Yang M T, Chen C H, Mak S C, Wu K H, Chi C S
Department of Pediatrics, Taichung Veterans General Hospital, Taipei, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Mar-Apr;34(2):132-6.
Arthrogryposis multiplex congenita is a congenital syndrome characterized by multiple congenital joint contractures; and refers to a large heterogeneous 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, flexion 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.
先天性多发性关节挛缩症是一种以多发性先天性关节挛缩为特征的先天性综合征，指的是一大类异质性疾病。我们报告一名40天大的男婴，自出生以来就有多处关节固定挛缩。发现有中线毛细血管瘤、双侧肩部内旋、肘部伸展挛缩、手腕屈曲伴旋前畸形、髋部屈曲和内旋、马蹄内翻足。进行了一系列鉴别诊断检查，包括脑部超声、超声心动图、肌肉超声、肌肉活检、染色体研究，所有结果均正常。考虑为先天性肌无力。已安排早期康复治疗。预计智力正常，寿命正常。
