Article
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Journal of medical genetics - 1 Dec 2005
Moog U, Jones M C, Bird L M, Dobyns W B
Abstract excerpt
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....
Topics
- Abnormalities, Multiple
- Adolescent
- Brain
- Child, Preschool
- Eye Abnormalities
- Female
- Humans
- Infant
- Male
- Musculoskeletal Abnormalities
- Nervous System Malformations
- Phenotype
- Skin Abnormalities
- Syndrome