Arthrogryposis multiplex congenita. Review with comment.

Area of Science:

• Pediatrics
• Genetics
• Neurology

Background:

• Arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures affecting two or more joint areas.
• It presents with a wide spectrum of associated anomalies, deformities, and syndromes.
• Isolated congenital contractures can be manifestations of AMC, depending on their onset during fetal development.

Purpose of the Study:

• To discuss the definition, clinical presentation, and associated conditions of AMC.
• To explore the diverse etiologies of AMC, focusing on fetal immobility.
• To highlight the central nervous system (CNS) aspects and perinatal complications of AMC.

Main Methods:

• Review of existing literature on arthrogryposis multiplex congenita.
• Discussion of etiological factors, including fetal movement disorders and environmental influences.
• Analysis of clinical manifestations, associated anomalies, and CNS involvement.

Main Results:

• AMC results from various pathological processes causing fetal limb immobilization during joint formation.
• Causes include disorders of the fetal motor system and inadequate fetal environment, leading to decreased fetal movement.
• Perinatal complications are frequent due to malpresentation caused by rigid joints; CNS involvement is significant.

Conclusions:

• The etiology of AMC is multifactorial, stemming from factors that impede fetal movement.
• CNS disorders can cause AMC and also arise as complications of the condition.
• Further research is needed to refine AMC classification and investigate its cerebral aspects.