Pfeiffer Sydrome
Contents
Overview
Pfeiffer syndrome was not recognized as a unique syndrome until 1964, when R.A. Pfeiffer first described eight people with this condition (all in the same family, spanning three generations). It results from a change, or mutation, in a single gene, which can produce slightly different physical traits and variations in severity.
The cause of Pfeiffer syndrome is unknown. In nearly all cases, both parents have normal genes, and a mother does “everything right.” Bringing together two parents’ genes to make a new baby is complex, and if a mutation occurs in just one spot, Pfeiffer syndrome can result. Research suggests that the mutation often comes from the father’s side, even though he does not have this condition.
The chance of two unaffected parents having a child with Pfeiffer syndrome is somewhere around 1 in 100,000 births. It is not possible to have Pfeiffer syndrome without knowing it, as the condition is always physically apparent.
When an adult with Pfeiffer syndrome has children, the condition follows an autosomal dominant inheritance pattern, which means that there is a 50% chance of passing it on with each birth. If both parents have Pfeiffer syndrome, there is only a 25% chance of not passing on the condition. Today, individuals can prevent transmission through in-vitro fertilization and genetic testing, selecting embryos without the Pfeiffer mutation for implantation.
Types of Pfeiffer Syndrome
Pfeiffer syndrome has been linked to two different genes on the 10q chromosome. The most common mutation is on a gene called FGFR2, but rarely this mutation involves the FGFR1 gene. Three subtypes of this condition have been described based on physical characteristics: Type I, Type II, and Type III. In practice, the distinctions among these types can overlap, and the boundaries between them are not always clearly defined.
Type I is the most common and generally the mildest form. Children with Type I typically have normal intelligence. Type II and Type III are more severe and are more often linked with complex medical issues and, at times, some degree of developmental delay. Type II can be distinguished from Type III by the presence of a characteristic “cloverleaf” skull shape (Kleeblattschädel). Children with Type III are typically the most severely affected; although they do not exhibit the classic cloverleaf skull, they may have an unusually tall cranial shape. Some studies have indicated that children with Types II and III may face a higher risk of early mortality, with reported rates ranging from 25% to 85%. In contrast, outcomes appear significantly better at highly experienced centers, particularly those with specialized expertise in Pfeiffer syndrome (Publication #34).
It is generally not possible to determine a child’s sub type through genetic testing alone. This is partly because the same FGFR2 mutation that causes Pfeiffer syndrome can also lead to a related condition, Crouzon syndrome, which is distinguished by normally shaped thumbs and big toes rather than the enlarged digits characteristic of Pfeiffer syndrome. Additional genes beyond FGFR2 may play a role in determining which condition develops, and other influences, such as epigenetic factors, may also contribute. Children with FGFR1 mutations typically present with a milder form of Pfeiffer syndrome. Consulting with a geneticist can help families gain a clearer understanding of the genetic factors involved in these conditions.
Physical Traits
The Skull
The skull is made up of separate bones and the spaces between these bones are called sutures (if you want to see a picture of these sutures go to Craniosynostoses section). In Pfeiffer syndrome, starting with the coronal sutures (running across the top of the head from ear to ear), most all of the sutures of the skull may eventually fuse shut. Once closed the skull cannot grow normally from front-to-back, causing the brain to grow upward and making the head appear taller.
Sometimes, the metopic suture, which runs vertically down the middle of the forehead, will split open like a seam tearing apart on a tight pair of pants. This will leave a large V-shaped soft area that can be felt, which later eventually closes up with bone.
The Brain
The brain contains fluid-filled ventricles, which are kind of like small lakes inside the head that are filled with what is called cerebral spinal fluid (or CSF). Most children with Pfeiffer syndrome have bigger ventricles, but this usually does not require any treatment. However, should they fill up with too much fluid they can begin to squish the brain from the inside. This condition is called hydrocephalus, and when this happens a neurosurgeon must then decide if it is better to place a shunt (small tube to drain off the extra fluid), or in selected cases, a third ventriculostomy (ETV). Our research has found most children with Pfeiffer syndrome never develop true hydrocephalus. However, we have noted that a higher percentage of children coming to our Center after having first been treated somewhere else have shunts, compared with those who began treatment at our Center. This suggests that centers having limited experience treating this condition might be mistakenly believing that these larger ventricles, which are normal in Pfeiffer syndrome, must be treated. We have learned that if a baby’s head circumference continues to follow their established growth curve, they usually do not have hydrocephalus.
