The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.
Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review / VERROTTI DI PIANELLA, Carla; Benassi, Gianluca; Piantelli, Giovanni; Magnani, C; Giordano, Giovanna; Gramellini, Dandolo. - In: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE. - ISSN 1476-7058. - 20:6(2007), pp. 487-490. [10.1080/14767050701398447]
Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review
VERROTTI DI PIANELLA, Carla;BENASSI, Gianluca;PIANTELLI, Giovanni;MAGNANI C;GIORDANO, Giovanna;GRAMELLINI, Dandolo
2007-01-01
Abstract
The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.| File | Dimensione | Formato | |
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