title: Waardenburg Syndrome type 1: A case report.
abstract: Waardenburg Syndrome (WS) is a rare hereditary disorder that is characterized by the clinical manifestations of oculocutaneous anomalies of pigmentation, congenital deafness, dystopia canthorum, and broad nasal root. It demonstrates both genetically and clinically heterogenous characteristics. In this article, we report an 11-month-old boy with WS1, one of four clinicat types of WS. He exhibited white forelock, hypopigmented macules and patches, heterochromia irides, and dystopia canthorum.
authors.affiliation: Şişli Etfal Training and Research Hospital, Istanbul, Turkey.
authors.forename: Gulsen Tukenmez
authors.initials: GT
authors.lastname: Demirci
authors.forename: Guldehan
authors.initials: G
authors.lastname: Atıs
authors.forename: Ilknur Kıvanc
authors.initials: IK
authors.lastname: Altunay
mesh_terms: D000886:Anthropometry; D006200:Hair Color; D006801:Humans; D006972:Hypertelorism / Q000209:etiology; D007223:Infant; D007499:Iris Diseases / Q000209:etiology; D008297:Male; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D019683:Penetrance; D010641:Phenotype; D016116:Piebaldism / Q000209:etiology; D010859:Pigmentation Disorders / Q000209:etiology; D014849:Waardenburg Syndrome / Q000235:genetics / Q000473:pathology
chemical_list: D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors