Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
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.
Eigelshoven
Sibylle
S
Department of Dermatology, Heinrich-Heine-University, Düsseldorf, Germany. Eigelshoven@med.uni-duesseldorf.de
Kameda
Gitta
G
Kortüm
Anne-Katrin
AK
Hübsch
Simone
S
Angerstein
Wolfgang
W
Singh
Preeti
P
Vöhringer
Renate
R
Goecke
Timm
T
Mayatepek
Ertan
E
Ruzicka
Thomas
T
Wildhardt
Gabriele
G
Meissner
Thomas
T
Kruse
Roland
R
D000848:Anodontia / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics / Q000473:pathology*; D007499:Iris Diseases / Q000235:genetics / Q000473:pathology*; D020125:Mutation, Missense; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D014849:Waardenburg Syndrome / Q000235:genetics / Q000473:pathology*
D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors