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

Author:

Waseem Asfia1,Shah Aresha Masood2,Hussain Abbas Ali2,Kumar Sumeet3ORCID,Fatima Kiran4

Affiliation:

1. Department of Internal Medicine, Civil Hospital Karachi, Karachi, SD, Pakistan

2. Department of Internal Medicine, Jinnah Post Graduate Medical Centre, Karachi, SD, Pakistan

3. Dow Medical University, Karachi, SD, Pakistan

4. Jinnah Sindh Medical University, Karachi, SD, Pakistan

Abstract

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.

Publisher

SAGE Publications

Subject

General Medicine

Reference16 articles.

1. Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach

2. (NCATS) NCfATS. Arthrogryposis multiplex congenita (AMC) Genetic and Rare Diseases Information Center (GARD), https://rarediseases.info.nih.gov/diseases/777/arthrogryposis-multiplex-congenita (accessed 28 April 2023).

3. Disorders NOfR. Arthrogryposis multiplex congenita, https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/ (accessed 28 April 2023).

4. A Proposal for a New Method of Evaluation of the Newborn Infant

5. Amyoplasia and distal arthrogryposis

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