“I used to only be able to think of one thing at a time. Now I can think of many things,” MJ, 16, told his doctor, Christopher Gordon, M.D., a plastic surgeon at Shriners Children’s Ohio.
MJ was born with Crouzon syndrome. He had many of the common characteristics of this craniofacial condition, including wide, bulging eyes, protruding tongue and difficulty walking. The condition is caused by a mutation that causes the skull bones to mature and fuse too quickly, so the brain is compressed and can’t grow the way it should.
Dr. Gordon recalled the conversation he had with MJ just a few months after major surgery to relieve the pressure in his brain. Now that his brain has room to grow, not only is MJ able to “think of many things,” but the teen can walk steadier and even jog.
Crouzon syndrome is one of several conditions caused by a mutation in the Fibroblast Growth Factor Receptor (FGFR), which is involved in neural and skeletal development. Treacher- Collins, Goldenhar, Apert and Crouzon syndromes are some of the most common FGFR disorders.
Dedicated craniofacial care
Christopher Gordon, M.D.
Thousands of babies are born every year with craniofacial abnormalities ranging from minor cleft palate with or without cleft lip to more complex malformations that involve the teeth, skull, jaw and ears. These can often lead to problems with feeding, hearing and sight, and require a specialized team working toward one goal: the best outcome for the child.
With cleft lip and palate making up the largest percentage of craniofacial conditions a child can face, other anomalies range from uncommon to rare. Many parents struggle to find doctors with the expertise to treat their child.
That’s where Shriners Children’s comes in. Craniofacial surgeons at our hospitals and clinics specialize in treating these rare conditions that many doctors have never even seen.
For Dr. Gordon, helping children born with craniofacial conditions is his life’s work. One of the rarest conditions is Apert syndrome, which typically includes deformities of the skull, face and limbs. Symptoms include a high forehead, underdeveloped upper jaw and wide-set eyes. Children can also have problems with their vision and teeth.
“Apert syndrome is something I thought I’d see maybe once in my career, but the word is getting out that Shriners Children’s has the expertise and resources to care for children with this condition, and Shriners Children’s Ohio is currently treating five children.” To date, craniofacial teams from 13 Shriners Children’s locations across the U.S. have treated, or are currently seeing, patients with this extremely rare condition.
A comprehensive team of specialists
While craniofacial conditions vary, Dr. Gordon is confident that Shriners Children’s multidisciplinary approach creates life-changing outcomes.
“At Shriners Children’s, the children we take care of are treated by a team of specialists,” he said. “We consult with neurosurgeons, speech therapists, dieticians, nurse care managers, and physical and occupational therapists.” Cleft and craniofacial teams across the healthcare system also include pediatric psychologists to support the emotional needs and school experience of patients with craniofacial differences.
“I can’t imagine what it’s like to be a parent [of a kid] with this kind of diagnosis,” Dr. Gordon said. “But we want families to know we are going to take great care of their child and get them an amazing outcome.”
Imaging for precise treatment
Shriners Children’s Chicago expanded on site imaging by adding a cone beam CT machine, offering advanced imaging for patients with cleft and craniofacial conditions.
Advanced imaging is another hallmark of care for Shriners Children’s patients with cleft and craniofacial conditions. Shriners Children’s Chicago expanded its on-site imaging this year with the addition of a cone beam CT machine (CBCT). The device evaluates a patient’s facial anatomy, particularly the bones and dental structures, providing important data to pediatric plastic surgeons.
“Quality imaging is essential to accurately plan and time surgical procedures,” said David Morris, M.D., medical director of the cleft and craniofacial team at the Chicago hospital.
With the child seated, a rotating arm moves around the patient, and a coneshaped X-ray beam, which delivers less radiation than traditional CT scanners, provides physicians with a 3D image of the child’s mouth, jaw, airway, neck, teeth, ears, nose and throat. “These images are used to directly plan jaw surgeries and evaluate the outcomes of such surgeries,” Dr. Morris said.
A new smile for Kayla
Kayla before and after receiving her jaw surgery.
Kayla is an aspiring artist with a great imagination. “Kayla always has ideas,” said her mom, Lilly. “She loves to draw and is a great organizer.”
Kayla, who is deaf, had a noticeable underbite, and as a result, her teeth did not meet correctly. This made it hard to bite, chew and eat comfortably. Dr. Morris scheduled Kayla for orthognathic (or jaw) surgery at Shriners Children’s Chicago. Dr. Morris performed surgery to reposition Kayla’s jaw. Now her teeth and jaws are aligned, and she can focus on building her creative business.
The pair frequently talked about art projects they are working on. The family said the care and the setting surpassed expectations. “It was incredible, amazing,” said Lilly. “It seemed like when you walked in, everybody already knew who you were.”
Chad Purnell, M.D.
Filling the research gap
For children born with craniofacial microsomia, one side of their face is underdeveloped. This causes an asymmetry, with half of the face being smaller — usually the ears, jaw and mouth, and possibly the eyes, cheeks and neck.
Craniofacial microsomia is the second most common craniofacial anomaly after cleft lip and palate. But it is still very rare, occurring in only an estimated 1 in every 3,500 to 5,600 births. As a result, little attention has been given to the causes of this condition. In fact, it has hardly been researched at all.
Chad Purnell, M.D., a pediatric plastic surgeon at Shriners Children’s Chicago, is ready to fill that research gap. With a passion for caring for children with craniofacial disorders, Dr. Purnell and the team of eight plastic surgeons have helped build the Chicago hospital’s reputation for providing successful surgical outcomes for kids with craniofacial microsomia.
Dr. Purnell has teamed up with Shriners Children’s Philadelphia plastic surgeon Eric Chien-Wei Liao, M.D., Ph.D., who is also director of craniofacial innovation at Children’s Hospital of Philadelphia, to remedy this. Together, they are in a unique position. They have built reputations for treating craniofacial microsomia, so Shriners Children’s has the patient population to study the genetic causes of the rare condition. Dr. Purnell and Dr. Liao intend to compare patients’ DNA to that of their parents, looking for potential causes. They hope to compare differences in presentation and DNA to learn about what influences severity and study DNA from each side of the face.
Apert syndrome is one of the rarest craniofacial conditions, but Shriners Children’s has the expertise and resources to care for children with this condition.
“You can’t treat anything well until you understand it well,” said Dr. Purnell. “Our understanding of this disease process is very limited. We’re hoping this study helps us understand the mechanisms. If we understand the mechanisms, we can better treat it.”
