Kaufman oculocerebrofacial syndrome in a girl of 15 years

V. Briscioli, S. Manoukian, A. Selicorni, E. Livini, F. Lalatta

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)21-23
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume58
Issue number1
DOIs
Publication statusPublished - 1995

Keywords

  • autosomal recessive
  • mental retardation
  • ocular anomalies
  • skeletal anomalies

ASJC Scopus subject areas

  • Genetics(clinical)

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