Another condition we look for is called a Chiari malformation. This is where part of the brain (the cerebellar tonsils) push down through a hole in the floor of the skull (called the foramen magnum), much like a cork in a wine bottle. When this develops it can squish the spinal cord, causing central sleep apnea. With central apnea, a child will occasionally “forget” to breathe while asleep, lowering oxygen levels to the brain. There is no way to tell if this is happening by just watching your child sleep, it can only be diagnosed with an overnight sleep study. A Chiari can also cause another issue called a syrinx, or syringomyelia. This when the center of the spinal cord gets enlarged with fluid, causing small bulges inside the cord. Lastly, we have learned that when children develop a Chiari this can be a sign for elevated intracranial pressure, signaling the need to enlarge the skull to create more room for the brain (Publication #19). Chiari malformations are usually not present in babies but can develop over time. This is why at our Center we recommend routine monitoring with MRI scans. It turns out that while CT scans are good at revealing the shape of the skull bones (which can also be seen on a regular exam), they are not as good for detecting what is going on with the brain. We have found that somewhere between 70% and 100% of children with Pfeiffer syndrome (depending on the sub type) will develop a Chiari. However, not all Chiari’s require treatment, only those that cause symptoms. Some things we watch for include: difficulty swallowing, coordination issues, cough headaches, central sleep apnea, and the development of a syrinx. There are different surgical approaches for treating a Chiari malformation and parents are advised to seek second opinions at centers specializing in treating these rare conditions.
One constant concern for any child with Pfeiffer syndrome is the possibility of raised intracranial pressure. We know that with Pfeiffer syndrome the brain is usually a little bit bigger, probably because of the larger ventricles. Although the skull can grow even with sutures fused shut (craniosynostosis), it is unable to do so in a completely normal way. This may lead to a buildup of pressures inside the head that can reduce blood flow to the brain. We believe this rarely happens before a year of age. When we become concerned about this possibility, it is treated by surgically enlarging the skull (see Treatment below). This procedure usually needs to be done somewhere between two and four times during a child’s lifetime. The longer this operation can be safely delayed (we believe many surgeons mistakenly operate too early) and the better the operation is performed, the fewer operations a child will need over their lifetime.
Currently, no one is exactly sure what the ideal age is for the first skull‑enlargement operation. Studies suggest that most craniofacial surgeons perform the first skull enlargement around 6 months of age. Our research suggests that doing surgery at this early age is too soon (Publication #98). This is because surgery hurts the future growth of the head, meaning more operations will be necessary later. In Dallas, we believe it is safe to delay the first skull surgery up to around 15 months of age, or even longer depending upon the shape of the skull. Not only do we feel this delay is safe, we are convinced that waiting until a child is older before enlarging the skull can reduce the total number of lifetime operations.
Sometimes parents are told that their child has raised pressure and must undergo surgery right away. It is very important that parents first determine exactly what has convinced their doctor that an urgent operation is really necessary. Surgeons with less experience may worry about elevated intracranial pressure well before they need to be concerned, and performing surgery before it is necessary can cause more harm than good. How can doctors find out for sure if there is intracranial pressure? This can be done in several ways:
- An eye doctor (ideally a neuro‑ophthalmologist) examines the optic nerves. When pressure is elevated inside the head, the nerves in the back of the eye will appear to be bulging. When found (this is called papilledema) it indicates the need for surgery, and surgery should be probably be done within the next month or two. However, eye exams are not completely reliable; sometimes the eye exam can look normal even when there is elevated pressure.
- Follow head circumference measurements. A falling head circumference can raise the concern that intracranial pressures might be developing.
- Perform Visual Evoked Potentials (VEP’s). This test measures the speed of signals going from the eye to the brain. However, this test can be unreliable and therefore is infrequently used.
- Perform Optical Coherence Tomography. This test measures the thickness of the back of the eyeball. Few centers use this test, but it is considered to be more reliable than VEP’s.
- Monitoring changes in MRI scans. More experienced centers use these scans to determine if there is elevated pressure. The MRI must be done in a special way to permit measuring the widths of the optic nerve sheaths (Publication #91). At our Center in Dallas, we believe this is the best test currently available.
