Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.
D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000151:congenital*; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D013577:Syndrome