Itin P H, Bohn S, Mathys D, Guggenheim R, Richard G
Department of Dermatology, University of Basel, Switzerland.
Dermatology. 1996;193(4):349-52. doi: 10.1159/000246290.
Trichorhinophalangeal syndrome (TRPS) type III is a newly defined clinical entity. This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse hair. In addition, absence of mental retardation and cartilaginous exostoses are required for the diagnosis of TRPS III. To further delineate this newly recognized entity, we report on a patient from a Turkish family segregating TRPS III in 7 family members. The patient had a very short stature (147 cm, < 3rd standard deviation), a thin upper lip and a prominent lower lip, a pear-shaped nose, stubby fingers and toes with cone-shaped epiphyses and sparse scalp hair. Scanning electron microscopy findings and results of energy-dispersive X-ray microanalysis are presented in such a patient for the first time.
III型毛发鼻指综合征（TRPS）是一种新定义的临床病症。这种症状复合体以常染色体显性性状遗传，临床特征为生长发育迟缓、颅面异常、严重短指（趾）畸形和毛发稀疏。此外，TRPS III的诊断需要不存在智力发育迟缓以及软骨外生骨疣。为了进一步描述这一新发现的病症，我们报告了一名来自土耳其家庭的患者，该家庭中有7名成员患有TRPS III。该患者身材非常矮小（147厘米，低于第3标准差），上唇薄，下唇突出，鼻子呈梨形，手指和脚趾短粗，骨骺呈锥形，头皮毛发稀疏。首次展示了该患者的扫描电子显微镜检查结果和能量色散X射线微分析结果。
