Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
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Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contracture... ...
