests for active myopathies, for example Duchenne muscular dystrophy genetic testing, our sensitivity for myopathies is lower than if we

  12. O tratamento do pé artrogripótico Treatment of the arthrogrypotic foot

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    Simone Dota Simis

    2008-05-01

    Full Text Available A artrogripose é um termo utilizado para definir a presença, ao nascimento, de múltiplas contraturas articulares. A amioplasia é a principal e mais freqüente doença que cursa com contraturas congênitas e deformidade em eqüinovaro dos pés. A maioria dessas crianças tem bom potencial para a deambulação, havendo a necessidade da correção da deformidade dos pés para a posição plantígrada. O tratamento desses pés continua sendo um desafio devido à rigidez característica da doença e ao alto risco de recidiva. Os autores apresentam as opções de tratamento com base em uma revisão ampla da literatura, discutindo as técnicas cirúrgicas convencionais, como as liberações de partes moles e a talectomia, e a correção com o aparelho de Ilizarov. Ressaltam os estudos com resultados do tratamento primário do pé artrogripótico, na tentativa de fundamentar e auxiliar o ortopedista nesta difícil escolha.Arthrogryposis is the name used to define the presence of multiple joint contractures at birth. Amyoplasia is the main and most frequent among the diseases that take place with congenital contractures and equinovarus deformity of the foot. Most of these children have a good potential for walking, and a correction is required to correct their feet to the plantigrade position. Treatment of these feet presents a challenge due to the characteristic rigidity of the disease and to the high risk of recurrence. The authors present the treatment options based on a broad review of the literature, and discuss the conventional surgical techniques, such as the release of soft tissues and talectomy, and the correction of Ilizarov's device. They point to the studies that show the results of primary treatment of the arthrogrypotic foot in an attempt of providing a basis and giving a support to the orthopedist in this difficult choice.

  13. Mortalidade perinatal em cabritos no semi-árido da Paraíba Perinatal mortality in kids in the semiarid region of Paraíba, Brazil

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    Josemar Marinho de Medeiros

    2005-12-01

    Full Text Available As causas de mortalidade perinatal em cabritos foram estudadas de maio de 2002 a agosto de 2004. Em 118 cabritos necropsiados as causas de morte foram: infecção neonatal (50%, distocia (12,71%, complexo hipotermia/inanição (11,86%, malformações (7,62%, síndrome do cabrito mole (6,77% e abortos (1,69%. Com relação ao momento da morte 1,69% dos cabritos morreram antes do parto, 16,94% durante o parto e 81,34 % após o nascimento. A alta ocorrência de infecções neonatais, distocias e hipotermia/inanição é provavelmente devido a fatores relacionados com erros no manejo sanitário, reprodutivo e nutricional. Artogripose dos membros anteriores foi a principal malformação observada. Este defeito é endêmico em rebanhos de caprinos no semi-árido do Brasil. A maioria das mortes ocorreu após o nascimento (25,42% e do quarto ao vigésimo dia de vida (38,98% sugerindo que o cuidado com os cabritos durante os primeiros 28 dias de vida é importante para melhorar as taxas de sobrevivência dos mesmos.The causes of perinatal kid mortality were studied from May 2002 to August 2004 in the semiarid region of Paraíba. In 118 necropsied kids the frequency of different causes of death were neonatal infections (50%, distocia (12.71%, hypothermia/starvation (11.86%, malformations (7.62%, floppy kid (6.77% and abortions (1.69%. Regarding the time of death, 1.69% of the kids died before parturition, 16.94% during the parturition and 81.34 % after birth. The high occurrence of neonatal infections, dystocias, and hypothermia/starvation is probably to due to factors related with error in the sanitary, reproductive and nutritional management. Arthrogryposis of the forelimbs was the main malformation observed. This defect is endemic in goat flocks in the semi-arid of Brazil. Most deaths occurred after birth (25.42% and from the 4th to the 28th day of life (38.98% suggesting that care with the kids during their first 28 days of life is important for the

  14. 都江堰友爱学校地震伤员康复状况调查分析%Rehabilitation needs of earthquake victims in Dujiangyan Youai primary school in Sichuan Province

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    潘福琼; 黎浩然; 杨玉龙; 田金艳; 赵冠兰; 彭博; 陈启明; 罗尚蔚; 何锦华; 彭元宏

    2011-01-01

    Objective To investigate the status of dysfunction and rehabilitation needs of earthquake victims in Dujiangyan Youai primary school in Sichuan Province,to provide a guideline for further rehabilitation. Methods Live investigation was performed for 105 patients in the school. Amputation Body Image Scale (ABIS)was used as psychological assessment to investigate the psychological status of 40 amputees. Results Among the 105 victims,there were 44 cases of fracture (41.9%) ,40 cases of amputee ( 39% ),15 cases of crush syndrome ( 14. 2% ) and 6 cases of head injury (5. 7% ). Most of them had different levels of physical dysfunction,including 62 cases of decreased muscle strength ( 59. 1% ) ,32 cases of muscular atrophy ( 30. 2% ) ,49 cases of limited range of motion ( ROM ) ( 46. 7% ) , 70 cases of cicatricial adhesion ( 66. 7% ) , 14 cases of sensory disorder ( 13.3% ) , 32 cases of arthrogryposis ( 30. 5% ) ,23 cases of abnormal gait ( 21.9% ) and 26 cases of limitation in activities of daily living ( ADL ) ( 24. 8% ). Conclusions Sichuan earthquake victims in Youai primary school had different levels of rehabilitation needs. Further rehabilitation is needed and intensive attention should be paid to those wounded with psychological problems.%目的 分析全国首家无障碍学校--四川省都江堰友爱学校地震伤员的伤情、功能障碍、康复现状及需求,为下一步康复医疗提供依据.方法 对105例在校伤员进行现场功能评估,采用截肢身体意象评估量表(ABIS),对40名截肢伤员进行问卷调查.结果 105例伤员中,骨折44例(41.9%)、截肢40例(39%)、挤压伤15例(14.2%)、脑外伤6例(5.7%);大都存在的不同程度、多种功能障碍问题,其中肌力减退62例(59.1%),肌肉萎缩32例(30.2%),关节活动度(ROM)受限49例(46.7%),瘢痕粘连增生70例(66.7%),感觉障碍14例(13.3%),关节挛缩32例(30.5%),步态异常23例(21.9%),生活不能完全自理26例(24.8%).结论 105

