Genetic heterogeneity in the Waardenburg syndrome.
Waardenbury syndrome is divided into three groups: Type I, with dystopia; Type II, and "pseudo-Waardenburg" syndrome, without dystopia; the third has unilateral congenital ptosis. Using Waardenburg's original variables a, b and c, ratios a/b and c/a, Cotterman's L function, newly described indices X and Y and some phenotypic manifestations, a confident neat separation of each type can be obtained. New cases of all types and electron micrographs of the hair pigment anomaly are described.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000175:diagnosis; D005124:Eye Abnormalities; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000648:ultrastructure; D006801:Humans; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000473:pathology; D014849:Waardenburg Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology