Preis S, Raymaekers-Buntinx I, Majewski F
Department of Pediatrics, University of Düsseldorf, Germany.
Am J Med Genet. 1995 Mar 27;56(2):155-60. doi: 10.1002/ajmg.1320560208.
We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification.
我们描述了一名死产女婴,患有未分类形式的下颌面骨发育不全、右侧轴后性缺陷和左手轴前性缺陷。纳格尔综合征的特征是轴前肢体缺陷,而热内-维德曼综合征(=米勒综合征)的特征是轴后肢体缺陷。我们简要回顾了已确定的肢端面部发育不全(AFD),并讨论了我们病例在当前分类中的位置。