  15. Multi-minicore disease revisited Miopatia dos multi-minifocos revisitada

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    Anamarli Nucci

    2004-12-01

    Full Text Available Multi-minicore disease (MmD is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.A miopatia dos múltiplos minifocos (MM é doença congênita rara, definida por alterações estruturais observadas ao microscópio óptico e eletrônico: múltiplas e pequenas áreas sem atividade enzimática oxidativa e desorganização focal das proteínas contráteis envolvendo poucos sarcômeros. A forma clássica da doença se manifesta com hipotonia mais ou menos grave e fraqueza generalizada, predominante em músculos axiais e proximais em membros. Entretanto, variantes cl

  16. Estudo demográfico de pacientes portadores de deformidades de coluna vertebral que aguardam cirurgia em hospital terciário de alta complexidade Estudio demográfico de pacientes con deformidades de la columna en espera de cirugía en hospital de tercer nivel de alta complejidad Demographic study of patients with spinal deformities who are awaiting surgery in a tertiary hospital of high complexity

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    Nicola Jorge Carneiro Neto

    2012-09-01

    años. Entre las malformaciones encontradas fueron identificadas: escoliosis congénita por segmentación (6 o 3,5%, formación (39 o 22,9%, mixta (34 o 20,0% y compleja (14 o 8.2%, escoliosis neuromuscular en la parálisis cerebral (PC (54 o 31,8%, miopatía (11 o 6,5%, artrogriposis (2 o 1,2% y escoliosis por neurofibromatosis (10 o 5,9%. CONCLUSIÓN: Hay una lista considerable de pacientes con deformidades de la columna que aguardan en lista de espera por el tratamiento quirúrgico a menudo durante un período bastante prolongado. Este hecho produce un problema social difícil de manejar cuando se añaden escoliosis neuromuscular y escoliosis congénita, es responsable de la gran mayoría de los casos en la espera de la cirugía.OBJECTIVE: Set the demographic characteristics of patients with secondary deformities of the spine waiting for surgical treatment in a tertiary hospital of high complexity. METHODS: Information was obtained from patient charts in the predefined period. The data were selected according to the criteria already presented and manipulated statistically. RESULTS: The study included a total of 170 patients, of which 94 were female aged between 1 and 58 years, and 76 males aged between 1 and 26 years. Among the deformities found the following were identified: congenital scoliosis were identified by segmentation (6 or 3.5%, formation (39 or 22.9%, mixed (34 or 20.0% and complex (14 or 8.2%, neuromuscular scoliosis in cerebral palsy (PC (54 or 31.8%, myopathy (11 or 6.5%, arthrogryposis (2 or 1.2% and scoliosis in neurofibromatosis (10 or 5.9%. CONCLUSION: There is a considerable list of patients with spinal deformities waiting for surgical treatment for a period of time often quite prolonged. This fact leads to a social problem difficult to handle and when added together, neuromuscular scoliosis and congenital scoliosis are responsible for the vast majority of cases awaiting surgery.

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

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    Antônio Flávio M Dantas

    2010-10-01

    planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga.Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Grande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48% out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1 caused by the ingestion of M. tenuiflora, and 2 sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3% of malformations caused by M. tenuiflora and 3 (0.71% of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84% were caused by M. tenuiflora and 6 (1.38% were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81% malformations related with the ingestion of M. tenuiflora and 3 (0.6% sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with

  18. 先天性挛缩蜘蛛指畸形六例临床分析%Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases

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    汪学松; 仉建国; 邱贵兴; 翁习生; 高增鑫; 卢文灿; 赵丽娟

    2008-01-01

    ,flexion contractures of multiple joints(elbow,knee,hip,and finger),kyphoscoliosis,muscular hypoplasia,and abnormal pinnae("crumpled" outer helices).Molecular genetic testing showed mutation in the fibrillin-2(FBN2)gene encoding the extracellular matrix microfibril.Four cases were followed up for 6~9 months.Results After operation the average Cobb angle of the scoliosis and kyphosis were 37.6° (35°~52°)and 38.6°(28°~54°)immediately,with 62.3%and 68.7% curve correction respectively.Three cases got excellent synostosis of posterior lamina,1 case underwent revision with lamina hook because the distal screw was loose and hurt the nerve root,and the other 2 cases lost follow-up.The patients'body appearance and pulmonary function were obviously improved. Conclusion The characteristic clinical manifestation include severe and stiff kyphoscoliosis,difficult to correct,and enhanced Cobb angle,and pedicle dysplasia of vertebral pedicle leading to difficulty in installing screws.Smith-Petersen osteotomy is often necessary.CCA should be differentiated with Marfan syndrom(MFS),Stickler syndrome,Homocystinuria,and distal arthrogryposis,especially MFS.