Overlap between Majewski and hydrolethalus syndromes: a report of two cases

Am J Med Genet. 1992 Aug 1;43(6):949-53. doi: 10.1002/ajmg.1320430609.

Abstract

We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fetus / pathology
  • Humans
  • Hydrocephalus / complications*
  • Hydrocephalus / genetics
  • Hydrocephalus / pathology
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology
  • Phenotype
  • Pregnancy
  • Short Rib-Polydactyly Syndrome / complications*
  • Short Rib-Polydactyly Syndrome / genetics
  • Short Rib-Polydactyly Syndrome / pathology
  • Syndrome