- 期刊
Arthrogryposis Multiplex Congenita: Report of a Case of Amyoplasia
多發性先天性關節彎曲：一肌發育不全病例報告
摘要
多發性先天性關節彎曲是一種先天性畸形，有多種疾病多可以合併有這種先天性畸形。對有這種畸形的患童，臨床醫師須加以鑑別診斷，以利日後之治療、預後及遺傳諮詢。在此我們提出一病例報告，病嬰為一40天大之男嬰，出生後即發現有多處之關節彎曲，包含兩側肩部內旋、肘部屈曲、腕部屈曲前旋、髖部屈曲、內轉，及兩側馬蹄形內翻足。入院後，予以安排腦部超音波，心臟超音波，肌肉超音波及肌肉切片檢查；其結果皆為正常。染色體檢查為46,XY。患嬰在外貌上有典型之圓臉，顏面部微血管性血管瘤，頷部較小，且鼻部朝上；所以我們診斷此病嬰為肌發育不全(amyoplasia)。此病是偶發性，並不會遺傳；且患嬰之智力是正常的。及早復健可防止進一步之關節彎曲及肌肉之萎縮，並增加活動性。經適當之治療，患童大多可過正常之生活。
關鍵字
文摘並列摘要
Arthrogryposis multiplex congenita is a congenital syndrome characterized by multiple congenital joint contractures; and refers to a large heterogenous group of disorders. We present a 40 days old male baby who has had multiple fixed contractures of joints since birth. Midline capillary hemangioma, internal rotation of bilateral shoulders, extension contracture of elbows, flexed wrists with pronation deformity, flexsion and internal rotation of hips, equinovarus of feet were noted. A series of examinations for differential diagnosis including brain sonogram, echocardiogram, muscle echogram, muscle biopsy, chromosome study were performed and all showed normal findings. Amyoplasia was impressed. Early rehabilitation was arranged. Normal intelligence and a normal life span are expected.