title: Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.
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.
authors.affiliation: Department of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.
authors.forename: U
authors.initials: U
authors.lastname: Moog
authors.forename: C
authors.initials: C
authors.lastname: de Die-Smulders
authors.forename: J M
authors.initials: JM
authors.lastname: Systermans
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology* / Q000473:pathology; D000853:Anophthalmos / Q000209:etiology; D001921:Brain / Q000002:abnormalities*; D003103:Coloboma / Q000209:etiology; D003560:Cysts / Q000209:etiology; D003616:Dandy-Walker Syndrome / Q000209:etiology; D004200:Diseases in Twins; D004827:Epilepsy / Q000209:etiology; D005124:Eye Abnormalities / Q000209:etiology* / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D008850:Microphthalmos / Q000209:etiology; D009432:Neural Crest / Q000473:pathology; D009916:Orbital Diseases / Q000209:etiology; D012868:Skin Abnormalities / Q000209:etiology* / Q000473:pathology; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014429:Twins, Dizygotic