Pierre Robin Sequence
Pierre Robin sequence refers to a group of birth defects that appear together. These include a small lower jaw (micrognathia) and an abnormal tongue that falls back toward the throat (glossoptosis) causing breathing problems. Pierre Robin sequence is often associated with cleft palate. It is referred to as a sequence because it is believed that these deformities occur as a series of events that affect each other beginning with the lower jaw. As the embryo grows, this defect leads to problems with the tongue, which causes clefting of the palate. This condition is also known as Robin Anomalad, Pierre Robin complex and Pierre Robin syndrome.
Children born with Pierre Robin sequence have the following deformities:
- A small lower jaw (micrognathia)
- A tongue which falls back toward the back of the throat (glossoptosis)
- Breathing problems
- U-shaped cleft palate
In addition to these physical symptoms, your child may also experience feeding problems, ear infections and impaired hearing. About 40 percent of infants with Pierre Robin have stickler syndrome and about 15 percent have velocardiofacial syndrome.
Stickler syndrome is a tissue disorder that is associated with cleft palate, cataracts and/or retinal detachment at an early age, a flat face, a small jaw and skeletal abnormalities.
Velocardiofacial syndrome, also known as VCFS or DiGeorge syndrome, is commonly associated with cleft palate. Characteristics of this syndrome include: a long face with a prominent upper jaw, flattening of the cheeks, an underdeveloped lower jaw, a bluish color below the eyes, a prominent nose with narrow nasal passages, a long thin upper lip and a down-slanting mouth, cleft palate or submucous cleft palate.
Your doctor may recommend genetic testing to determine if your infant has either of these associated syndromes.
What causes Pierre Robin sequence?
The cause of Pierre Robin Sequence is unknown. However, many medical experts believe it occurs due to the positioning of the fetus in the early weeks of pregnancy. There does not appear to be a clear genetic link. Your risk of having another child with Pierre Robin sequence is very small unless it is related to a syndrome.
Treatment for children with Pierre Robin sequence focuses on treatments to resolve breathing and feeding problems. This is followed by surgery to repair the cleft palate and treatment to prevent impaired hearing.
Breathing and feeding problems
During the first few months of life, our priority is to keep your infant's airways open. In many cases, it is necessary to keep your infant on his or her stomach to prevent the tongue from blocking the upper airway. If your infant continues to have problems, we may recommend other methods to keep the airway open. The first of these includes a nasopharyngeal airway, also called a nasal trumpet. This involves placing a small tube through the nose into the upper airway. If this is not effective, your doctor may recommend enlarging the lower jaw in a procedure called distraction osteogenesis. This technique involves implanting a small metal device in the lower jaw to gradually lengthen it. In severe cases, it may be necessary to perform a tracheotomy in which a breathing tube is placed in the windpipe to allow breathing.
Once your child's breathing problems have been resolved, feeding also becomes easier. If feeding is still a problem for your child, he or she may need to be fed through a tube, which is placed from the nose to the stomach for the first few months of life. Other problems that may develop due to breathing and feeding problems include gastric reflux and aspiration of liquid into the windpipe. These problems can be treated with medicine and dietary changes.
Cleft palate and hearing problems
When your child reaches nine to 12 months of age, your doctor will likely recommend surgery to repair the cleft palate. Many children with cleft palate experience fluid buildup behind the eardrum, which can impair hearing. If this is the case, your child may need tympanostomy tubes, which are small plastic tubes inserted into the eardrums to improve hearing. Our ear, nose and throat specialist and hearing specialist will monitor your child's condition to ensure he or she is hearing normally.
Neonatal mandible distraction osteogenesis
In some cases, infants with Pierre Robin sequence will benefit from early jaw surgery to avoid a tracheotomy. Our craniofacial experts will carefully evaluate and monitor your infant to determine the most appropriate and effective treatments for your child.
Early jaw surgery is recommended in severe cases in which your child's breathing cannot be improved through other more traditional methods. Early jaw surgery is called mandible distraction osteogenesis. This surgery involves making a break on both sides of the lower jaw and then placing a small metal distraction device under the skin and across the breaks, also called the osteotomy. Then gradually the device is used to slowly open the osteotomy gap and move the jaw forward. As the jaw moves forward, the tongue also moves forward, which open's your baby's airways. Once the jaw has moved to the correct position, a second surgery is performed to remove the metal device.