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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

Citation

Burdon, KP and Durkin, SR and Burke, M and Edwards, M and Pater, J and Straga, T and Gecz, J and Liebelt, JE and Craig, JE, A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family, American Journal of Medical Genetics. Part A, 149, (4) pp. 633-639. ISSN 1552-4825 (2009) [Refereed Article]

Copyright Statement

Copyright 2009 Wiley-Liss, Inc

DOI: doi:10.1002/ajmg.a.32726

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.

Item Details

Item Type:Refereed Article
Keywords:Cataracts; Developmental delay; Dysmorphism; Familial; Indigenous Australian
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:91084
Year Published:2009
Web of Science® Times Cited:2
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-05-07
Last Modified:2014-06-23
Downloads:0

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