- Direct intracranial pressure testing. This involves a short operation to place a tiny catheter inside the skull to directly measure pressures for one or two days. It is considered the most accurate way to determine if there is intracranial pressure. Some centers might suggest a quick measurement of pressure (“spot check”) via a spinal tap, but we believe this test has limited indications.
Most children with Pfeiffer syndrome have normal developmental and intelligence. However, children who undergo multiple anesthetics and surgical procedures might be at greater risks for potential developmental delays. In addition, other factors such as chronic sleep apnea and abnormal brain development can also result in impaired development. I believe that the most important thing that those caring for children with Pfeiffer syndrome can do to help children realize their full potential is to ensure that they do not have sleep apnea and to limit the number of lifetime operations. It is also critically important for parents to challenge their child to develop to his or her fullest.
The Eyes and Midface
Children with Pfeiffer syndrome often have eyes that appear larger and tilt slightly downward. Actually, the eyeballs themselves are normal in size. They just look bigger because the bones around the eyes (the orbits) don’t grow forward as they typically would. In some children, the eyes can bulge forward more than usual, a condition called proptosis or exophthalmos. When this happens, the surface of the eye can dry out, which may lead to irritation or scarring that can affect vision. In more severe cases, when a child cries, the eyelid can momentarily slip behind the eye. If this happens, gently placing something soft and moist, like a wet cotton swab, under the eyelid can help pop it back into place. If this problem happens repeatedly, a small procedure called a tarsorrhaphy can help. This involves partially stitching the outer corners of the eyelids together to protect the eye.
Some children with Pfeiffer syndrome may also develop optic nerve atrophy, which means the nerve that carries visual information to the brain becomes weaker. Our research suggests this happening in up to 23% of children with Pfeiffer syndrome, and it seems that the presence of a Chiari might make this more likely (Publication #91). When this occurs, it can affect a child’s vision. The exact cause isn’t fully understood, but it may be related to long‑term increases in pressure inside the skull.
The most common eye issue in children with Pfeiffer syndrome is strabismus, which means the eye muscles don’t work together the way they should. In some children, one of the six muscles that normally help move the eye, called the superior oblique muscle, may not be there at all. Because of this imbalance, many children need eye‑muscle surgery to help the eyes work together and to prevent amblyopia, a type of vision loss that can occur when the brain starts to favor one eye over the other.
The midface is the area between the eyes and the upper teeth. In children with Pfeiffer syndrome, this part of the face is smaller than usual and doesn’t grow in the typical way. The deepest point of the face is often the top of a shortened nose. Because the midface doesn’t grow forward normally, with growth being affected in all directions, many children will need surgery to bring this area forward, sometimes more than once as they grow. Measurements from our center suggest that the midface in children with Pfeiffer syndrome grows forward at only about one‑third the normal rate, and another research study from our Center found that forward growth may stop around age nine (Publication #25). A smaller midface can make the eyes look larger and can also contribute to breathing difficulties because the nasal passages are very narrow.
The Ears
A BAHA hearing aid
In children with Pfeiffer syndrome, the ears are usually shaped normally, though they may sit a little lower on the head. Because the middle part of the face doesn’t grow as it typically would, the Eustachian tubes, which help to balance pressure on both sides of the eardrum, don’t work as well. This often leads to fluid building up behind the eardrum, making it hard to hear and causing more frequent ear infections. Most infants need small ear tubes to help with drainage and to prevent repeated infections or long‑term scarring of the eardrum. As children grow, this drainage problem usually improves.
In addition, some of the tiny bones inside the ear may be partially fused together, which can cause conductive hearing loss. Some sub types of Pfeiffer syndrome may even have incompletely formed external ear canals. Many adults with Pfeiffer syndrome experience some degree of hearing loss, so keeping a close eye on ear health during infancy and childhood is very important. Rarely, children may be candidates for bone‑anchored hearing aids (BAHAs), which are implanted directly into the skull. We generally recommend delaying implantable BAHA placement until the teenage years, as the presence of a BAHA can interfere with certain types of skull remodeling that are often needed during adolescence.
The Mouth, Palate, and Airway
Another issue related to the small midface is that the palate, or roof of the mouth, often has a narrow, high arch. This high arch pushes up the floor of the nose, which makes it hard for children to breathe through their noses. Because the back of the nose is pushed up, parents may notice that their toddler’s nose seems to “run” almost all the time. This can get better as children grow, but the long‑term solution happens in the teenage years, when the midface is brought forward and the bite is corrected. This surgery also helps open the nasal passages and improves breathing.
