Doctors Rebuild Skull of Indiana Baby with Crouzon's Syndrome, Rare Genetic Deformity

May 21, 2010— -- Doctors at Peyton Manning Children's Hospital in Indianapolis reconstructed a skull of 5-month-old Kaydence Theriault, a girl who was born with a rare genetic disorder called Crouzon's syndrome.

Surgeons spent seven hours in surgery, and said they hope it will radically change how the world views the little girl.

Kaydence Theriault was one of triplets -- all diagnosed with Crouzon's. Only 1 in 16 million children have the disorder, which starts in the womb when the bones of the skull fuse too early in the development of a fetus.

The disorder can cause bulges in the head as the developing brain tries to find room to grow. Kaydence had an especially severe form.

"It's called a cloverleaf cranial deformity, and it's not typical for Crouzon," said Dr. Ronald Young II, the neurosurgeon in charge of Kaydence's care at Manning Hospital.

"When you look at the head from the front it has three bulges, like the three leaves of the clover," he said.

Doctors had to cut Kaydence's malformed skull into smaller pieces, then rearrange them to model a more natural head shape. Young said doctors rebuilt the whole skull except for the lower part of her forehead and around her eyes.

By the time she was old enough for surgery her growing brain had eroded holes in her skull. She needed a shunt to reduce the buildup of fluid on the brain.

"It all depends on how small the skull is and how much its restricting the brain," said Dr. Michael Cunningham, director of the Craniofacial Center at Seattle's Children's Hospital. "It [the brain] is trying to grow in a small blocked area, so it's trying to bulge out of the skull, and there are some areas above your ears which are never closed -- so they kind of bloom out of their ears."

In severe cases, Cunningham said "the brain is pushing very hard on the inside of the skull, and it can't tolerate that."

Bobbi-Jo Theriault, the triplets' mother, had Crouzon's herself, and said she thought she knew what to expect if any of her children inherited her rare medical condition. She remembered being teased as a child because she had protruding eyes and slightly-altered facial features.

Advances in Surgery Can Improve Appearance of Crouzon Syndrome

Pre-natal testing showed Theriault had passed on the condition after she became pregnant with the triplets.

"I knew that one of them had it. They diagnosed her in the womb, but we didn't know it would be to this extent," said Theriault. "They call it the cloverleaf shape, I've never even heard of that as far as Crouzon syndrome."

It turned out that all three of the triplets had the condition, but since they are not genetically identical, they do not have it to the same extent. Kaydence's brother and sister, Kaylin and Taylor, will only need one operation each.

Kaydence will have more surgeries, and more checkups as she grows. But so far Bobbi-Jo Theriault says her quiet, happy girl is doing well.

"The doctors are very impressed with her outcome," said Theriault. "She's doing pretty well. She's a tough little girl."

Doctors say a generation ago, children with Crouzon's syndrome had few options.

"In the past there was no real cure for it," said Dr. Henry Kawamoto of the American Society of Plastic Surgeons. "Then, in 1940, a British plastic surgeon, Harold Gillies, did an operation on one of their scrub nurses in England, in which you brought the whole face forward."

Gilles didn't publish his findings until 1950, and Kawamoto said surgeons still didn't have a refined approach to treat the deformities.

By 1967, a French doctor named Paul Tessier announced his new methods for changing the face of Crouzon's patients. Kawamoto said he had studied skulls in a Paris museum to find out where to release the natural sutures between sections of the braincase.

"It was really radical that he was able to make these people look so normal," said Kawamoto, who is also a clinical professor at the University of California's Craniofacial Anomalies Center.

Bobbi-Jo Theriault, who works in medical billing, and her husband Jason, a printer, had been told there was a 50-50 chance each of their children would inherit Crouzon's. Their 7-year-old son Jayden also has the syndrome, but in a far less severe form.

The Theriaults say they are struggling to make ends meet with the triplets. But Bobbi-Jo says she thinks they will have a normal life.

"Just like me, I'm leading a normal life," she said.

"I just wanted to make people aware of this type of syndrome because it's very rare and not very many people have it," said Theriault. "They look at us and they think that something is wrong mentally because of our appearance."

Cunningham said if the syndrome goes untreated, then there could be brain damage, but if surgery or other treatment is done early, people with Crouzon's are just as capable as anyone else.

"I've got patients with Cruzan's who are in medical school right now," he said.

The Theriault family has set up a "Triplet Fund" at Fifth Third Bank in Indiana.