title: A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.
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.
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia. kathryn.burdon@flinders.edu.au
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: Shane R
authors.initials: SR
authors.lastname: Durkin
authors.forename: Mary
authors.initials: M
authors.lastname: Burke
authors.forename: Matthew
authors.initials: M
authors.lastname: Edwards
authors.forename: John
authors.initials: J
authors.lastname: Pater
authors.forename: Tania
authors.initials: T
authors.lastname: Straga
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
authors.forename: Jan E
authors.initials: JE
authors.lastname: Liebelt
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
mesh_terms: D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013021:South Australia; D013577:Syndrome; D055815:Young Adult