A Clinical Observation of Achondroplasia

軟骨發育不全侏儒之臨床觀察

胡務亮(Wuh-Ling Hwu) ； 王作仁(Tso-Ren Wang)

《Acta Paediatrica Sinica》 32卷4期 (1991/08) Pp. 208-213

摘要

我們分析在3年中遇到的25例軟骨發育不全侏儒。其中有17例是男性，8例是女性。有12例（48%）在滿1歲前即來求診。家族性垂直遺傳的只有3例(12%)，而其他的均由新的突變所產生。患者大多有典型的四肢近端短小，大頭，前額突出，以及三叉戟狀手。他們的身高大約比正常生長曲線的第50個百分位數低4個標差準。有幾位患者的頭圍大於正常生長曲線的第97個百分位數，可是在軟骨發育不全侏儒患者特有的生長曲線中，這些頭圍是正常的。我們的病人均沒有智力的問題。7位年齡大於5歲的病人中，有3位有嚴重的小腿彎曲及駝背，其中最老的一位（17歲）有下肢神經壓迫的症狀。對於軟骨發育不全侏儒患者的遺傳諮詢以及其併發症的處理是很重要的。

並列摘要

Twenty-five cases of achondroplasia followed for a period of recent three years are reviewed. There were 17 males and 8 females. Twelve cases (48%) visited us before one year old. Familial vertical transmissions were noted in only three patients (12%) and others were new mutations. Patients usually had typical rhizomelic short stature, large head, frontal bossing and trident fingers. Their heights were around four standard deviations below the 50th percentile of the normal growth curve. The head girths of several patients were above the 97th percentile of the normal growth curve, but were normal in a special growth chart for achondroplasia. No mental problem was noted in our patients. Three of the seven patients older than five years had severe leg bowing and kyphosis, and the oldest one (17 years old) had nerve compression symptoms. Genetic counselling and the management of complications in achondroplasia are important.

並列關鍵字

achondroplasia ； rhizomelic short stature ； growth index