What Is Pierre Robin Sequence?
There are many names for this condition, such as the Pierre Robin sequence (PRS) and Pierre Robin complex. With this condition, babies are born with a small lower jaw (micrognathia), a fallen back tongue, which makes an obstructive airway, and a cleft palate. With the smaller jaw size, the tongue formation is usually a little further than the normal position. As a result, while sleeping, there are chances of airway blockage and difficulty in feeding. Because of this, some babies have difficulties in weight gain and getting nutrition. It is called a sequence due to one of its classic signs: an underdeveloped lower jaw starts showing during 4utero fetus development.
Sometimes other syndromes are also associated with it, or there are chances that the Pierre robin sequence has the symptoms that are part of other syndromes-like Stickler syndrome or campomelic dysplasia. According to MedlinePlus, the Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people.
What Are the Causes of the Pierre Robin Sequence?
There are a few causes affecting this developmental disorder, such as:
-
Even though the exact cause of the syndrome is unknown, some research studies show that the reason behind this condition is a change in DNA named SOX9. Skeletal development in the fetus is supported by the SOX9 protein generated by SOX9 genes. In the affected individuals, there are damages in the DNA regions noted. As a result of DNA damage, SOX9 activity is also reduced. This also affects the craniofacial development of the fetus.
-
Moreover, some studies suggest that non-genetic conditions cause the syndrome too. For instance, during pregnancy, some conditions cause an interruption in the gestation development of the fetus, which in turn causes developmental defects in newborns. All of these changes are believed to have occurred during a series of continuous defects. There is not a single stage defect found to be the cause behind this syndrome. For example, abnormal jaw development during the developmental phase affects the position of the tongue in the mouth. It is positioned backward, high in the oral cavity, which interrupts the development of the palate, causing a cleft.
-
In the present scenario, there are research studies suggesting genetic changes in the fetus. There are no inheritance factors associated with this condition found. On the other hand, in some rare cases, few are found to be affected by the autosomal recessive mode of inheritance. Autosomal dominant genetic disorders are the result of a single copy of the abnormal gene inherited from either of the biological parents. The risk of passing on this trait is 50 %, equally in males and females.
What Are the Signs and Symptoms of Pierre Robin Sequence?
There are some external signs that can be seen in babies with Perrier Robin syndrome, such as:
-
Cleft palate.
-
Small lower jaw with a small chin.
-
Tongue larger than the jaw.
-
High-arched palate.
-
Breathing style and sound.
-
Difficulties in eating.
-
Frequently choking while feeding.
-
Natal teeth (teeth that are present at birth).
-
Difficulty in speaking.
Along with these symptoms, there are some internal signs that can be seen during a doctor’s checkup, such as:
-
Hearing problem.
-
Recurrent ear infections.
-
Respiratory problems.
-
Food reflux from the nose and mouth due to a small opening at the palate.
How to Diagnose Pierre Robin Sequence?
-
During an ultrasound examination, there are chances of diagnosing this condition early, as it might show a severely underdeveloped jaw of an unborn child.
-
Additionally, after birth, a physical examination can also rule out symptoms like cleft palate, small jaw, and larger tongue.
-
Moreover, computed tomography (CT scan), a sleep study, an ENT specialist’s examination, or a genetic evaluation can help evaluate the syndrome at a later age.
What Are the Differential Diagnosis of Pierre Robin Sequence?
Following are the differential diagnosis of Pierre robin syndrome:
-
Velocardiofacial Syndrome: It is a birth defect associated with abnormal development of parathyroid glands and pharyngeal arch.
-
Digeorge Syndrome: It is also known as 22q11.2 deletion syndrome caused by particular deletion of chromosome 22. A child affected with this syndrome has blood calcium deficiency along with mental and physical developmental delay.
-
Stickler Syndrome: It is a genetic disorder affecting joints, hearing, and vision.
-
Treacher Collins Syndrome: It is a genetic disorder causing abnormality of craniofacial bones.
-
Charge Syndrome: It is a disorder causing abnormality related to balance and hearing along with other abnormalities.
-
Fetal Alcohol Syndrome: It is an abnormality related to the brain and development of the fetus due to alcohol consumption in the mother during pregnancy.
-
Pediatric Cleft Lip and Palate: It is a gap or split at the roof of the mouth or lip, causing difficulties related to swallowing and speech.
- Childhood Sleep Apnea: Due to enlarged tonsils and adenoids, children have difficulty in breathing; it is called childhood sleep apnea.
How to Manage Pierre Robin Sequence?
-
Depending on the severity of the condition, the doctors usually go with the treatment plan.
-
For a child with an unusually large tongue and small jaw size, there are chances of choking during sleep as the tongue might fall further down the throat. The treatment plan for these children is to change their sleeping position from supine to sleeping on their belly, also known as prone positioning, as it prevents the tongue from obstructing the airway.
-
In moderate cases with the condition, it is suggested the tube (nasogastric tube) be inserted through the nose to the throat to avoid choking. Food in liquid form should be fed carefully with this tube. Newborns with this condition usually need special feeding bottles or extra supplements and formula for nutrition.
-
In severe cases like cleft palate, surgery is the last option. It is a two to three hours long procedure that is usually done in a child aged ten months or older when they start to speak.
-
After the surgery, speech therapy might be required in some cases. Furthermore, in cases with a severely retruded mandible (lower jaw), there are chances that cleft palate surgery is not an option.
-
Other surgeries that are suggested by doctors for severe cases are tracheostomy, mandibular distraction, and tongue-lip adhesion.
-
Observation of nutrition and a balanced diet is also another thing that requires attention. By regularly monitoring vitals and nutrition levels, supplements and baby formulas are prescribed.
What Are the Complications Associated With Pierre Robin Sequence?
There are some complications related to severe conditions:
-
Pulmonary hypertension.
-
Difficulties in weight gain.
-
Repetitive choking during feeding.
-
Low blood pressure.
-
Hearing problem.
-
Brain damage.
-
Death.
Conclusion:
Managing any severe condition like this in pediatric patients is an overwhelming task for parents and doctors, especially the condition with unknown causes. However, the Perrier Robin sequence has symptoms like cleft palate that can be treated with surgery if detected at an early age.