The windpipe, or trachea, is held open by C‑shaped rings of cartilage, similar to the metal rings in the tubing behind a clothes dryer. These rings are open in the back so the trachea can expand when we cough or take a deep breath. In Pfeiffer syndrome, the rings may not open normally, or they may become O‑shaped (starting as a “C” and gradually closing into an “O”). In some cases, a small segment of the trachea may also be slightly narrowed, which can further contribute to breathing difficulties. When children show signs of airway problems, our team may recommend an examination under anesthesia, such as a laryngoscopy, upper endoscopy, or bronchoscopy. Whenever possible, this evaluation is coordinated with another scheduled procedure to minimize the number of anesthetics and operations a child undergoes. Children may also be referred to a pediatric pulmonologist (a lung specialist) if there are concerns about asthma. Just as importantly, infants and children should undergo routine testing for sleep apnea (when the brain does not receive enough oxygen during sleep), sometimes with yearly sleep studies.
The Abdomen
Based on our experience in Dallas, we believe that children with Pfeiffer syndrome may be at a slightly higher risk for a condition called malrotation, in which the intestines are twisted abnormally. When this occurs, a child can develop an intestinal obstruction, or blockage. The appendix may also be positioned in the left upper abdomen instead of the usual right lower abdomen. This condition is diagnosed with a test called an upper GI study and, when present, requires surgical treatment by a pediatric surgeon.
The Hands and Feet
With Pfeiffer syndrome, the thumbs and the big toes are usually wider than normal. This trait does not require any treatment but it is one of the findings that geneticist rely on to differentiate Pfeiffer syndrome from Crouzon syndrome. Although it is uncommon, there may also be fusion of the fingers or toes called syndactylies. Separation of these syndactylies is best done at experienced centers. This separation can sometimes be coordinated with another operations, in order to reduce the total number of operations a child must endure.
Treatment
The treatment of a child born with Pfeiffer syndrome is complex and is best provided by experienced craniofacial teams at major centers. Recent research from our Center suggests that we have the lowest published complication rate (2%) following operations to enlarge the head in children with syndromic craniosynostosis (Publication #98). This low complication rate compares very favorably, for example, with that of centers performing posterior skull distraction, which is associated with reported complication rates between 25% and 30%. The most common complication in our reviewed series was infection (6/498), which, interestingly, occurred only in secondary corrections. Our research also suggested that children who began treatment at other centers before transferring care to our Center had to undergo, on average, one additional skull surgery compared with those who began treatment in Dallas.
The following is a brief overview of how we care for our patients who come to Dallas for treatment. As a result of seeing a high number of children with Pfeiffer syndrome and conducting numerous research studies, our treatment approach differs significantly from what most other doctors might recommend. To begin with, our focus has shifted to maximizing intellectual development as the foremost priority. Our second goal is to significantly reduce the high number of operations that most children typically undergo.
Initial Treatment
The most critical issues in initially caring for children born with Pfeiffer syndrome are:
- Making sure that there are no problems with breathing.
- Protecting the eyes from damage.
- Ensuring adequate nutritional intake.
For infants who are more severely affected, a tracheostomy may be recommended shortly after birth. In other cases, families may be advised to take their child home with an oxygen saturation monitor, which alerts caregivers if the child is not receiving enough oxygen during sleep. Although many centers obtain a CT scan as an initial test, we typically do not, as we do not believe it influences how early treatment should begin. Instead, the first test we recommend is a sleep study. This evaluation helps determine whether sleep apnea is present and ensures the child is receiving adequate oxygen at night to support optimal brain development. Some children may also need to begin medication to help reduce gastro‑esophageal reflux (GER). When severe reflux goes unrecognized, it can occasionally cause infants to briefly stop breathing and turn blue.
For eye protection, early “permanent” tarsorrhaphies may be needed. This small procedure involves sewing the upper and lower eyelids together near the outer corners of the eye. Despite the name, it is not truly permanent and can be fully reversed when performed appropriately. For children with significantly prominent eyes, parents may be advised to keep a tube of Lacrilube or Genteal ointment at home to help keep the eyes moisturized until a tarsorrhaphy can be done. If a child’s eyelid becomes trapped behind the eye and you cannot gently bring the upper eyelid back over the globe using a wet cotton swab, apply a generous amount of ointment over the entire eye to prevent drying and irritation, and seek emergency medical care right away.
