Oculocerebrocutaneous syndrome

Am J Ophthalmol. 1985 Feb 15;99(2):142-8. doi: 10.1016/0002-9394(85)90222-3.

Abstract

A female infant was found at birth to have an oculocerebrocutaneous syndrome in which the main clinical features include orbital cyst, cerebral malformations, accessory skin tags, and focal hypoplasia or "punched-out" skin lesions. This case, like the four previously reported, was sporadic.

Publication types

  • Case Reports

MeSH terms

  • Brain / abnormalities*
  • Cysts / congenital*
  • Female
  • Hamartoma / congenital*
  • Humans
  • Infant, Newborn
  • Orbital Neoplasms / congenital*
  • Skin Abnormalities*
  • Syndrome