Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia |
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Authors: | Elena Gullino Mario Abrate Ezio Zerbino Giuseppe Bricchi Pier Dino Rattazzi |
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Institution: | 1. Department of Genetics, Hospital USSL 61, Savigliano (Cuneo), Italy;2. Department of Anatomical Pathology, Hospital USSL 61, Savigliano (Cuneo), Italy;3. Department of Obstetrics and Gynecology, Hospital USSL 61, Savigliano (Cuneo), Italy |
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Abstract: | A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19-week-old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs 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 of the motor neurons of the anterior medullary horn revealed a neuropathic 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 differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case. |
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Keywords: | Early prenatal diagnosis Arthrogryposis multiplex congenital Spinal cord Heterotopia of a bony tissue |
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