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Pierre Robin Sequence

• A group of birth defects that appear together
    o These include a small lower jaw (micrognathia) and an abnormal tongue that falls back toward the throat (glossoptosis) causing breathing problems.
    o 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
• Pierre Robin syndrome.

Symptoms

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
• Impaired hearing

About 40 percent of infants with Pierre Robin have Stickler syndrome, a tissue disorder that is associated with:
• Cleft palate
• Cataracts and/or retinal detachment at an early age
• A flat face
• A small jaw
• Skeletal abnormalities.

About 15 percent have velocardiofacial syndrome, also known as VCFS or DiGeorge syndrome, which is commonly associated with cleft palate.

Your doctor may recommend genetic testing to determine if your infant has either of these associated syndromes.

What causes Pierre Robin sequence?

While the cause is unknown, 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

Treatment for children with Pierre Robin sequence focuses on resolving 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 keeping 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, including a nasopharyngeal airway, also called a nasal trumpet.
    o This involves placing a small tube through the nose into the upper airway.
    o If this is not effective, your doctor may recommend enlarging the lower jaw in a procedure called distraction osteogenesis.
    o 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 severe cases, infants with Pierre Robin sequence will benefit from early jaw surgery (mandible distraction osteogenesis) to avoid a tracheotomy.
• Recommended when your child's breathing cannot be improved through more traditional methods
• 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
    o The device is used to slowly and gradually open the osteotomy gap and move the jaw forward.
    o As the jaw moves forward, the tongue also moves forward, which open's your baby's airways.
    o Once the jaw has moved to the correct position, a second surgery is performed to remove the metal device.

Our craniofacial experts will carefully evaluate and monitor your infant to determine the most appropriate and effective treatments.