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M.D.s discover, treat mysterious family defect

Article-M.D.s discover, treat mysterious family defect

Cincinnati — An international team of doctors has begun treating an extended family in Venezuela that includes 17 cases of a rare, previously undocumented facial deformity. At the same time, they say they hope genetic testing reveals clues for treating the syndrome in the future.

Exceptionally rare syndrome

"The syndrome is unusual in that some of the patients have the bones of their eyes too far apart; some of them only have soft tissue problems; and virtually all of them seem to have fatty tumors in the middle of the face which push the eyelids and sometimes the eyeballs too far apart," says Christopher B. Gordon, M.D., assistant professor of plastic surgery at the University of Cincinnati and chair of surgery at Cincinnati Children's Hospital.

In early July, he traveled to Venezuela to operate on six patients. His colleague, Leopoldo Landa, M.D., a plastic surgeon who practices in that country and initially discovered the cluster of patients, also has treated a similar number.

Additional symptoms of the syndrome, tentatively named Valencia del Rey for the town where it was discovered, include vertical notched clefts of the upper eyelids that one could call colobomas, Dr. Gordon reports, and, in one girl's case, a missing eye.

"In addition," he tells Cosmetic Surgery Times, "patients have an unusual disruption of the tear duct system and glands. Some of them have some clefts or holes in the orbital and midface bones as well. There are some rare craniofacial clefts that occur through this area that are typically called Tessier clefts, but these don't seem to line up with any of the patterns" that distinguish these clefts.

Treating symptoms

At press time, only the most severe cases remained to be treated. Dr. Gordon says some will require a facial bi-partition or monobloc procedure pioneered by Fernando Ortiz-Monasterio, M.D. (Tutino M. et al. Ann Plast Surg. 2000 Jan;44(1):1-7.), whom Drs. Gordon and Landa planned to invite to perform some of the procedures, tentatively scheduled for December 2005.

Informally polling peers has uncovered only about three other suspected cases of the syndrome worldwide, Dr. Gordon reports.

"It's such a strange, rare syndrome that nobody has categorized it before," he says.

Searching for cause

To learn more about the syndrome, in October he and Dr. Landa began genetic testing of patients' blood samples, as well as of samples from non-affected family members.

"If one knows there's a high likelihood of a mutation that runs through this whole family and one can get blood from both the affected and non-affected people, then the more people one gets into the experiment, the higher the likelihood of finding the gene," Dr. Gordon explains.

By using a micro-array or gene chip that arranges the entire human genome into three slides, he says one can arrive at a short list of mutated gene candidates in a matter of a month or two.

"It's an enormous amount of data that gets crunched, including 30,000 data points for each of 40 people we're chipping. The result is millions and millions of data points, and then we must sift through all that to find out what's different" in the affected patients, Dr. Gordon says.

However, he says, "The technology is so powerful that with these kinds of numbers we can virtually guarantee we're going to have a candidate gene pretty soon."

At that point, the team will employ what he calls brute-force methods, removing one DNA base at a time using a chemical reaction and sequencing that DNA essentially one letter at a time until they find the mutation. This process is time-consuming and costly, Dr. Gordon says. However, funding from Cincinnati Children's Hospital and services donated by departments including plastic surgery, genetics and molecular biology support the project.

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