Waseem Asfia, Shah Aresha Masood, Hussain Abbas Ali, Kumar Sumeet, Fatima Kiran
Department of Internal Medicine, Civil Hospital Karachi, Karachi, SD, Pakistan.
Department of Internal Medicine, Jinnah Post Graduate Medical Centre, Karachi, SD, Pakistan.
SAGE Open Med Case Rep. 2023 Sep 26;11:2050313X231200418. doi: 10.1177/2050313X231200418. eCollection 2023.
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.
先天性多发性关节挛缩症（AMC）是一种出生时就存在的罕见病症，其特征是肌肉无力和多个关节挛缩并存。我们报告一例患有AMC的2岁男孩病例，该男孩出生于沙特阿拉伯的近亲父母家庭。他出现了四肢的肌肉骨骼异常，包括身体多个关节的对称性挛缩、双侧髋关节发育不良和垂直距骨。畸形特征包括低位耳、下巴后缩、三角脸以及面部的葡萄酒色斑。该患儿还患有乳糖不耐受、胃炎、腹股沟疝和右侧隐睾。经过多学科团队讨论后制定了手术干预计划。本病例报告强调了四肢受累的AMC的良好预后，以及全面体格检查和多学科方法在AMC诊断和管理中的重要性。
