J Pediatr Genet 2014; 03(03): 163-166
DOI: 10.3233/PGE-14093
Case Report
Georg Thieme Verlag KG Stuttgart – New York

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

Virendra Mehar
a  Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Dinesh Yadav
a  Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Ravindra Kumar
b  Central Research Laboratory, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Summi Yadav
c  Department of Gynecology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Kuldeep Singh
a  Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Bert Callewaert
d  Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
,
Shahnawaz Pathan
a  Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Anne De Paepe
d  Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
,
Paul J. Coucke
d  Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
› Author Affiliations

Subject Editor:
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.