Arthrogryposis multiplex congenita: a 28-year retrospective study

Area of Science:

• Pediatric Orthopedics
• Medical Genetics
• Developmental Biology

Background:

• Arthrogryposis multiplex congenita (AMC) is a diverse group of congenital contracture syndromes.
• Understanding the distinct clinical presentations and treatment patterns of AMC subtypes is crucial for effective pediatric orthopedic care.

Purpose of the Study:

• To classify patients with AMC presenting to a specialized pediatric orthopedic institution.
• To determine the frequency of musculoskeletal features and operative treatment rates across AMC subtypes.
• To compare the age of presentation and specific clinical involvements among general AMC, amyoplasia, and distal arthrogryposis.

Main Methods:

• A retrospective review of 417 pediatric patients with AMC (1990-2017).
• Classification into general AMC not otherwise specified (NOS), amyoplasia, or distal arthrogryposis based on clinical data and family history.
• Recording of age at presentation, joint involvement, and surgical treatment utilization.

Main Results:

• Amyoplasia patients presented younger (median 4 months) than general AMC NOS (median 1 year 3 months).
• Amyoplasia was associated with significantly lower rates of spine involvement compared to general AMC NOS and distal arthrogryposis.
• The average number of surgeries per patient was 1.9, indicating frequent operative interventions across all AMC types.

Conclusions:

• Pediatric patients diagnosed with amyoplasia exhibit earlier presentation to orthopedic services and reduced spinal involvement.
• The high rate of surgical treatment underscores the significant orthopedic burden associated with arthrogryposis multiplex congenita.