The trichothiodystrophy syndrome of Pollitt.

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.

• Authors: S Chapman
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 18 Issue 2 Pg. 154-6 ( 1988) ISSN: 0301-0449 [Print] Germany
• PMID: 3353149 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cystine

Topics

• Bone Diseases, Metabolic
• Child, Preschool
• Cystine (deficiency)
• Dwarfism
• Hair (abnormalities)
• Humans
• Intellectual Disability
• Male
• Osteosclerosis
• Syndrome