Waardenburg syndrome: A variant with neurological involvement
- 1 January 1987
- journal article
- case report
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 8 (3) , 165-170
- https://doi.org/10.3109/13816818709031463
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.Keywords
This publication has 2 references indexed in Scilit:
- Historical background and evidence for dominant inheritance of the Klein‐Waardenburg syndrome (type III)American Journal of Medical Genetics, 1983
- Upper limb involvement in the Klein‐Waardenburg syndromeAmerican Journal of Medical Genetics, 1982