发鼻指（趾）综合征（附一家族四例报告）

Trichorhinophalangeal Syndrome (Report of 4 Cases in Two Generations of One Family)

作者报告了一家族２代４例发鼻指（趾）综合征的临床Ｘ线表现。本综合征的病理基础是干骺软骨形成障碍伴外胚层发育不良。软骨发育障碍主要累及指（趾）骨的骨骺软骨板，导致锥形骨骺的形成及骺线早闭，肢端短粗畸形。结合文献讨论了本病的基本Ｘ线表现与病理基础。提出诊断要点和两髂骨耳状面三角形或月牙形骨质致密硬化可能是Ｘ线诊断的重要线索。

Four cases of trichorhinophalangeal syndrome in two generations of one family were reported.The clinical and X-ray findings were described.The pathological basis of the syn-drome was metaphysical dyschondroplasia combined with ectodermal dysplasia. The pathological changes mainly involved on the epiphyseal cartilage plates of the fingers and toes rexulting in cone-shaped epiphyses and early closure of the epiphyseal line with shortening of the limb-end The rela-tionship between the basic X-ray findings and the pathological basis was discussed.The main points of diagnosis were suggested.The authors proposed that the triangular or semilunar shaped sclerosis in the ear-like articular surfaces of both ilia may be a clue to radiologic diagnosis of tri-chorhinophalangeal syndrome.