pediatrics
Arthrogryposis Multiplex Congenita
Symptoms and Signs of Arthrogryposis Multiplex Congenita
Deformities are prominent at birth. AMC is not progressive; however, the condition that causes it (eg, muscular dystrophy) may be. Affected joints are contracted in flexion or extension. In the classic manifestations of AMC, shoulders are sloped, adducted, and internally rotated, the elbows are extended, and the wrists and digits are flexed. Hips may be dislocated and are usually slightly flexed. Knees are extended; feet are often in the equinovarus position. Leg muscles are usually hypoplastic, and limbs tend to be tubular and featureless. Soft-tissue webbing sometimes occurs over ventral aspects of the flexed joints. The spine may be scoliotic. Except for slenderness of the long bones, the skeleton appears normal on x-rays. Physical disabilities may be severe. Some children may have primary central nervous system dysfunction, but intelligence is usually unimpaired. Endotracheal intubation during surgery may be difficult because children have small immobile jaws. Other abnormalities that rarely accompany arthrogryposis include microcephaly, cleft palate, cryptorchidism, and cardiac and urinary tract abnormalities; these findings raise suspicion for an underlying chromosomal defect or genetic syndrome. 