Arthrogryposis multiplex congenita: a 28‐year retrospective study

Aim To identify all patients with arthrogryposis multiplex congenita presenting to a specialized pediatric orthopedic institution over a 28‐year period; classify them into three groups (general arthrogryposis not otherwise specified [NOS], amyoplasia, or distal arthrogryposis); report the frequency of various musculoskeletal features; and determine the rate of operative treatment. Method Patients with arthrogryposis under the age of 18 years who presented between 1990 and 2017 were included. Patients were placed into one of three groups based on clinical features and family history when available. Age of presentation, joint involvement, and utilization of surgical treatment were recorded. Results There were 417 patients in total (184 females, 233 males); 235 patients (56.4%) had general arthrogryposis NOS, 107 (25.7%) had amyoplasia, and 75 (18.0%) had distal arthrogryposis. Patients with amyoplasia presented at a younger age (median 4mo) than those with general arthrogryposis NOS (median 1y 3mo, p=0.005), and had a lower rate of spine involvement than patients with general arthrogryposis NOS (p=0.004) and distal arthrogryposis (p=0.023). The average number of surgeries across all patients was 1.9 (SD 2.2). Interpretation Pediatric patients with amyoplasia present to orthopedic care earlier and are less likely to have spine involvement than other forms of arthrogryposis. Multiple surgeries are common among all patients with arthrogryposis. This original article is commented by Elfassy on page 407 of this issue.