Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

Am J Med Genet. 1991 Sep 15;40(4):417-20. doi: 10.1002/ajmg.1320400407.
No abstract available

MeSH terms

  • Abnormalities, Multiple*
  • Anterior Chamber / abnormalities
  • Bone and Bones / abnormalities*
  • Face / abnormalities*
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Hydrocephalus / genetics*
  • Infant, Newborn
  • Male
  • Oculomotor Muscles / abnormalities*
  • Phenotype
  • Syndrome