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Congenital contractural arachnodactyly (Beals syndrome)

1 Jun 2006

Abstract excerpt

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. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures...

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PMID: 16740166
DOI: 10.1186/1750-1172-1-20

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