Provisionally unique autosomal recessive chondrodysplasia punctata syndrome

Am J Med Genet. 1993 Oct 1;47(5):797-9. doi: 10.1002/ajmg.1320470539.


Stippled epiphyses occur in several monogenic, teratogenic, or aneuploidy syndromes. We describe two sibs with a provisionally unique chondrodysplasia punctata syndrome, who have, in addition to stippled epiphyses, minor facial anomalies, short stature, and ocular colobomata. Inheritance of this condition is likely autosomal recessive.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Child, Preschool
  • Chondrodysplasia Punctata / genetics*
  • Coloboma / genetics
  • Face / abnormalities
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics
  • Humans
  • Iris / abnormalities
  • Male