Murrin K L, Clarke D J
Lea Castle Centre, Kidderminster, UK.
J Intellect Disabil Res. 2002 Mar;46(Pt 3):273-8. doi: 10.1046/j.1365-2788.2002.00369.x.
In 1968, R. J. Pollitt and colleagues described a syndrome characterized by abnormally brittle, sulphur-deficient hair (trichothiodystrophy), intellectual disability (ID) and growth retardation. One of the two siblings originally described by the above authors has recently been re-assessed by the present authors following a referral for advice about ritualistic behaviours. Her current clinical features are described, and the literature concerning trichothiodystrophy and ID is summarized.
1968年,R. J. 波利特及其同事描述了一种综合征,其特征为头发异常脆弱、缺硫(毛发硫营养不良)、智力残疾和生长发育迟缓。上述作者最初描述的两名兄弟姐妹中的一人,最近在因仪式行为问题前来咨询时,被本文作者重新评估。本文描述了她目前的临床特征,并总结了有关毛发硫营养不良和智力残疾的文献。