Pierre Robin Sequence

Pierre Robin sequence is named after French doctor Pierre Robin, who first described it in 1923. One in 2,000 to 30,000 babies has Pierre Robin sequence, according to the Cleft Palate Foundation.

Approximately half of babies with Pierre Robin sequence are also born with one or more other conditions, such as Stickler syndrome. Stickler syndrome involves small bones of the face, eye abnormalities, joint problems and hearing loss and is typically caused by changes in the collagen gene.

Pierre Robin sequence can show various symptoms that cause complications with:

• Breathing. The first sign of airway blockage (obstruction) is often rapid breathing. Your baby’s breathing may be noisy or sound like snoring or a high-pitched noise called stridor. Your baby may also sweat and be restless and/or irritable. Cyanosis (turning blue) is another sign of airway blockage. If your baby shows signs of airway blockage, you should report it to his or her doctor right away; the doctor may perform tests to determine whether special treatment is needed. A sleep study can check your baby’s breathing pattern, heart rate, oxygen level in the blood and carbon dioxide levels. Your baby will be observed while awake, asleep, eating and, most likely, in a car seat. The sleep study results will help guide your doctor in determining what treatment is best for your child. Treatment may include special sleep positioning requiring an apnea monitor, oxygen and/or an operation to help them breathe better. Most babies with Pierre Robin sequence outgrow their breathing problems by the time they are 6 months to 8 months old because the jaw grows quickly and moves the tongue away from the back of the throat. The baby also learns to control the tongue over time. However, a baby with Pierre Robin sequence will always have an airway that is smaller than normal.
• Feeding. If your child also has a cleft palate, he or she may have some trouble feeding as a newborn. The open palate makes it hard for the baby to suck. The baby can only get the formula out of a bottle by pressing the nipple against the gums or roof of the mouth using the tongue. It is even harder for babies to suck and swallow when they have trouble breathing. To determine whether your baby can suck, swallow and breathe safely, a doctor may order oxygen level tests and swallowing tests that are done via video X-ray during feeding. A feeding team can then be consulted for recommendations in creating a specialized plan to feed your baby safely and efficiently.
• Hearing. When a baby has a cleft palate, it is easy for fluid to collect inside the ears. When fluid sits in the ear, bacteria can grow and cause an ear infection. Fluid and infection can cause a temporary loss of hearing. If your baby develops a fever, is irritable, is crying, is not sleeping well or is pulling on his or her ears, the doctor or nurse practitioner should be consulted. These symptoms often happen at the same time as a cold or runny nose. If your baby has an ear infection, your child's doctor may prescribe an antibiotic. Your baby should also be checked by an otolaryngologist (ear, nose and throat doctor). The otolaryngologist should be a doctor who works with a cleft palate team or is familiar with caring for babies with cleft palate.
• Speech. The palate is important for speech. Your child may have trouble making some sounds when he or she begins to talk. Speech therapy is often recommended. Your child should see a speech pathologist who is experienced with children who have cleft palates.

Diagnosis of Pierre Robin Sequence

Pierre Robin sequence can be diagnosed prenatally (before birth) via a routine ultrasound. After the baby is born, Pierre Robin sequence is diagnosed through a combination of physical exam and other tests as requested by your child's doctor. A geneticist can help determine whether your baby has a related syndrome through genetic testing.