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Saving Face: New Hope in Reshaping Features

An innovative treatment for a rare genetic disorder splits and lengthens the skull, allowing bone to grow into the gap and reshaping the face. The future looks bright, girl's mother says.

May 11, 2000|THOMAS H. MAUGH II | TIMES MEDICAL WRITER

When 2-year-old Danielle Kulowitch went to the mall, adults would point and stare at her face and young children would make fun of her and ask rude questions.

Danielle's face was misshapen by a rare genetic disorder called Apert's syndrome, in which the growth plates in the skull are fused together at birth so that the skull cannot expand to accommodate the growing brain. Left untreated, it prevents growth of the brain, leading to severe mental impairment.

Early surgeries allowed Danielle's skull to expand and her brain to grow normally. But they left her with the characteristic facial features of Apert's: protruding eyeballs, a flat face and recessed cheeks.

Last year, Danielle underwent a relatively new surgical procedure using a special apparatus developed by Dr. Steven R. Cohen of San Diego Children's Hospital and Medical Center and a clinic called San Diego Faces. Cohen literally separated the front of her skull from the back, then reattached the two parts with special metal plates hidden under the skin.

Over a period of weeks, the space between the two skull sections was slowly enlarged by separating the metal plates with an expansion screw, allowing new bone to grow in the gap between them and resculpting her face.

Today at age 4, Danielle's skull is nearly normal in shape, and she will soon start kindergarten. And the children have stopped laughing. "The future really looks bright for her," said her mother, Denise.

The new technique, called distraction osteogenesis, is reshaping the lives of children born with Apert's, cleft lip and palate and other related birth defects, Cohen said. It is literally saving the lives of others born with malformed chins that impede or prevent breathing.

About 1 in every 2,000 infants is born with a cleft lip or palate severe enough to require this kind of surgery. Apert's syndrome is considerably more rare, affecting 1 in every 160,000 infants.

"This has revolutionized the treatment of congenital and traumatic deformities," said Dr. John Polley of Rush-Presbyterian-St. Luke's Medical Center in Chicago. At a 1990 plastic surgery meeting, he noted, "there was not a single talk or discussion about the distraction technique. Now, about two-thirds of the [same] meeting is focused on distraction."

The surgical procedure was invented by Russian surgeons as a way to treat abnormally short children. The long bone of the leg would be severed in the middle and pins attached on each side, extending through the skin. An external framework would allow the space between the pins to be slowly increased so that new bone would grow in the opening.

In this way, it was possible to lengthen the bone by three or four inches, making the child taller.

In 1992, Dr. Joseph McCarthy of the New York University School of Medicine adapted this procedure to treat children with abnormally recessed chins. Such resculpting had previously been done by using bones from the hip or from cadavers to change the shape of the skull. But the lengthy operation did not allow the soft tissues of the head adequate time to adapt to the alteration in shape. The procedure was also painful, prone to infection and subject to relapse.

McCarthy used an external cage to accomplish the same goal, and he and others subsequently extended it to other parts of the skull. The procedure was less painful for the children and long-term results were better, but bleeding and infections remained a problem. And children didn't like the "Frankenstein" effect produced by the cage, Cohen said.

Enter Cohen, a cardiac surgeon who switched to facial reconstruction after watching a 1984 television documentary about Paul Tessier, a pioneer in reconstruction with conventional surgery. "The changes in these kids' lives was so dramatic, it seemed like the exciting place to be," he said.

Frustrated by the external cages, he visited dental technician Robert White, who began tinkering with new devices in his garage, based on Cohen's specifications. Eventually, they developed an expansion device that was hidden entirely beneath the skin. The only external part was a cable, hidden behind the hairline, used to turn the expansion screw.

Cohen first successfully used the new device in 1993 at the Scottish Rite Children's Medical Center in Atlanta. "It was a real home run," he said.

The device has since been used in more than 300 patients in the United States, 60 to 70 of them children, Cohen said.

But the under-skin device required a second major surgery to remove it by detaching the metal plates from the bone. That removal "is not insubstantial," Cohen said, and can involve significant blood loss.

To ease the problem, Cohen began tinkering again and developed plastic sleeves that attach to the bone and hold the expansion plates in place. The plastic is a form of polylactic acid that is biodegradable. It can be left in place to deteriorate after the expansion plate is removed in a 10-minute operation.

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