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The trichothiodystrophy syndrome of Pollitt

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Abstract

Trichothiodystrophy, or sulphur-deficient brittle hair, is a clinical marker for a syndrome that consists primarily of cystine (and hence sulphur)-deficient brittle hair, nail dysplasia, mental and physical retardation and decreased fertility. The radiological aspects of this syndrome have received scant mention in the literature. I describe a 5-year-old boy whose skeleton exhibits axial osteosclerosis and peripheral osteopenia which is similar to two other previously described cases.

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Chapman, S. The trichothiodystrophy syndrome of Pollitt. Pediatr Radiol 18, 154–156 (1988). https://doi.org/10.1007/BF02387560

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  • DOI: https://doi.org/10.1007/BF02387560

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