高登翰症候羣：四病例報告

Goldenhar Syndrome: Four Cases Report

廖仲達(Chung-Dar Liao) ； 邱寶琴(Bao-Chin Chiou) ； 陳淑真(Shu-Jen Chen) ； 黃碧桃(Betau Hwang) ； 刁翠美(Tsuey-Meei Diau) ； 許紋銘(Wen-Ming Hsu)

《Acta Paediatrica Sinica》 28卷6期 (1987/12) Pp. 481-487

摘要

臺北榮總自民國57年至76年，19年間共計有“高登翰症侯羣”病人4例（兒科1例，眼科3例），包括男2例，女2例。主要臨床異常包括(1)眼睛：以眼球上皮囊瘤(epibulbar dermoid)為最常見，3例中雙側2例，單側1例。其他如上眼瞼缺損，裘安氏眼內縮症(Duane's retraction syndrome)，水晶體鬆弛；白內障與小眼症各1例。(2)耳朵：以耳前皮膚懸垂物(preauricular skin tags)為最常見，4例中單，雙側各2例。其他如小耳或畸形耳，耳前盲端瘻管，外耳孔道閉鎖合併聽力受損各2例。(3)臉部：以平側下頜骨發育不全合併臉部畸形最多，4例中，左右各半。(4)脊椎：脊椎裂最常見，3例之位置分別在C7, L5~S2與S1~S2。殘餘性第七頸椎與腰椎側彎或後凸各2例，頸背脊椎側彎與頸肋骨各1例。(5)心肺血管系統：1例具有左位上腔靜脈，二尖群脫垂與左肺發育不全。此四例均無家族史且染色體正常。

並列摘要

Goldenbar syndrome is a rare congenital anomaly characterized by face, eye, ear and vertebrae involvement. It was first described by Goldenhar as ”Goldenhar syndrome” in 1952 and was renamed as ”Oculoauriculovertebral dysplasia” by Gorlin in 1963. In our report, four cases of Goldenhar syndrome are presented and clinical features analysed retrospectively from 1968 to 1987 in Taipei Veterans General Hospital. Two patients are female and two male. The more frequent clinical presenting anomalities in these patients are (1) eye: epibulbar dermoid (3/4, 75%) with bilateral involvement predominant (2/3, 65%). (2) ear: preauricular skin tags (4/4, 100%). (3) mandible: unilateral hypoplasia or absence of mandible with asymmetric facial deformity (4/4, 100%). (4) vertebrae: spina bifida (3/4, 75%) and rudimentary C7 (&/or cervical rib, C7) (3/4, 75%). One case with cardiovascular anomalities showed left side superior vena cava, mitral valve prolapse and left lung hypoplasia. No hereditary model nor chromosome anomalities noted in our four patients.

並列關鍵字

Goldenhar syndrome ； Goldenhar-Gorlin syndrome ； Oculoauriculovertebrald ysplasia (0. A. V. syndrome)