Skull Surgery
The best time for the first skull operation depends largely on how the skull is growing. Our general rule of thumb is to delay skull surgery for as long as possible. Children treated in Dallas may have surgery delayed until 15 months of age, or even older, depending on multiple factors. The reasons for this delay are complex, but one concern is that our operations can impair skull growth, meaning that performing surgery too early may lead to additional procedures later. Our research (Publication #98) supports the premise that safely delaying surgery can eliminate the need for one additional skull operation. Therefore, we believe it is best not to operate before 11 months of age. As babies grow and get bigger, their total blood volume increases, reducing the likelihood that a blood transfusion will be necessary. The operation may also be less risky. We routinely recommend that children receive a drug called erythropoietin before surgery to raise blood levels. We have published a study showing that children who received this drug before surgery had a much lower risk of needing blood transfusions (Publication #20). We also use a “cell-saver” to recycle much of the blood lost during surgery so it can be returned to the child during the operation (Publication #23). Using this combination of techniques, most children—now well over 90%—do not require any blood transfusions. We believe that reducing blood transfusions also lowers the risk of other more serious complications.
The surgical team. At our center, operations on the skull are always performed by a pediatric neurosurgeon and a craniofacial surgeon working together throughout the entire procedure. We believe that having two experienced surgeons present at all times improves both the speed and safety of the operation. In addition, only pediatric anesthesiologists with extensive craniofacial surgical experience are involved. One of our pediatric ENT specialists will often evaluate the child before surgery, and if needed, place ear tubes at the same time as the skull surgery, thereby avoiding the need for an additional anesthetic.
Length of surgery. Typically, skull surgery takes two hours, but children are in the operating room for a total of 4 to 4½ hours. Whether the front half of the skull is brought forward (anterior CVR or FOA) or the back half is moved further backward (posterior CVR) depends on the findings of a preoperative MRI scan (CT scans cannot show the most important areas of the brain). We do not shave any hair, although many centers still prefer to do so. Many years ago, I changed the typical straight-line incision to a wavy, zigzag incision after realizing that when children get their hair wet, it will part along a straight-line scar, making it obvious (Publication #10). Designing the incision in a wavy pattern helps to better hide the scar, especially when the hair is wet.
The goal of the skull surgery is to increase its size to give the brain more room to grow. Once a suture is fused shut, it cannot be “released” so it can begin to grow again. This is because it is impossible to surgically recreate a functioning suture. For this reason, it is essential that the surgery achieve a significant enlargement, otherwise little is accomplished.
Fixation. Surgeons use various techniques to hold the skull bones in place after moving them into position. We have previously reported that, because of the way the skull grows, when other surgeons use metal plates and screws to put the skull back together, these plates may eventually end up on the inside of the skull, with the screws poking into the brain. (Publication #12). While unaware of any cases in which this has caused a problem, we have nevertheless chosen to use only dissolving stitches to put the skull back together (Publication #21). With this technique, nothing artificial is left behind as the child grows. Dissolving plates and screws can also end up inside the skulls of growing infants and can weaken the skull bones, making subsequent operations more technically challenging. Rarely, in a very small percentage of cases, the dissolving plates and screws may melt into a liquid that can drain out through a small hole in the overlying skin. Therefore, although it is technically a bit more difficult to rebuild a skull using only dissolving sutures, we believe this technique provides the best results with the fewest complications.
Many years ago, with the hope of being able to enlarge the skull more than with traditional skull surgery, I evaluated the use of distraction devices. These devices have metallic rods that protrude from the head, which parents must turn daily to slowly expand the skull. I found that skull distraction was not only difficult for both the child and the parents, but it also required two operations instead of one (a second operation is needed months later to remove the device). I also found that distraction deformed the skull, had a higher complication rate, and did not appear to provide any better result than a single operation (Publication #53). Therefore, I no longer recommend this technique for my patients. I also believe that helmets should never be used on a child with craniosynostosis, as these restrict skull growth, which is something that should never be done in Pfeiffer syndrome.
