Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Virendra Mehar; Dinesh Yadav; Ravindra Kumar; Summi Yadav; Kuldeep Singh; Bert Callewaert; Shahnawaz Pathan; Anne De Paepe; Paul J Coucke

doi:10.3233/PGE-14093

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

J Pediatr Genet. 2014 Sep;3(3):163-6. doi: 10.3233/PGE-14093.

Authors

Virendra Mehar¹, Dinesh Yadav¹, Ravindra Kumar², Summi Yadav³, Kuldeep Singh¹, Bert Callewaert⁴, Shahnawaz Pathan¹, Anne De Paepe⁴, Paul J Coucke⁴

Affiliations

¹ Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
² Central Research Laboratory, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
³ Department of Gynecology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
⁴ Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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.

Keywords: Beals syndrome; congenital contractures; fibrillin-2; novel mutation.

Publication types

Case Reports