Great Stories of Smiles from Around the World
Sunday, March 22, 2009
Via Popular Science
Genetic disorders may have caused ruler’s unusual physique
The Egyptian pharaoh Akhenaton’s voluptuous body shape and elongated head and neck, recorded in ancient depictions of the male ruler, have long perplexed historians. But now Irwin Braverman, a professor of dermatology and an expert on visual diagnosis at the Yale University School of Medicine, is offering a theory on the characteristics, which are not found in representations of other pharaohs: Akhenaton may have suffered from two genetic disorders that affect body shape.posted by Pediatric Plastic Surgery
Akhenaton, who ruled from 1353 to 1336 B.C., is shown in paintings and statues as having prominent breasts and buttocks—indications, Braverman says, of a hormone disorder. An overproduction of the enzyme aromatase, which is instrumental in the body’s production of the hormone estrogen, is the likely culprit. In males, the disorder results in the development of feminine traits by puberty. Depictions that show Akhenaton’s prepubescent daughters with breasts support the genetic hormone-disorder theory.
Another genetic disease, craniosynostosis, which can result in the joints in the skull fusing too early, could have caused the pharaoh’s elongated head and neck. Egyptologists sometimes refer to the shape, which was common among 18th-dynasty royalty, as “royal head.” Illustrations of Akhenaton’s daughters also show the elongated head, as do mummies of his progeny. One such descendant: child-king Tutankhamen, who some believe may have been Akhenaton’s son. Akhenaton’s mummy has yet to be found, but Braverman hopes that DNA analysis of mummies of the pharaoh’s descendants may one day confirm his theory.
Thursday, March 19, 2009
DALY CITY, CA (KGO) -- A baby born with a rare hereditary condition is healthy and home with his parents in Daly City.posted by Pediatric Plastic Surgery
Kamani Hubbard was born two weeks ago at St. Luke's Hospital, with an extra finger on each of his hands and an extra toe on each foot, a condition known as polydactyly.
In Kamani's case, all of the digits are perfectly formed and function normally.
There is a history of polydactyly on Kamani's father side of the family, but no relative can remember it happening on both hands and feet.
Sunday, March 8, 2009
A type of prenatal test that helps families learn of any serious genetic diseases in a fetus appears to increase the risk of certain birth defects, according to a study published today in the Journal of Craniofacial Surgery.posted by Pediatric Plastic Surgery
The test, called chorionic villus sampling, or CVS, is commonly performed in the first trimester of pregnancy. During CVS, a small sample of the placenta is removed to test for genetic diseases. CVS is generally considered safe. The study today, however, analyzes the entire body of research on CVS and suggests that the procedure may increase the rate of blood vessel malformations called hemangiomas. Hemangiomas are common blood vessel malformations that are caused by an abnormal growth of cells linking the blood vessels. They can appear as small birthmarks that sometimes disappear later in life or large malformations that need to be removed.
Via Los Angeles Times
Wednesday, March 4, 2009
U.S. researchers identified an increased prevalence in left-handedness in children with a congenital disorder known as hemifacial microsomia.posted by Pediatric Plastic Surgery
The findings are published in the Journal of Craniofacial Surgery.