Results 11 to 20 of about 3,083 (188)
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2001 We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA).
Rosana Herminia Scola +5 more
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X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child
Journal of the Formosan Medical Association, 2008 We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang +5 more
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Congenital Contractural Arachnodactyly
Pediatric Neurology Briefs, 1990 An infant girl with arachnodactyly and spontaneously resolving contractures who died in cardiac failure is reported from the Paediatric Unit, Northern General Hospital and Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, England.
J Gordon Millichap
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Congenital contractural arachnodactyly (Beals syndrome)
Orphanet Journal of Rare Diseases, 2006 Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Alanay Yasemin, Tunçbilek Ergül
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PLoS ONE, 2016 Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
Hao Deng +10 more
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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly [PDF]
FEBS Open Bio, 2015 Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and ...
Wei Liu +9 more
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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly
Human Genome VariationCongenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome.
Mina Nakama +4 more
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The Journal of Pediatrics, 1939 The case of arachnodactyly reported here is interesting because the condition occurs singly in a perfectly normal family (3 siblings) and because of the train of events leading to the diagnosis. J. B., aged 6 years, was brought in for examination as required for admission to the state school for the blind.
Alwin C. Rambar, Edward J. Denenholz
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Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance. [PDF]
JIMD RepABSTRACT Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of ...
Chard M, Zhang JS, Turner L.
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Frontiers in Genetics, 2023 Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li +19 more
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