BraChman-deLangeSyndrome：病例報告及文獻回顧

Brachmann-de Lange Syndrome: Case Report and Clinical Review

賴慧貞(Huey-Jen Lay) ； 許家楨(Chia-Chen Hsu)

《中華民國復健醫學會雜誌》 23卷1期 (1995/06) Pp. 65-70

摘要

Brachmann-deLange syndrome。包括一、先天性畸形;二．生長遲緩;三、神經發展遲滯等三大特徵。其致病原因不明，一般為散發性．但極少數患者被發現第三對染色體q段有重新組合的現象或其它遺傳証據。本病例屬於典型的Brachmann-deLange syndrome”，有中間顏色較淡的眉毛融合．較同年齡兒童長的睫毛，寬而低的鼻樑，鼻夫上翹，長人中，薄上唇．嘴角下管，外耳道狹窄等臉部特徵;雙肘及兩側第二至五指間關節擘縮；頭胸圍，身高和體重皆在正常範圍百分之三以下；粗動作，細動作，語言及社會心理發展皆明顯遲緩。
有鑑於國外病歷報告並不少見，甚至有家長協會的成立，且有早期療癒價值；故回顧文獻資料以期能提高醫師的診斷力。

關鍵字

先天性畸形 ； 生長遲緩 ； 神經發展

並列摘要

The diagnostic criteria of Brachmann-de Lange syndrome includes: 1. congenital malformations; 2. growth retardation; 3. neurodevelopmental delay. The prevalence estimated by Beck(1976) was 0.5/100,000, but as much as fivefold by
Opitz(1985). The etiology remains unknown. Although a few cases had evidence of genetic origin, the majorities were sporadic. Here we reported is a case with classic Brachmann-de Lange syndrome. He has classic facial features including synophrys, long eyelashes, log philtrum, thin upper lip and downturned corners of the mouth. Flexion contracture over bilateral elbow and hands are noted The head circomference, height and body weight and body weight are all below 3rd percentile of normal curvature. Marked delay of developmental mile stones including gross motor, fine motor, speech and psychosocial developments are noted. Since early intervention of developmental defecit is very important in these patients, it is reported, and literatures reviewed.

並列關鍵字

de Lange syndrome ； congenital malformation ； growth retardation ； neurodevlopmental delay