Did Akhenaten Have the Antley–Bixler Syndrome?
Authors: Walter L. Miller
Journal: Annals of Internal Medicine (2009)

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 ...References1. Braverman IM, Redford DB, Mackowiak PA. Akhenaten and the strange physiques of Egypt's 18th dynasty. Ann Intern Med. 2009;150:556-60. [PMID: 19380856] LinkGoogle Scholar2. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004;36:228-30. [PMID: 14758361] CrossrefMedlineGoogle Scholar3. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, et al. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005;76:729-49. [PMID: 15793702] CrossrefMedlineGoogle Scholar4. Scott RR, Miller WL. Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res. 2008;69:266-75. [PMID: 18259105] CrossrefMedlineGoogle Scholar5. Antley R, Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser. 1975;11:397-401. [PMID: 1227559] MedlineGoogle Scholar6. Crisponi G, Porcu C, Piu ME. Antley-Bixler syndrome: case report and review of the literature. Clin Dysmorphol. 1997;6:61-8. [PMID: 9018420] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From University of California, San Francisco, San Francisco, CA 94143.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoAkhenaten and the Strange Physiques of Egypt's 18th Dynasty Irwin M. Braverman , Donald B. Redford , and Philip A. Mackowiak Did Akhenaten Have the Antley–Bixler Syndrome? Irwin M. Braverman and Philip A. Mackowiak Metrics Cited ByPurported medical diagnoses of Pharaoh Tutankhamun, c. 1325 BC-Familial epilepsy in the pharaohs of ancient Egypt's eighteenth dynasty 15 December 2009Volume 151, Issue 12Page: 892KeywordsAutosomal dominant diseasesAutosomal recessive diseasesGenetic diseasesGenital anatomyInfertilityMutationPhenotypesSkeleton ePublished: 15 December 2009 Issue Published: 15 December 2009 CopyrightCopyright © 2009 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...