EARLY PRENATAL SONOGRAPHIC DIAGNOSIS OF NEUROPATHIC ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH OSSEOUS HETEROTOPIA

A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has b een carried out on a 19-week-old fetus by means of echography. The ult rasonographic characteristics were unnatural position of the four limb s associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder o f the motor neurons of the anterior medullary horn revealed a neuropat hic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo-pathological, genetic, and different ial diagnosis are discussed showing the precocity of the prenatal diag nosis and the peculiarity of the aetiology of our case.