Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia

Abstract

Dear Editor, The acrofacial dysostosis syndromes (AFDs) involve a group of disorders characterized by mandibulofacial dysostosis and limb anomalies [1,2]. They are classified into two major groups according to the type of limb defects; Nager type and GeneeeWiedemann type. The Nager type and GeneeeWiedemann type resemble each other in terms of facial findings. However, Nager AFD is characterized with preaxial limb anomalies, while postaxial limb anomalies are typical for GeneeeWiedemann AFD. Pattern of inheritance is mostly autosomal dominant for most AFDs and the majority of cases are likely to ensource from a new mutation [3].