Article
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 - 15 Feb 2009
Burdon Kathryn P, Durkin Shane R, Burke Mary, Edwards Matthew, Pater John, Straga Tania, Gecz Jozef, Liebelt Jan E, Craig Jamie E
Abstract excerpt
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,...
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