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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family
journal contribution
posted on 2023-05-18, 00:19 authored by Kathryn BurdonKathryn Burdon, Durkin, SR, Burke, M, M Edwards, Pater, J, Straga, T, Gecz, J, Liebelt, JE, Craig, JEA 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.
History
Publication title
American Journal of Medical Genetics. Part AVolume
149Issue
4Pagination
633-639ISSN
1552-4825Department/School
Menzies Institute for Medical ResearchPublisher
John Wiley & Sons, Inc.Place of publication
United StatesRights statement
Copyright 2009 Wiley-Liss, IncRepository Status
- Restricted