Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome

Am J Med Genet. 1984 Oct;19(2):391-4. doi: 10.1002/ajmg.1320190223.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities
  • Consanguinity
  • Facial Expression*
  • Genes, Lethal
  • Genes, Recessive
  • Genitalia, Male / abnormalities
  • Humans
  • Hydrocephalus / genetics*
  • Infant, Newborn
  • Male
  • Syndrome
  • Transposition of Great Vessels / genetics*