Kaufman oculocerebrofacial syndrome in a girl of 15 years

Am J Med Genet. 1995 Jul 31;58(1):21-3. doi: 10.1002/ajmg.1320580106.

Abstract

Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Facial Bones / abnormalities*
  • Facial Bones / diagnostic imaging
  • Female
  • Foot Deformities, Congenital / diagnosis
  • Foot Deformities, Congenital / genetics*
  • Genes, Recessive
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Male
  • Phenotype
  • Radiography
  • Syndrome