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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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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
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author Waseem, Asfia
Shah, Aresha Masood
Hussain, Abbas Ali
Kumar, Sumeet
Fatima, Kiran
author_facet Waseem, Asfia
Shah, Aresha Masood
Hussain, Abbas Ali
Kumar, Sumeet
Fatima, Kiran
author_sort Waseem, Asfia
collection PubMed
description 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.
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spelling pubmed-105240612023-09-28 A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report Waseem, Asfia Shah, Aresha Masood Hussain, Abbas Ali Kumar, Sumeet Fatima, Kiran SAGE Open Med Case Rep 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 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. SAGE Publications 2023-09-26 /pmc/articles/PMC10524061/ /pubmed/37771653 http://dx.doi.org/10.1177/2050313X231200418 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Waseem, Asfia
Shah, Aresha Masood
Hussain, Abbas Ali
Kumar, Sumeet
Fatima, Kiran
A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
title A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
title_full A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
title_fullStr A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
title_full_unstemmed A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
title_short A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
title_sort rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524061/
https://www.ncbi.nlm.nih.gov/pubmed/37771653
http://dx.doi.org/10.1177/2050313X231200418
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