Genetic heterogeneity in the Waardenburg syndrome

Birth Defects Orig Artic Ser. 1971 Mar;07(4):87-101.

Abstract

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.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Blepharoptosis / complications
  • Child
  • Child, Preschool
  • Congenital Abnormalities / diagnosis
  • Eye Abnormalities
  • Female
  • Genes, Dominant
  • Hair / ultrastructure
  • Humans
  • Male
  • Pedigree
  • Pigmentation Disorders / pathology
  • Waardenburg Syndrome / complications
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology