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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
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Publikationsverlauf

14. Juli 2014

12. August 2014

Publikationsdatum:
27. Juli 2015 (online)

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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