Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

Clin Genet. 1993 Aug;44(2):98-101. doi: 10.1111/j.1399-0004.1993.tb03855.x.


Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris. Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia and the neonatal respiratory distress are the most typical characteristics of this mental retardation syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Blepharophimosis*
  • Child
  • Female
  • Growth Disorders*
  • Humans
  • Infant
  • Microcephaly*
  • Psychomotor Disorders*
  • Syndrome