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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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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. |
format | Online Article Text |
id | pubmed-10524061 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
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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