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Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.

Authors
  • Moog, U
  • de Die-Smulders, C
  • Systermans, J M
  • Cobben, J M
Type
Published Article
Journal
Clinical genetics
Publication Date
Oct 01, 1997
Volume
52
Issue
4
Pages
219–225
Identifiers
PMID: 9383027
Source
Medline
License
Unknown

Abstract

The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and microphthalmia/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations. Most of the patients suffer from psychomotor retardation and seizures. To date, 23 patients in total have been reported. We report on three additional cases which illustrate the broad clinical spectrum of this disorder. In one case, the differentiation between OCC syndrome and encephalocraniocutaneous lipomatosis was difficult. A brief review of the clinical features of OCC syndrome is given. Possible aetiological hypotheses are discussed, namely survival of a lethal mutation by mosaicism, an autosomal dominant mutation and external causal factors. Disruption of the anterior neuroectodermal plate seems to be the most probable pathogenic mechanism.

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