多发性先天性关节病(AMC)是一种罕见的疾病,从出生起就存在,其特征是肌肉衰弱和多个关节挛缩。我们介绍了一个患有AMC的2岁男孩的案例,他出生在沙特阿拉伯。他表现出四肢肌肉骨骼异常,包括身体多个关节的对称挛缩,双侧发育性髋关节发育不良,和垂直距骨。畸形特征包括低沉的耳朵,下巴衰退,三角形的脸,脸上还有痣.这个孩子也有乳糖不耐受,胃炎,腹股沟疝,和右侧隐伏的睾丸.在多学科小组讨论后,计划了手术干预措施。此病例报告强调了所有四肢受累的AMC的良好预后,以及全面体检和多学科方法对AMC的诊断和管理的重要性。
Arthrogryposis multiplex congenita (AMC) is an uncommon condition present from birth that is marked by a combination of weakened muscles and multiple joint contractures. We present a
case of a 2-year-old boy with AMC, who was born to consanguineous parents in Saudi Arabia. He presented with musculoskeletal abnormalities of all four limbs, including symmetric contractures in multiple joints of the body, bilateral developmental dysplasia of the hip, and vertical talus. Dysmorphic features included low-set ears, chin recession, triangular face, and nevus flammeus on the face. The child also had lactose intolerance, gastritis, inguinal hernia, and right-sided undescended testis. Surgical interventions were planned after a multidisciplinary team discussion. This
case report highlights the good prognosis of AMC with all four-limb involvement and the importance of a thorough physical examination and a multidisciplinary approach to the diagnosis and management of AMC.