Arthrogryposis Multiplex Congenita: report of two cases

Abstract

Arthrogryposis Multiple Congenita (AMC) is a rare syndrome that represents a group of congenital conditions characterized by joint contractures in two or more joints, non-progressive, usually symmetrical, of unknown etiology and which may be associated with other malformations, such as visceral and neurological. We present two isolated cases with characteristic features of AMC, seen in a high-risk pediatrics outpatient clinic in a city in western Paraná. Case 1: infant, female, 14 days old, with reduced fetal movements reported by the mother, presenting malformations involving only the limbs, seen immediately after birth.

Case 2: infant, male, four months old, diagnosed with fetal hypokinesia on 23-week obstetric ultrasound, at birth, presents limb contractures and central nervous system dysfunction. The diagnosis of arthrogryposis is complex and essentially clinical, requiring a meticulous anamnesis, including an assessment of pregnancy, delivery, family history and a thorough physical examination, classifying what types of contractures, involved limbs, presence of altered musculature and neurological changes to differentiate AMC from other syndromes that also have joint contractures. The aftercare and treatment of infants with arthrogryposis must occur in multidisciplinary follow-up due to the varied manifestations that the disease may present and the characteristic of recurrence over the years.