Wiedemann-Steiner syndrome: three further cases

Am J Med Genet A. 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587.

Abstract

We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. These patients expand the phenotype of the Wiedemann-Steiner syndrome and delineate it as an entity.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Humans
  • Intellectual Disability
  • Male
  • Psychomotor Disorders