Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.

Total: 1

(per page)

PMID (PMCID)
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.
	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.