OCULOCEREBROCUTANEOUS SYNDROME - REPORT OF 3 ADDITIONAL CASES AND ETIOLOGIC CONSIDERATIONS

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