Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother

Am J Med Genet. 1988 Aug;30(4):925-8. doi: 10.1002/ajmg.1320300408.


This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a supraorbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Down Syndrome / complications*
  • Down Syndrome / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Nose / abnormalities
  • Orbit / abnormalities
  • Pregnancy
  • Pregnancy in Diabetics