During the course of a survey for neurologic disorders in a genetic isolate, three sibs with an unusual oculocerebral syndrome were found. The syndrome is manifest at birth by cutaneous hypopigmentation and severe ocular anomalies. Spasticity, mental retardation, and athetoid movements become apparent at several months of age. Genetic evidence suggests autosomal recessive inheritance. Since no cases have been reported with a similar combination of findings, this family is believed to represent a "new" genetic disorder.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health