Pierre Robin Sequence

What is Pierre Robin Sequence?

Pierre Robin Sequence is the name given to a set of symptoms that a child can have shortly after birth and includes a small lower jaw (micrognathia), a tongue that is pushed back into the throat (glossoptosis), and airway obstruction.  Often, these are associated with a cleft of the soft palate. In most cases, the tongue and the airway structures are normal and the problem is related to the size of the lower jaw. This is why it is considered a sequence and not a syndrome.  The tongue is connected to the base of the lower jaw and is pushed backward when the lower jaw is very small. This causes the tongue to block off the upper airway resulting in respiratory distress. If the tongue is displaced early in embryology, it could block the back of palate from meeting together in the middle forming a cleft.

What causes Pierre Robin Sequence?

There are thought to be both genetic and environmental causes of Pierre Robin Sequence.  Intrauterine constraint due to low amniotic fluid or multiparity (twins, triplets, etc) could cause pressure on the lower jaw that wouldn’t allow it to grow normally.  There are also a large number of genetic syndromes that are associated with Pierre Robin Sequence. The two most common of these are Stickler Syndrome and 22q11 deletion syndrome (DiGeorge syndrome).

Treatment of Pierre Robin Sequence

Pierre Robin Sequence can be variable in its severity.  We judge the severity based on the affect it has on the airway.  Some children will just need a little supplemental oxygen and to be placed on their side to sleep while others will require intubation with a breathing tube and ventilator immediately after birth.  This is purely dependent on how much obstruction the tongue causes on the upper airway. More mild cases tend to resolve on their own within a few weeks to months. More moderate and severe cases (based on overnight sleep studies) may require surgical intervention.  Historically, a tracheostomy was the only option to relieve the airway obstruction. This is still an option today, but is considered a last resort if the child fails or is not a candidate for other options. A procedure called a tongue lip adhesion was developed to avoid a tracheostomy and entailed sewing the tip of the tongue to the inside of the lower lip to pull the tongue forward and relieve the airway obstruction.  This method avoided a tracheostomy but had significant complications (failure to relieve airway obstruction, oral aversion, significant scarring, and stitches pulling apart). Recently, a concept called distraction osteogenesis (cutting a bone and slowly pulling it apart allowing new bone to fill in the gap) has been shown to work well in the small infant jaw bone. Small incisions are made in the neck to access the lower part of the jaw bone.  A small cut is made in the jaw bone and a distractor device is attached to each side of the cut. Once the incisions are closed, the distractor handle is turned every day growing the lower jaw by about a millimeter a day. Multiple studies are showing that this method does a better job at alleviating airway obstruction than the tongue lip adhesion. It also has complications (tooth disruption, device failure, failure for new bone to develop, infection, and fusion of the TMJ).  However, a carefully planned procedure in the right patients and at the right time have fewer complications. Our team prefers mandibular distraction for most of our patients and is usually performed at around 1 month of age (adjusted for prematurity).

Additional Information

Contact the Cleft & Craniofacial Institute of Utah today to set up a consultation with the doctor and discover your options for treatment.