Disorder characterized by gingival fibromatosis, a reduction of pigment in the skin and eyes, microphthalmia, nystagmus, cloudy corneas, writhing movements of the arms and legs, a highly pitched cry, gingival fibromatosis and severe mental retardation. Frequently associated with growth retardation, coarse nystagmus, and cryptorchism. Malignant tumours of the skin can be a complication. Present from birth. Very rare, described in three siblings with consanguinic parents. Inheritance is autosomal recessive.
- H. E. Cross, V. A. McKusick, W. Breen:
A new oculocerebral syndrome with hypopigmentation.
Journal of Pediatrics, St. Louis, 1967, 70: 398-406.
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