Saving Face: New Hope in Reshaping Features

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.

That version has been used in about seven children nationwide, he said, and has provided an additional benefit beyond convenience. There have been no infections associated with its removal, compared with a 20% infection rate for removal of the all-metal device.

Now Cohen and his partner, Dr. Ralph Holmes, are developing a device that is entirely biodegradable so that nothing will have to be removed. He hopes to implant the first one within a year.

Despite those refinements to the implanted devices, many surgeons prefer the old-fashioned external cage for many types of facial reconstruction, Polley noted. One big advantage, he said, is that it gives the doctor more control over the process. The gap between bones can be expanded in more than one direction to control the resculpting, whereas Cohen’s device is limited to one dimension.

“The goal is long-term rehabilitation for the patients,” Polley said. “Whether they have an external [cage] for a month or so is insignificant when you look at their life span.”

But both approaches are useful, he added. “The more severe the deformity, the greater the application they may have,” Polley noted.

Danielle, meanwhile, faces still more surgery because of other problems associated with Apert’s. She has had five surgeries on her hands because her fingers were webbed together and several more because her toes were webbed and she had clubfoot. Because of breathing problems, her adenoids and tonsils were removed and her nasal passages were enlarged to ease breathing.

She has had a total of 19 surgeries, and Denise Kulowitch expects her to have at least 25 by the time she is an adult. Fortunately, Danielle’s father, David, is in the U.S. Navy and the government has paid most of the surgical expenses. (Most insurance companies also cover the procedure.)

“Having her has really changed my life,” said Denise, who became something of an activist to get the government to pay for the treatment and is now seeking a degree in rehabilitation counseling. But she is also preparing to hand off the baton to Danielle. Because of the success of the surgeries, “she can be her own advocate one day.”

Thomas H. Maugh II can be reached at thomas.maugh@latimes.com.

Danielle Kulowitch, above, is shown in 1997 before facial surgeries. Right, after the procedures, she gets a kiss from her mother, Denise Kulowitch, who is seeking her degree in rehabilitation counseling.