Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: report of two sibs.
Three- and four-year-old brothers, ostensibly with a nonprogressive spastic quadriparesis, had retinitis pigmentosa and mental retardation. One had clinical deafness. The brothers showed little developmental progress in infancy and exhibited deterioration in childhood. Known metabolic and acquired causes were excluded. Although they have some features of several other syndromes,the condition reported here is unique.
D000375:Aging; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D007178:Inbreeding; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011782:Quadriplegia / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*