What is Pierre Robin Sequence?
Pierre Robin Sequence (PRS) is a birth defect named for the French Doctor, Dr. Pierre Robin (pronounced ro-BAN), who first defined the disorder in 1923. It is called a “sequence” since most doctors feel that PRS is the result of a sequence of events which happen to the baby early in the pregnancy. First the lower jaw does not grow normally. Then the tongue develops in an abnormal position. The tongue placement prevents the roof of the mouth (palate) from closing. So babies are diagnosed with PRS when they have these three signs:
- a small jaw (micrognathia) and, in many cases, a very receding chin (retrognathia),
- an abnormal attachment of the tongue (glossoptosis) in the back of the throat which makes the air passage through the back of the throat very narrow and leads to breathing problems
- a cleft palate (a few babies with PRS babies do not have this)
How is Pierre Robin Sequence Diagnosed?
There is no special test to diagnose PRS. Some babies are diagnosed during fetal ultrasounds when the small jaw and the cleft palate are seen. After birth, the diagnosis is made based on the baby‘s physical exam and the observed feeding and breathing problems. There are tests that may be done to determine the severity of the defect such as x-ray or fiber-optic swallowing studies. The baby’s oxygen levels may be constantly monitored to determine if the levels fall during sleep (sleep apnea), while eating or when in certain positions.
PRS may be the only birth defect in a baby, but can be part of a syndrome. There are more than 30 syndromes that can include PRS. Stickler Syndrome and Velo-cardio-facial Syndrome (VCFS or deletion 22q) are the two most commonly associated syndromes. A geneticist will be consulted when there are other unusual findings that are not found in PRS alone so that genetic testing can be done. Babies with isolated PRS (no associated syndromes) usually have normal motor and learning skills after their breathing and feeding issues are corrected.
How is Pierre Robin Sequence treated?
Because of the specialized care needed by babies with Pierre Robin Sequence, their care should be coordinated by a Craniofacial Team. This webpage explains about these teams: http://www.cleftline.org/publications/choosing_team. Not only will the Craniofacial Team have the most experience dealing with PRS, but it will have the wide range of experts needed to treat the problems that arise from birth until adulthood.
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