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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
Author(s) -
Burdon Kathryn P.,
Durkin Shane R.,
Burke Mary,
Edwards Matthew,
Pater John,
Straga Tania,
Gecz Jozef,
Liebelt Jan E.,
Craig Jamie E.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32726
Subject(s) - short stature , genetics , clinodactyly , medicine , biology , pediatrics
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. © 2009 Wiley‐Liss, Inc.