Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.
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.
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
Virendra
V
Mehar
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
Dinesh
D
Yadav
Central Research Laboratory, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
Ravindra
R
Kumar
Department of Gynecology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
Summi
S
Yadav
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
Kuldeep
K
Singh
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Bert
B
Callewaert
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India.
Shahnawaz
S
Pathan
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Anne
A
De Paepe
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Paul J
PJ
Coucke
Beals syndrome; congenital contractures; fibrillin-2; novel mutation