Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs.
We describe progressive spastic paraparesis of the lower limbs in the presence of generalized vitiligo, premature graying of body hair, and distinct facial appearance in 3 sibs whose parents are first cousins. The condition is considered an autosomal recessive trait. The pathogenesis of this neurocutaneous disorder is unknown.
D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D005260:Female; D006200:Hair Color; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012600:Scoliosis / Q000150:complications; D013577:Syndrome; D014820:Vitiligo / Q000150:complications / Q000235:genetics*