title: Pigmentary anomalies and hearing loss.
abstract: A number of syndromes that include hearing loss in the phenotype also have pigmentary anomalies as a component manifestation. One of the most common of these is Waardenburg syndrome, which includes hypopigmentation and sensorineural hearing loss in the phenotype. There are four types of Waardenburg syndrome, distinguishable from each other by clinical findings. However, there are several other syndromes which include not only hypopigmentation, but also hyperpigmentation in the phenotype. This paper serves as a review of many of these syndromes.
authors.affiliation: Genetics Services, Spectrum Health Hospitals, and College of Human Medicine, Michigan State University, Grand Rapids, Mich., USA.
authors.forename: Helga V
authors.initials: HV
authors.lastname: Toriello
mesh_terms: D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000235:genetics