TY - JOUR AU - Mehar, Virendra; Yadav, Dinesh; Kumar, Ravindra; Yadav, Summi; Singh, Kuldeep; Callewaert, Bert; Pathan, Shahnawaz; De Paepe, Anne; Coucke, Paul J. TI - Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene TT - Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene SN - 2146-4596 SN - 2146-460X PY - 2014 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 03 IS - 03 SP - 163 EP - 166 DA - 2015/07/27 KW - Beals syndrome KW - congenital contractures KW - fibrillin-2 KW - novel mutation AB - 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. PB - Georg Thieme Verlag KG DO - 10.3233/PGE-14093 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.3233/PGE-14093 ER -