At the end of the operation in Dallas, the scalp is closed with dissolving stitches. We never use metal staples, nor do we use drainage tubes, because both are painful when removed. We also do not place any bandages on the child. Instead, we simply wash the hair and comb it out before leaving the operating room.
Prominent eyes. The most critically important step at the end of an operation to enlarge the front half of the skull (anterior CVR or FOA) for children with prominent eyes is for the surgeon to place a dissolving suture to keep the eyelids partly closed—but not so much that the child cannot see. Unfortunately, we have seen several children operated on at other centers who did not receive these eyelid stitches and, as a result of postoperative swelling, ended up completely losing vision in one or both eyes.
Hospital stay. Children typically spend one night in the pediatric intensive care unit before being transferred to the floor the following day. We encourage parents to hold their child in their laps rather than keeping them in a crib after surgery. Today, no narcotics are given to children after surgery; instead, we keep them comfortable using intravenous acetaminophen and ibuprofen (Publication #58), which we have also found reduces nausea and vomiting. At our center, nearly all children spend only two nights in the hospital before discharge. The risks of surgery are very small at experienced centers. Many studies have shown that surgeons with the most experience tend to have the fewest complications (Publication #37). We have published a two‑center study (Publication #15) showing that no infections occurred in infants undergoing operations for the first time (although it is still possible for this to occur).
The average child with Pfeiffer syndrome usually needs more than one skull operation as they grow. It is very important that children be followed closely into their late teenage years to monitor for raised intracranial pressure, optic nerve atrophy, and the development of a Chiari malformation, which can progress with age.
Treating Breathing and Sleep Apnea
The most significant factor affecting mental development in Pfeiffer syndrome is not elevated intracranial pressure, but rather the amount of oxygen the brain receives during sleep. Difficulty breathing while asleep is known as sleep apnea, which occurs in two forms: central and obstructive.
- Central apnea is when the brain “forgets” to breathe. This is often caused by cerebellar tonsillar herniation (a Chiari), or less frequently from raised intracranial pressure. One treatment for central apnea is to enlarge the back of the skull, while simultaneously enlarging the bone around the upper spine to decompress the Chiari (Publication #48).
- However, obstructive apnea is the most common type of apnea in Pfeiffer syndrome. It is typically the result of a narrowed or blocked airway (most often, compressed nasal passages). If a child has mild obstructive sleep apnea, medication might be recommended as a first step. For more moderate apnea, a tonsillectomy might be considered, depending upon their size. The last option, short of major surgery, is to try CPAP (Continuous Positive Airway Pressure). This entails being fitted for a facemask, which is worn at night. Each time the child inhales, a gentle pressure is applied to help air reach the lungs. CPAP is typically very effective when used throughout the night; however, many parents find that their child removes the mask at some point, which can reduce the treatment’s overall success. Fortunately, there are some tricks to help children adjust.
If none of the above treatments are able to successfully provide healthy oxygen levels at night, then surgery might be necessary. Depending on a child’s age, either a tracheostomy or a midfacial advancement might be recommended. In Dallas, we believe that temporary tracheostomies are the safest option with the best overall outcomes for children under 7 years of age. For older children, however, we will consider a midfacial advancement (see below).
Surgery of the Midface
The midface describes the area between the upper teeth and the top of the nose. There are three basic operations used to bring the midface forward in Pfeiffer syndrome: the LeFort I, the LeFort III and the monobloc.
- The LeFort I brings the lower midface forward from the level of the upper teeth to just below the nostrils. However, this operation is usually reserved until children have completed their growth in teenage years.
- The LeFort III brings the entire midface forward in one piece from the upper teeth to the top of the nose, including the cheekbones.
- The monobloc brings the forehead and the midface forward at the same time.
Which operation is best? Some surgeons will recommend a monobloc procedure for their patients with Pfeiffer syndrome. In our view, while advancing both the forehead and midface at the same time may theoretically spare a child an additional operation, there are several reasons we do not offer this procedure to our patients. First, the optimal timing for advancing the forehead does not align with the optimal timing for advancing the midface, yet the monobloc is doing both at the same time. More importantly, research has shown that the monobloc carries a high risk of serious infection (Publications: #8, #66). This may be why the LeFort III is currently the most commonly performed operation for addressing midfacial issues in Pfeiffer syndrome. Although it is a major procedure, the LeFort III has the greatest impact on normalizing a child’s appearance and improving nighttime breathing. In our view, however, many surgeons perform this operation too early; some studies indicate the average age elsewhere is around 5 years. Our research shows that midfacial growth stops after this procedure, meaning that when it is done at a young age, a second operation is often required later in childhood (Publication #55). Based on our findings, delaying surgery until after age 8, and applying an appropriate degree of overcorrection, makes it very unlikely that a child will ever need a repeat LeFort III.
