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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
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 |
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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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