Total: 1 |
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PMID (PMCID) | ||
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3438055 |
MALE | Child |
Waardenburg syndrome: a variant with neurological involvement. | ||
Kawabata E, Ohba N, Nakamura A, Izumo S, Osame M. Ophthalmic Paediatr Genet. 1987;8(3):165-70. |
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A 13-year-old boy with features of Waardenburg syndrome consisting of facial anomalies, heterochromia of the iris and fundus, and congenital sensorineural deafness had a marked mental and motor retardation and developed severe gait disturbance associated with neurological abnormalities including dystonia, muscular stiffness and peripheral neuropathy. |