Pierre Robin Sequence

What is Pierre Robin Sequence?

Pierre Robin Sequence (PRS) consists of three findings: 1) a smaller-than-normal lower jaw, 2) a tongue that falls back in the throat, and 3) cleft palate. PRS can be isolated (in which the baby has no additional problems) or as part of a syndrome. The exact cause of PRS is unclear, but recent research points to a number of genetic factors.

Issues to Consider

PRS is rarely diagnosed prior to birth so is often a surprise to parents. Fortunately, major advances in craniofacial surgery have greatly improved treatment options. The three findings of PRS can affect other aspects of your baby’s health. Patients often have difficulty with breathing, feeding, and weight gain. They are at risk for more ear infections and sometimes are missing teeth. Parents and pediatricians need to be mindful of these additional issues.

One of the functions of the lower jaw is to maintain the tongue in a forward position. This keeps the tongue in a functional position to assist with eating and prevents it from blocking the airway. When the lower jaw is smaller-than-normal, the tongue may block the airway and this causes the breathing difficulties in infants with PRS. Problems with feeding result and weight gain may be poor.

The most important initial step in your infant’s management is to ensure that he or she can breath well. The NICU nurses may position the infant on his or her tummy, allowing the tongue to fall away from the airway. Infants with PRS should not sleep on their backs. If breathing problems persist despite changes in position, the infant may require the insertion of a temporary breathing tube called a nasopharyngeal airway which runs from the nasal passage to behind the tongue.

At this point, the NICU team will expand to include a geneticist (to confirm the diagnosis of PRS and to determine whether the diagnosis is in isolation or as part of a syndrome), a craniofacial surgeon (to discuss the full range of treatment options), and an ENT (to take images of the airway and determine whether the breathing problems are in fact related to the small lower jaw and tongue). We encourage second opinions, and it is not uncommon for an infant’s care to be transferred to a facility that offers full management of this condition.

How is PRS treated?

As craniofacial surgeons, we are consulted in the NICU for PRS babies. We work with a multidisciplinary team to care for the child. For mild breathing difficulties, we recommend lateral (side) or prone (tummy) positioning. If residual breathing problems exists, a nasopharyngeal airway may be necessary.

Treatment options center around this concept of maintaining adequate breathing and feeding as it relates to the position of the lower jaw. If an infant breathes and feeds well with lateral (side) or prone (tummy) positioning, then the infant is monitored closely and allowed time for the lower jaw to grow. As the mandible grows, the tongue moves forward and an infant with mild PRS can, in a sense, outgrow the condition.

If eating and breathing remain impaired despite positional changes, then additional measures are considered. The first treatment is the nasopharyngeal airway. This may require weekly changes from one side to the other over the span of several months. This measure enables additional time for the lower jaw to grow, which moves the tongue forward, away from the airway passage.

If the breathing and feeding impairment is more substantial, then surgical options should be discussed. These include a tongue-lip adhesion, a tracheostomy and mandibular distraction osteogenesis. At Wellspring, we work to avoid tracheostomies and tongue-lip adhesions whenever possible. Instead, we favor what is called “distraction osteogenesis,” which refers to a procedure in which both sides of the lower jaw bone are separated and then a titanium plate slowly moves the jaw bone forward over the span of 2-3 weeks.

New bone fills into the resulting gap, and once the bone is in good position, it is allowed to harden over approximately 2 more months. In effect, the lower jaw is grown forward, and this brings the tongue forward and opens up the airway. In PRS babies, the titanium plates are removed during the same procedure as the cleft palate repair, at approximately 3-4 months of age. This procedure has led to a dramatic decrease in the need for tracheostomy in PRS infants.

Mandibular distraction is a procedure that is often performed in children with jaw deformities such as micrognathia (small jaw) in Pierre-Robin Sequence or with Hemifacial Microsomia(asymmetric jaw). This procedure takes approximately 3 hours, and, in some cases, the infant will need to keep a breathing tube for 1-3 days after the procedure. The patient remains in the hospital 3-5 days after surgery.