Radiographic Identification of Arthrogryposis Multiplex Congenita in Utero

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Abstract
Arthrogryposis multiplex congenita (multiple congenital rigid joints; amyoplasia congenita; myodystrophia fetalis deformans) is a condition characterized by varying degrees of joint contractures attributed to the effects of a dystrophic muscular disorder of unknown origin. Disturbances in the spinal cord, notably deficiency of anterior horn cells in the lumbosacral segments, indicate a possible central nervous system component. The interference with joint mobility is due to increased periarticular fibrous tissue. The skin and subcutaneous tissues are sometimes affected, but bone seems to escape except in so far as it is influenced by the muscular, cutaneous, and presumed central nervous system changes. Associated congenital malformations of the skull and spine, polydactyly, and hip dislocation are frequent concomitants. A hereditary factor may exist. The newborn infant with this condition characteristically presents relatively slender extremities with prominent joints fixed in flexion, extension, or both. Muscle weakness with hypotonia is attributed to loss of striated fibers and replacement by endomysial connective tissue. This is seen more often in the extensor groups (1,2). It appears that the abnormal fixation and attitude of the extremities might provide a diagnostic clue on pelvimetric or abdominal roentgenograms. Case Reports Case I. Baby B. was delivered by cesarean section from a mother in whom a polyhydramnios had been present for about two months. Abdominal roentgenograms a week before delivery revealed a single fetus in vertex presentation, with the head hyperextended. The vertebral column appeared intact, but it was noted that the legs were hyperextended on the thighs and that the thighs were flexed on the abdomen. The significance of this observation was not recognized prior to delivery. The maternal pelvic inlet was quite small, and cephalopelvic disproportion was diagnosed both clinically and radiologically. After delivery, it was apparent that the infant had arthrogryposis multiplex congenita and a spina bifida occulta with lumbosacral myelomeningocele. Radiographic examination revealed widening of the lumbosacral neural canal, with normal vertebral bodies. A flat soft-tissue mass about 4 cm. in diameter corresponded with the myelomeningocele. The acetabular rims were elevated, and both hips were dislocated upward and laterally. The legs were fixed in the position noted on the prepartum roentgenograms, but the bones of the lower extremities were not otherwise remarkable; the muscular components appeared reduced in size and were streaked with radiolucent areas believed to represent fatty infiltration. The patient was sent elsewhere for surgical treatment of the myelomeningocele. Case II. Baby S. was the first child of a 29-year-old woman in whom polyhydramnios was recognized about two months before delivery.

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