A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report

Autor: Asfia Waseem, Aresha Masood Shah, Abbas Ali Hussain, Sumeet Kumar, Kiran Fatima
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: SAGE Open Medical Case Reports, Vol 11 (2023)
Druh dokumentu: article
ISSN: 2050-313X
2050313X
DOI: 10.1177/2050313X231200418
Popis: 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.
Databáze: Directory of Open Access Journals