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

Brad Angle*, Joseph H. Hersh

*Corresponding author for this work

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)39-42
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume68
Issue number1
DOIs
StatePublished - Jan 10 1997

Keywords

  • Delleman syndrome
  • anophthalmia
  • cerebral malformations
  • cleft lip/palate
  • oculocerebrocutaneous syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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