Open AccessCongenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
Author(s) -
Virendra Mehar,
Dinesh Yadav,
Ravindra Kumar,
Summi Yadav,
Kuldip Singh,
Bert Callewaert,
Shahnawaz Pathan,
Anne De Paepe,
Paul Coucke
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-14093
Subject(s) - arachnodactyly , differential diagnosis , scoliosis , medicine , contracture , genetics , anatomy , pathology , biology , surgery , marfan syndrome
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.