title: 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.affiliation: Department of Dermatology, Heinrich-Heine-University, Düsseldorf, Germany. Eigelshoven@med.uni-duesseldorf.de
authors.forename: Sibylle
authors.initials: S
authors.lastname: Eigelshoven
authors.forename: Gitta
authors.initials: G
authors.lastname: Kameda
authors.forename: Anne-Katrin
authors.initials: AK
authors.lastname: Kortüm
authors.forename: Simone
authors.initials: S
authors.lastname: Hübsch
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Angerstein
authors.forename: Preeti
authors.initials: P
authors.lastname: Singh
authors.forename: Renate
authors.initials: R
authors.lastname: Vöhringer
authors.forename: Timm
authors.initials: T
authors.lastname: Goecke
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Thomas
authors.initials: T
authors.lastname: Ruzicka
authors.forename: Gabriele
authors.initials: G
authors.lastname: Wildhardt
authors.forename: Thomas
authors.initials: T
authors.lastname: Meissner
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
mesh_terms: 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*
chemical_list: D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors