Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome

J Med Genet. 1990 Jan;27(1):50-2. doi: 10.1136/jmg.27.1.50.


We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Brain / abnormalities*
  • Central Nervous System / abnormalities*
  • Consanguinity
  • Female
  • Fingers / abnormalities
  • Humans
  • Hydrocephalus / pathology
  • Infant, Newborn
  • Male
  • Polyhydramnios
  • Pregnancy
  • Syndrome