The Stickler syndrome (hereditary arthro-ophthalmopathy)

Clin Genet. 1977 Sep;12(3):179-82. doi: 10.1111/j.1399-0004.1977.tb00921.x.

Abstract

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child Development
  • Child, Preschool
  • Cleft Palate / genetics
  • Eye Abnormalities*
  • Face / abnormalities*
  • Female
  • Humans
  • Infant
  • Joints / abnormalities*
  • Male
  • Myopia / genetics
  • Pierre Robin Syndrome / genetics
  • Pregnancy
  • Pregnancy Complications