Birth Defect: Pierre Robin Sequence/Complex
What is Pierre Robin Sequence?
Pierre Robin (pronounced Roban) sequence or complex is a congenital birth defect that features a smaller-than-normal lower jaw (micrognathia) and/or a lower jaw that is set back from the upper jaw (retrognathia). As a result, the tongue is pushed towards the back of the throat where it fall back and obstruct the airway (glossoptosis). (CPF) Most infants, though not all, also have a cleft palate.
Pierre Robin Sequence occurs in 1 in every 8500 live births and affects boys and girls equally, except in the X-linked form which includes cardiac malformations and clubfeet. (Medscape)
It is called a “sequence” because literally a sequence of malformations contributes to the overall presentation of symptoms.
Symptoms include (list from PubMed):
- Cleft soft palate
- High-arched palate
- Small lower jaw with receding chin
- Jaw that is far back in the throat
- Recurring ear infections
- Natal teeth (teeth that are erupted at birth)
- Large tongue compared to the jaw
What Causes Pierre Robin Sequence?
Normally, at about 7 to 10 weeks of gestation, “the lower jaw grows rapidly, allowing the tongue to descend from between the two halves of the palate. If … the lower jaw does not grow properly, the tongue can prevent the palate from closing, resulting in a cleft palate. As a result, the tongue is displaced causing breathing difficulties at birth.” (CPF)
Pierre Robin sequence can happen on its own or in combination with another syndrome (Stickler, Velocardiofacial, Treacher Collins) so babies who present with symptoms should also be genetically tested for an associated syndrome. (CPF)
Treatment and Management of Pierre Robin Sequence
As with everything, severity of symptoms varies from patient to patient. Some patients will not need treatment at all. Others will require intervention at some time.
Infants with this condition should not be placed on their back. In some cases, breathing devices may be necessary to keep food out of the airway and aid in breathing. A pediatrician or ENT (ear, nose, and throat) specialist will regularly check for ear infections since “virtually all children with cleft palate are prone to the build-up of fluid behind the ear drum.” (CPF) In some cases, ear tubes may be necessary to help drain the fluid. If this part of the sequence is not addressed, “ear infections can cause temporary hearing loss that can affect speech and language development.” (CPF) Early hearing tests will also be important.
In most cases, the lower jaw will grow rapidly through the first year. By the age of 4 – 6, the child’s facial profile may look completely normal. In some cases, researchers aren’t really sure why, a child will not experience this growth and will require surgery to repair the jaw.
The cleft palate, however, will need to be surgically closed, usually at 24 to 48 months. “[C]hildren with cleft palate are at higher risk for delayed or defected speech development [and should be] monitored by a speech pathologist throughout early childhood.” (CPF)
Darlene Oakley is a freelance writer for EmpowHER.com.
Related Links:
Sources:
Pierre Robin Sequence. Cleft Palate Foundation. Web. Mar 26, 2012.
http://www.cleftline.org/what-we-do/publications/fact-sheets/pierre-robin-sequence
Pierre Robin Syndrome. Medscape Reference. Web. Mar 26, 2012.
http://emedicine.medscape.com/article/844143-overview#aw2aab6b3
Pierre Robin Syndrome. PubMed Health U.S. National Library of Medicine. Web. Mar 26, 2012.
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002574
“A Guide to Understanding Pierre Robin Sequence”. Children’s Craniofacial Association. Web. Mar 26, 2012.
Comments