Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?

Am J Med Genet. 1997 Jan 10;68(1):39-42. doi: 10.1002/(sici)1096-8628(19970110)68:1<39::aid-ajmg7>3.0.co;2-t.

Abstract

We report on a patient with multiple congenital anomalies including anophthalmia, cleft lip and palate, and central nervous system anomalies similar to the case reported by Leichtman et al. [1994: Am J Med Genet 50:39-41] and to oculocerebrocutaneous (Delleman) syndrome. Although the two cases and those with oculocerebrocutaneous syndrome may represent separate but overlapping entities, our patient and the case described by Leichtman et al. [1994: Am J Med Genet 50:39-41] may represent a more severe form of oculocerebrocutaneous syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Anophthalmos / pathology*
  • Brain Diseases / pathology*
  • Cleft Lip / pathology*
  • Cleft Palate / pathology*
  • Cysts / pathology*
  • Humans
  • Infant
  • Male
  • Phenotype