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

Kathryn P. Burdon, Shane R. Durkin, Mary Burke, Matthew Edwards, John Pater, Tania Straga, Jozef Gecz, Jan E. Liebelt, Jamie E. Craig

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

LanguageEnglish
Pages633-639
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number4
DOIs
Publication statusPublished - 1 Apr 2009
Externally publishedYes

Keywords

  • Cataracts
  • Developmental delay
  • Dysmorphism
  • Familial
  • Indigenous Australian

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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