Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.

Abstract

We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.

• Authors: Sibylle Eigelshoven, Gitta Kameda, Anne-Katrin Kortüm, Simone Hübsch, Wolfgang Angerstein, Preeti Singh, Renate Vöhringer, Timm Goecke, Ertan Mayatepek, Thomas Ruzicka, Gabriele Wildhardt, Thomas Meissner, Roland Kruse
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 26 Issue 6 Pg. 759-61 ( 2009) ISSN: 1525-1470 [Electronic] United States
• PMID: 20199465 (Publication Type: Case Reports, Journal Article)

Chemical References

• PAX3 Transcription Factor
• PAX3 protein, human
• Paired Box Transcription Factors

Topics

• Anodontia (genetics, pathology)
• Child, Preschool
• Female
• Hearing Loss, Sensorineural (genetics, pathology)
• Humans
• Hypopigmentation (genetics, pathology)
• Iris Diseases (genetics, pathology)
• Mutation, Missense
• PAX3 Transcription Factor
• Paired Box Transcription Factors (genetics)
• Waardenburg Syndrome (genetics, pathology)