Kaufman oculocerebrofacial syndrome: case report

Am J Med Genet. 1979;3(1):15-9. doi: 10.1002/ajmg.1320030106.


The oculocerebrofacial syndrome was described from siblings of both sexes in 1971 by Kaufman. A 12-year-old child with a set of corresponding malformations is described. This would suggest that the original report did not describe a "private" syndrome.

Publication types

  • Case Reports

MeSH terms

  • Dermatoglyphics
  • Eye Abnormalities*
  • Face / abnormalities*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Phenotype
  • Syndrome