Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428.

Abstract

We describe 3 young children with Hallermann-Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann-Streiff syndrome and oculodentodigital dysplasia. "Dwarfism" as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Eye Abnormalities / genetics
  • Female
  • Genes, Dominant
  • Hallermann's Syndrome / diagnosis*
  • Hallermann's Syndrome / genetics
  • Hallermann's Syndrome / psychology
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Syndactyly / genetics
  • Tooth Abnormalities / genetics