Ocular, cerebral and cutaneous malformations: confirmation of an association

Clin Genet. 1984 May;25(5):464-9. doi: 10.1111/j.1399-0004.1984.tb02018.x.

Abstract

A newborn with multiple congenital abnormalities including an orbital cyst, cerebral cysts, skin tags and focal dermal defects is described. This case is similar to two patients reported by Delleman & Oorthuys in 1981 under the designation "Oculo-cerebro-cutaneous syndrome." Features common to other syndromes are discussed and additional cases with some similarities are also presented. The occurrence of this process in a new population and the cited variability helps confirm and define this association.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Brain / abnormalities*
  • Cerebellar Diseases / congenital
  • Cysts / congenital
  • Eye Abnormalities*
  • Eye Diseases / congenital
  • Humans
  • Infant, Newborn
  • Male
  • Skin Abnormalities*
  • Syndrome
  • Tomography, X-Ray Computed