致死性侏儒症－病例報告

Thanatophoric Dwarfism-Case Report

龐海麟(Hei-Lin Pang) ； 李三剛(San-Kan Lee) ； 周定遠(Ting-Twan Chou) ； 陳竹安(Chu-An Chen) ； 陳大安(Da-Ann Chen)

《中華放射線醫學雜誌》 13卷1期 (1988/03) Pp. 107-112

摘要

致死性侏儒症(thanatophoric dwarfism)是一種短肢侏儒畸型，通常在出生後很短的時間內死亡。民國72年三軍總醫院發現一例，於產前超音波檢查呈現肢體較短，頭很大，較窄的胸腔，軟組識腫脹和羊水過多現象。病人於診斷後，經引產胎兒在出生後3天死亡。今年空軍總醫院發現一例，於出生後一個多小時死亡，我們研判分析此兩例之臨床與X光發現，並回溯一些文獻，以供大家參考。

關鍵字

侏儒症

並列摘要

Thanatophoric dwarfism is a short-limb dwarf condition which usually results in death shortly after birth. Previously, it was mistaken as a severe type of achondroplasia due to similaly manifesting features. However, it could be disting-uished from the following findings: 1. Extreme flatness of the vertebral bodies, with excessive dimension of the intervertebral spaces. 2. Very short and bowed tubular bones with telephone receiver appearance, particularly in the lower extremities. 3. Irregular contour and frequently cupping change in metaphysis. These characteristic bony changes make the diagnosis easily from the x-ray films. It'is a congenital anomaly with possible genetic mutation causing developmental error since early intrauterine conception this makes the diagnosis feasible with aids of ultrasound before birth. Here we reported two cases of thanatophoric dwarfism with typical roentgenologic findings, one case was diagnosed early in the uterus by ultrasound.

並列關鍵字

dwarfism