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J Pediatr Genet 2014; 03(03): 163-166
DOI: 10.3233/PGE-14093
DOI: 10.3233/PGE-14093
Case Report
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
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Further Information
Publication History
14 July 2014
12 August 2014
Publication Date:
27 July 2015 (online)
Abstract
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 contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly.