George S, Pulimood S, Korah I
Department of Dermatology, Christian Medical College and Hospital, Vellore, Tamilnadu, South India.
J Eur Acad Dermatol Venereol. 1998 Jul;11(1):66-8.
A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.
报告了一名32岁身材矮小的女性，患有脱发、典型面容、手指和脚趾短且呈角状，诊断为I型毛发鼻指综合征（TRPS I）。无骨软骨瘤和智力发育迟缓可排除TRPS II。所有指骨、掌骨和跖骨均无全身性短小可将其与TRPS III区分开来。各种类型的毛发鼻指综合征可能在基因上是相同的，但具有不同的临床谱。
