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Akhenaten and the Strange Physiques of Egypt's 18th Dynasty
- Irwin M. Braverman, MD;
- Donald B. Redford, PhD; and
- Philip A. Mackowiak, MD, MBA
- From Yale University School of Medicine, New Haven, Connecticut; The Pennsylvania State University, State College, Pennsylvania; the Akhenaten Temple Project, Amarna, Egypt, and the Veterans Affairs Maryland Health Care System and University of Maryland School of Medicine, Baltimore, Maryland.
Abstract
Akhenaten was one of Egypt's most controversial pharaohs, in part because of his strange appearance in images produced after he had declared Aten, the Sun-disc, his one-and-only god. Whether these were symbolic representations or realistic ones that indicate a deforming genetic disorder is the subject of continuing debate. The authors present evidence that the bizarre physical features portrayed in these images are not only realistic but were shared by many members of Egypt's 18th Dynasty. The features are best explained by either 2 different familial disorders—the aromatase excess syndrome and the sagittal craniosynostosis syndrome—or a variant of the Antley–Bixler syndrome caused by a novel mutation in one of the genes controlling the P450 enzymes, which regulate steroidogenesis and cranial bone formation.
Article and Author Information
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Note: This discussion was presented originally in an open forum sponsored by the Veterans Affairs Maryland Health Care System and the University of Maryland School of Medicine as part of an ongoing series of historical clinicopathologic conferences.
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Acknowledgment: The authors thank Mr. Larry Pitrof and Mr. Wayne Millan for assistance in organizing the conference on which this article is based and Professor Bette Sue Masters, Department of Biochemistry, University of Texas Health Science Center at San Antonio, Texas, for alerting us to the Antley–Bixler syndrome.
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Potential Financial Conflicts of Interest: None disclosed.
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Requests for Single Reprints: Philip A. Mackowiak, MD, MBA, Medical Service-111, Veterans Affairs Medical Center, 10 North Greene Street, Baltimore, MD 21201; e-mail, Philip.Mackowiak{at}va.gov.
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Current Author Addresses: Dr. Braverman: Yale University School of Medicine, Department of Dermatology, 333 Cedar Street, Box 208059, New Haven, CT 06520-8059.
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Dr. Redford: 1292 Chestnut Ridge Drive, State College, PA 16803.
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Dr. Mackowiak: Medical Service-111, Veterans Affairs Medical Center, 10 North Greene Street, Baltimore, MD 21201.
