Chapman S
Department of Radiology, Children's Hospital, Birmingham, UK.
Pediatr Radiol. 1988;18(2):154-6. doi: 10.1007/BF02387560.
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.
毛发硫营养不良症，即缺硫性脆发症，是一种综合征的临床标志，该综合征主要包括胱氨酸（因而含硫）缺乏性脆发、指甲发育异常、智力和身体发育迟缓以及生育能力下降。该综合征的放射学表现，在文献中鲜有提及。我描述了一名5岁男孩，其骨骼表现为中轴骨硬化和外周骨质减少，这与之前描述的另外两例病例相似。
