Results 11 to 20 of about 2,852 (190)
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
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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A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria. [PDF]
Clin Case RepABSTRACT We report a 39‐year‐old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye.
Asadollahzadeh E +4 more
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Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report
Haseki Tıp Bülteni, 2011 Ali Karaman, Hasan Kahveci
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Circulation, 1959 Arachnodactyly is often associated with cardiovascular lesions. Most frequent are aortic abnormalities but congenital anomalies of the heart may be present. Another cardiac lesion has been found in some cases of arachnodactyly.
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Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
Molecular Genetics & Genomic Medicine, 2021 Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2).
Lin Hu +6 more
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