Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

ABSTRACT:

Background

Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males.

Objective

To evaluate the brain imaging studies, clinical records, photographs, and pathological material of two new and nine previously reported cases of OCCS.

Results

There was a consistent pattern of malformations in eight of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydro

SUBMITTER: Moog U 

PROVIDER: S-EPMC1735958 | biostudies-literature | 2005 Dec

REPOSITORIES: biostudies-literature