脊椎胸廓發育不良症二病例報告

Spondylothoracic Dysplasia Two Cases Report

曾紹宗(Shao-Tsung Tseng) ； 趙鈞生(Kung-Shing Chao) ； 李標柏(Piau-Po Lee)

《Acta Paediatrica Sinica》 27卷5期 (1986/10) Pp. 462-465

摘要

本文係報告兩例脊椎胸廓發育不良症，一名男嬰，一名女嬰，從出生卽被發現頸部短小，水桶胸，腹部膨出，X光檢查均可發現廣泛的半脊椎及脊椎裂，脊椎骨數目減少和螃蟹樣的胸廓，男嬰並具有明顯的腹股溝疝氣，兩例各於17天及25天死亡。脊椎胸廓發育不良症係一罕見先天畸型，筆者參考文獻將其歷史，病因，臨床症狀，發生率，診斷方法和類型作一討論，以供參考。

並列摘要

Spondylothoracic dysplasia is a very rare anomaly. Most cases were found in Puerto Ricans. The minimal diagnostic criteria are severe vertebral dysplasia and fusion giving markedly short trunk and crab-like radiographic appearance. The mode of inheritance is mostly autosomal recessive. The condition is lethal in infancy. It was first described by Jarcho-Levin. Two cases of spondylothoracic dysplasia were observed in our hospital. One was male and the other was female. They were found to have many anomalies including prominent occiput, short neck with the chin resting on the chest, short trunk, crab-like radiographic appearance of the thorax, protuberant abdomen, hemivertehrae and reduction of ribs. Chromosomal studies and laboratory examination were within normal limits. The male newborn died at 17 days of age due to respiratory failure. The female newborn died at 25 days of age.

並列關鍵字

spondylothoracic dysplasia ； hemivertebra ； markedly short trunk ； crab-like radiographic appearance