Did Akhenaten Have the Antley–Bixler Syndrome?

Abstract

Letters15 December 2009Did Akhenaten Have the Antley–Bixler Syndrome?Walter L. Miller, MDWalter L. Miller, MDFrom University of California, San Francisco, San Francisco, CA 94143.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-151-12-200912150-00012 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Braverman and colleagues (1) hypothesize that Akhenaten (Amenophis IV) had gynecomastia and brachycephaly attributable to the form of the Antley–Bixler syndrome (ABS) caused by mutations in P450 oxidoreductase (POR). Having reviewed the clinical findings and identified the genetic defects in most reported cases of POR deficiency (2–4), I find this unlikely. First described in 1975, ABS is a rare skeletal dysplasia syndrome characterized by craniosynostosis, radioulnar or radiohumeral synostosis, brachycephaly, femoral bowing, femoral fractures, midface hypoplasia, proptosis, a “pear-shaped” nose, choanal atresia, and other bony findings (5, 6). The ABS phenotype can result from either of 2 ...