The LeFort III is performed using the same incision on the top of the child’s head that is used for enlarging the skull. During this procedure, the bones of the midface are released across the top of the nose, then along the floor of the orbits (under the eyes), and finally down each side of the cheekbones. No scars are put on the child’s face. With the traditional LeFort III, after the bones were loosened the midface would be moved forward as a unit and held in place with bone grafts (taken from the skull) and metallic plates and screws. In younger children, the teeth were wired together for 4-6 weeks. However, with our updated technique, bone grafts are unnecessary, and we do not use any metal plates or wire the teeth together.
Dr. Fearon first developed the halo-distraction technique for the LeFort III back in 1998. This technique utilizes a device called the RED (Publications #18, #25, #55), which is actually not red, but is purple in color. It gets its name from being a Rigid External Distraction device. The RED device is used primarily in growing children. With the RED procedure, the bones of the midface are loosened and then instead of pulling the midface forward on the table, and then filling in the gaps with skull bone, the scalp is instead closed, and a halo is attached to the outside of the head with 8-10 screws. Next, two wires are attached, under the upper lip (so there are no scars on the face), to the facial bones, which then extend to the halo. By turning screws daily on the halo, the midface is slowly (and painlessly!) brought forward. The children are allowed to eat soft foods, may go to school, and can even go swimming while wearing the RED. For some children wearing this device after surgery is easier than for others. Although some surgeons suggest their patients wear the RED for up to 3 months, at our Center they typical length of time is just 7 to 8 weeks. The RED is then removed under a brief anesthetic.
One advantage of using the RED device is that it requires a smaller operation than a traditional LeFort III. However, the greatest benefit is its ability to move the midface significantly farther forward than is possible with the traditional technique. We have treated more than 200 children with this approach, and our extensive experience has allowed us to continually refine and improve the surgical technique.
One example of a good result following a RED halo-distraction LeFort III on a young girl with Pfeiffer syndrome, seen before surgery (left), 3 years postoperatively (middle) and over 6 years postoperatively (right).
The Big Picture
Most children with Pfeiffer syndrome undergo far more operations than necessary and spend too much time in the hospital. With recent studies raising concerns about the potential effects of multiple anesthetics on the developing brain, it is even more important to limit the number of procedures. Too often, children with Pfeiffer syndrome are taken to the operating room for a single small procedure performed by one specialist who is not coordinating with others, resulting in multiple surgeries each year.
Whenever a child with Pfeiffer syndrome requires anesthesia, it is essential that all specialists work together to accomplish as much as possible during the same session. Ideally, families should have a single “quarterback” who oversees and coordinates care among all the different subspecialists to ensure the most efficient and thoughtful treatment plan.
Our experience treating children with Pfeiffer syndrome has shown us that the primary goal of care is to prevent avoidable developmental delays, giving each child the best possible chance to lead a normal life. It is equally important that the correct operation be performed the first time and that every effort is made to minimize complications. Operating too early may seem beneficial, but it often disrupts normal growth and leads to additional procedures later on.
It is not uncommon for us to meet children who began treatment at other centers yet have made little progress. They have endured the discomfort of surgery, only to require the same procedure again because it was performed too early or not carried out in the most effective way. We believe strongly that children should be given substantial periods away from the hospital so they can grow, develop, and thrive to their fullest potential.
Ideally, parents should bring their child to the most experienced craniofacial centers they can access. In general, the busier the surgeon, the fewer the complications and the better the outcomes. Treatment recommendations evolve over time and can differ from one center to another, so it is important to discuss the overall treatment plan thoroughly with your doctor and ensure that all your questions are fully answered (see Choosing a Doctor).
Take the time to learn as much as possible, seek more than one opinion, and continue searching until you find a physician who has both the experience to achieve the safest, best results and the commitment to coordinate all the specialized care your child will need.
Jeffrey A. Fearon, MD
Director, The Craniofacial Center, Dallas Texas
972-566-6464
cranio700@thecraniofacialcenter.com