Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.J Matern Fetal Neonatal Med. 2007 Jun; 20(6):487-90.JM
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.