Related Experiment Videos
Waardenburg syndrome: a variant with neurological involvement
E Kawabata1, N Ohba, A Nakamura
1Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
Ophthalmic Paediatrics and Genetics
|November 1, 1987
Abstract:
A case of a variant of Waardenburg syndrome is reported. 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. Sural nerve biopsy revealed 'onion bulb' formation.