Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia

摘要

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 Genee–Wiedemann type. The Nager type and Genee–Wiedemann 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 Genee–Wiedemann 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]. Rodriguez type acrofacial dysostosis syndrome is an extremely rare form of AFD, characterized by Nager- like facial dysmorphisms. Whether Nager type and Rodriguez type are distinct entities or represent variants of the same condition is obscure [4]. The inheritance of Rodriguez type of AFD is autosomal recessive unlike other AFD syndromes [5]. The Rodriguez type of AFD is associated with mandibulofacial dysostosis, preaxial and postaxial upper and lower limb anomalies, shoulder/pelvis girdle hypoplasia, as well as cardiac and central nervous system (CNS) malformations [6]. As far as we know, 10 cases of this type of AFD syndrome have been previously reported up to now. In this case report, we describe an additional case of Rodriguez type lethal AFD with ambiguous genitalia and severe upper and lower limb deformities.