毛发-鼻-指（趾）综合征一例

Tricho-rhino.phalangeal syndrome： a case report

报道1例毛发-鼻-指（趾）综合征。患者男，18岁。表现为毛发稀疏、生长缓慢，鼻肥大呈梨形，鼻唇沟宽而长、上唇薄、牙列不整齐，双足第4、5趾骨内收，双拇趾变短，活动无异常，指、趾甲薄，无智力发育异常。显微镜下见毛发近端渐变细，直径较正常人毛发细。手足X线显示双手指骨基本正常，双足第一跖骨、趾骨略短，内侧楔骨略长，部分趾骨骨骺呈锥形改变。

A case of tricho-rhino-phalangeal syndrome is reported. An 18-year-old man presented with sparse, slowly-growing scalp hairs, pear-shaped hypertrophic nose, prominent nasolabial fold, thin upper lip, irregular dentition, dystrophic nails, adduction of phalanges of the fifth and fourth toes, shortness of both big loes with no functional abnormality. No mental retardation was recognized. Microscopy revealed a gradual thimaing at the proximal end of hairs with a decreased diameter. X-ray examination of hands and feet demonstrated no abnormality in the phalanges of either hand, slight shortness of the first metatarsal bone and phalanges of the big toe, slight elongation of medial cuneiform bone, conical epiphysis on the phalanges of sonic toes.