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, G; 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]