A Rare Case of Amyoplasia Type of Arthrogryposis Multiplex Congenita with Midfacial Hemangioma in a Neonate

Abstract

Arthrogryposis multiplex congenita is a condition where multiple contractures of the joint develop, leading to deformity and restriction of movement. It is mostly seen in the neonatal period but the deformity may persist till adulthood also. A 1-day-old male baby presented with multiple deformities and contractures of all four limbs, with breathing difficulties. On examination, there was abnormal shoulder adduction with elbow extension and ulnar deviation of the wrist with thumb and finger deformity. In the lower limb, severe knee flexion with severe bilateral talipes equinus deformity was seen. A midfacial hemangioma and ear abnormalities were also present along with a skin dimple over both knees. The child was investigated fully for other congenital and systemic malformations. Finally, a diagnosis of the amyotrophic type of arthrogryposis congenita with facial hemangioma was made, which is a very rare association. The patient was managed by a multidisciplinary team approach and was discharged successfully. When a baby is presented with such a deformity, then the child should be screened fully and a genetic study should be done to prevent a recurrence of malformation in a subsequent pregnancy. The aim is to prevent early contractures and to restore limb function in the child and proper follow-up.