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Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia
Author(s) -
Gullino Elena,
Abrate Mario,
Zerbino Ezio,
Bricchi Giuseppe,
Rattazzi Pier Dino
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130514
Subject(s) - arthrogryposis , arthrogryposis multiplex congenita , medicine , prenatal diagnosis , differential diagnosis , spinal cord , fetus , fetal movement , anatomy , lumbar , pathology , pregnancy , genetics , psychiatry , biology
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.