Arthrogryposis multiplex congenita

Abstract

Arthrogryposis Multiplex Congenita (AMC) is a congenital, nonprogressive syndrome marked by fixed joint positions and movement limitations. The term, meaning "bent joint" in Greek, reflects a broad range of over 300 disorders with a prevalence of 1 in 3,000 to 5,000 live births, often due to sporadic mutations or environmental factors. This case report describes a 35-week preterm female with significant congenital anomalies, including limb contractures and facial dysmorphism. Diagnostic workup revealed a TPM2 gene mutation and an atrial septal defect. Management involved a multidisciplinary team focusing on rehabilitation through joint stimulation and serial casting. Despite improvements in some areas, persistent ankle deformities indicated the need for surgical correction. Early, interdisciplinary intervention is crucial for optimizing outcomes in AMC, with ongoing communication with parents about treatment and prognosis being essential.