Langer L O, Krassikoff N, Laxova R, Scheer-Williams M, Lutter L D, Gorlin R J, Jennings C G, Day D W
Am J Med Genet. 1984 Sep;19(1):81-112. doi: 10.1002/ajmg.1320190110.
We report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome.
我们报告了4例患有外生骨疣的毛发-鼻-指综合征（TRPSE）且无智力发育迟缓的患者，并回顾了32例先前发表的病例。这些数据有助于更全面地描述该综合征的表型，并记录临床和影像学表现的变异性。文中讨论了该综合征的遗传学信息及其与8号染色体长臂缺失（del(8q)）的关联，以及管理方法和进一步研究的途径。TRPSE患者智力的明显变异性，以及包括语言发育显著延迟和听力丧失在内的其他问题的高发生率，使得系统的多学科评估和长期治疗成为实现最佳治疗效果的必要条件。
