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

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 musculos...

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Detalles Bibliográficos
Autores principales: Waseem, Asfia, Shah, Aresha Masood, Hussain, Abbas Ali, Kumar, Sumeet, Fatima, Kiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524061/
https://www.ncbi.nlm.nih.gov/pubmed/37771653
http://dx.doi.org/10.1177/2050313X231200418
Descripción
Sumario: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.