title: Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.
abstract: A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications; D005260:Female; D005799:Genes, Dominant; D006200:Hair Color; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009666:Nose; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D012880:Skin Pigmentation; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology