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

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 f...

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Published inAmerican journal of medical genetics. Part A Vol. 149A; no. 4; pp. 633 - 639
Main Authors Burdon, Kathryn P., Durkin, Shane R., Burke, Mary, Edwards, Matthew, Pater, John, Straga, Tania, Gecz, Jozef, Liebelt, Jan E., Craig, Jamie E.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2009
Wiley-Liss
Subjects
Biological and medical sciences
Cataract - genetics
cataracts
Child, Preschool
Chromosomes, Human, X - genetics
Craniofacial Abnormalities - genetics
developmental delay
Developmental Disabilities - genetics
dysmorphism
Ectodermal Dysplasia - genetics
familial
Female
Genetic Linkage
Humans
Indigenous Australian
Lens diseases
Male
Medical genetics
Medical sciences
Oceanic Ancestry Group - genetics
Ophthalmology
Pedigree
Phenotype
South Australia
Syndrome
Young Adult
Australia
Oceania
South Australia
Human
Cataract
Family study
Indigenous Australian
Developmental disorder
Genetic disease
familial
Eye disease
Dysmorphism
Lens disease
Malformation
Aboriginal
Family environment
developmental delay
Complex syndrome
Child
cataracts
Anterior segment disease
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Summary: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.
Bibliography:National Health and Medical Research Council of Australia (NHMRC) - No. 275566; No. 426753
istex:1B65A213D9DF61D6B74FBCAEEF994A0A337E64EC
ArticleID:AJMG32726
Kathryn P. Burdon and Shane R. Durkin contributed equally to this work.
How to Cite this Article: Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE. 2009. A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family Am J Med Genet Part A 149A:633-639.
ark:/67375/WNG-XBVP63C7-F
How to Cite this Article: Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE. 2009. A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family Am J Med Genet Part A 149A:633–639.
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32726