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

Article type: Research Article

Authors: Mehar, Virendra | Yadav, Dinesh | Kumar, Ravindra | Yadav, Summi | Singh, Kuldeep | Callewaert, Bert | Pathan, Shahnawaz | De Paepe, Anne | Coucke, Paul J.

Affiliations: Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India | Central Research Laboratory, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India | Department of Gynecology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India | Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Note: [] Corresponding author: Dr. Dinesh Yadav, MD, Department of Pediatrics, S404, Sanskar Apartments, Sri Aurobindo Institute of Medical Sciences, Indore-Ujjain Highway, Indore, Madhya Pradesh PIN-453111, India. Tel.: +91 9462725425; E-mail: [email protected]

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

DOI: 10.3233/PGE-14093

Journal: Journal of Pediatric Genetics, vol. 3, no. 3, pp. 163-166, 2014