Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/51916
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Type: Journal article
Title: A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
Author: Burdon, K.
Durkin, S.
Burke, M.
Edwards, M.
Pater, J.
Straga, T.
Gecz, J.
Liebelt, J.
Craig, J.
Citation: American Journal of Medical Genetics. Part A, 2009; 149A(4):633-639
Publisher: Wiley-Liss
Issue Date: 2009
ISSN: 1552-4825
1552-4833
Statement of
Responsibility: 
Kathryn P. Burdon, Shane R. Durkin, Mary Burke, Matthew Edwards, John Pater, Tania Straga, Jozef Gecz, Jan E. Liebelt, Jamie E. Craig
Abstract: A novel syndrome initially presenting with cataract and developmental delay within an Indigenous Australian family is described. We present the extended four generation pedigree and describe in detail the phenotypic appearance of five clearly affected male second cousins in this family. The common features of these children include developmental delay, short stature, cortical cataract, facial dysmorphism, clinodactyly, thin hair and an erythematous skin rash. Initial inspection of the pedigree suggested an inherited disorder with possible X-linked inheritance. However, a thorough scan of the X chromosome failed to reveal linkage. This family represents a new syndrome of familial cataract, dysmorphic features, short stature and developmental delay with probable autosomal inheritance and variable expressivity.
Keywords: Indigenous Australian; cataracts; developmental delay; dysmorphism; familial
Rights: Copyright © 2009 Wiley-Liss, Inc., A Wiley Company
RMID: 0020090463
DOI: 10.1002/ajmg.a.32726
Appears in Collections:Paediatrics publications

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