Related Experiment Video
Updated: Jun 16, 2026
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis:
Zoran S Gucev1, Nada Pop-Jordanova, Gordana Dumalovska
1Medical Faculty Skopje, 50 Divizija BB, 1000 Skopje, Former Yugoslav Republic of Macedonia.
Insights
Arthrogryposis multiplex congenital (AMC) is a condition with multiple joint contractures at birth. Comprehensive evaluation and genetic consultation are essential for diagnosis due to its diverse presentations.
Area of Science:
- Medical Genetics
- Orthopedics
- Pediatrics
Background:
- Arthrogryposis multiplex congenital (AMC) presents with multiple joint contractures at birth.
- Muscle tissue may be replaced by fat or fibrous tissue, often with talipes equinovarus and scoliosis.
- AMC encompasses a wide spectrum of clinical and genetic heterogeneity.
Purpose of the Study:
- To present a case of a male infant with AMC.
- To highlight the diagnostic challenges and necessary evaluations for AMC.
Main Methods:
- Clinical case presentation of a 2-year-old male.
- Detailed physical examination findings including joint contractures and deformities.
- Karyotype analysis performed.
Main Results:
- The patient presented with shoulder, elbow, and wrist contractures, severe bilateral equinovarus foot deformities, and syndactyly.
- Facial features included a capillary hemangioma and small jaw; mental development was normal.
- Karyotype confirmed a 46, XY status.
Conclusions:
- AMC is a complex condition with numerous associated syndromes.
- Differentiating AMC from distal arthrogryposis forms requires careful assessment.
- Integrated musculoskeletal and genetic evaluations are crucial for effective management.
Introduction:
Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported.
Case Presentation:
This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrelated, young and healthy. No malformations or mental retardation have been reported in the family. Since his birth a specific posture was noted: internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. In addition, the child has a severe equinovarus deformity of the feet. Syndactily between II and III finger was also noted. His face is round with a frontal midline capillary hemangioma, while his jaw appears to be small. Mental development is normal. The karyotype is: 46, XY.
Conclusions:
About 150 syndromes have arthrogryphosis as a presenting sign. AMC is a distinct entity and distinction with the distal forms of arthrogryphosis can be difficult, since there is a considerable clinical and genetic heterogeneity. A comprehensive musculoskeletal evaluation and genetic consultation is necessary.
