Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia
Künye
Ural, U.M., Ceylaner, S. (2016). Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. Taiwanese Journal of Obstetrics & Gynecology, 55(4), 613-615. https://doi.org/10.1016/j.tjog.2016.06.011Özet
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].