Arthrogryposis Multiplex Congenita

A 3120-g male infant was born to a 31-year-old gravida II para I mother at 37 weeks' gestation following an uncomplicated pregnancy. There was no history of oligohydramnios, but diminished fetal movements were noted. The infant was born vaginally with complete breech presentation and Apgar scores of 7 and 8 at 1 and 5 minutes, respectively.

The child was noted to have the following abnormalities in the neonatal period: micrognathia, low-set left ear, hypotonia of the upper extremities, and sever contractures of the limbs. The latter included flexion contractures and dislocation of the hips and hyperextension contractures of the knees (seen in photo), flexion contractures of the elbows and right wrist, clenched fist with overlapping fingers, and club feet.

The presence of multiple congenital contractures is known as arthrogryposis multiplex congenita. This is a symptom complex characterized by congenital rigidity of the joints and is not a specific diagnostic entity. It is associated with diminished movement in utero and can have numerous causes, inclluding CNS, anterior horn cell, skeletal, and connective-tissue disorders; peripheral neuropathies; congenital myopathies; neonatal myasthenia; skin diseases; or any form of uterine constraint. The mode of inheritance and the prognosis vary with the cause.