The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome

Am J Med Genet. 1982 Jan;11(1):113-9. doi: 10.1002/ajmg.1320110113.

Abstract

The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Humans
  • Infant, Newborn
  • Male
  • Micrognathism / genetics*
  • Middle Aged
  • Myopia / genetics*
  • Radiography
  • Retinal Diseases / genetics
  • Syndrome
  • Terminology as Topic