An Acrofacial Dysostosis Case of Rodriguez Type

Abstract

Acrofacial dysostosis (AFD) is an extremely rare syndrome, characterized by severe mandibulofacial dysostosis and various limb anomalies. Based on the variation in limb deformities, two major types are recognized: (1) Nager?type AFD, presenting predominantly pre?axial anomalies; and (2) Miller?type AFD, presenting predominantly postaxial limb anomalies. Here, we report the case of a newborn female with AFD syndrome combined with Nager and Miller type, as delineated by Rodriguez et al. The infant presented with severe mandibulofacial dysostosis, pre? and postaxial deformities of the upper limbs, phocomelia of the left lower limb, and other anomalies.ArticleAcrofacial Dysostoses（AFD）は非常にまれな症候群で，様々なタイプの上肢の低形成を伴う下顎・顔面異骨症である。上肢の低形成により２つのタイプに分類されており，軸前の低形成を示すNager type AFDと軸後の低形成を示すMiller type AFDである。われわれはNager typeとMiller typeの複合タイプであるRodriguez AFDの女児を経験したので報告する。富山大学医学会誌, 21(1), 2010.10, pp.37-3