Pierre Robin sequence is condition of facial defects that are present from birth. It is considered as a sequence because it entails some developmental malformations, one involving the next. The exact cause of the abnormality is not known, but it is believed that genetic anomalies of certain chromosomes are the cause.
The condition is often referred to as Pierre Robin Malformation. The doctors can easily identify the presence of Pierre Robin sequence after birth. The rate of incidence of the disorder is 1 in every 8500 to 30,000 births.
Once a doctor diagnoses the condition in a child, then the parent needs to consult a geneticist to rule out the possibilities of other disorders that accompany the condition. In case, there is presence of other syndromes, then medical attention will be needed to correct those conditions as well.
Symptoms of Pierre Robin syndrome
Some of the abnormal facial characteristics and symptoms associated with Pierre robin sequence are as follows:
- An abnormally tiny mandible or lower jaw with a tapering chin
- The jaw may also be receded far back into the throat
- The palate may be high arched
- The baby may have natal teeth or be born with teeth
- Obstruction of the upper airways
- Retraction or posterior dislodgment of the tongue. It may also in size when compared to the jaw
- Presence of cleft palate which is generally U-shaped. The roof of the mouth may not be completely closed.
- Repetitive infections of the ear
Some of the complications associated with the disorder include:
- The affected child may experience feeding and breathing problems. The child would need help with feeding. The child will usually be in the tummy down position, so that the tongue comes forward to open up the airway.
- The affected babies may not be able to intake enough calories necessary for growth. Hence they may sometimes need to be fed with the aid of a nasogastric tube. Also, since breathing is actually cumbersome, it becomes an exercise in itself which leads to use of calories. In severe cases of Pierre Robin sequence, a nasopharyngeal tube may be inserted to free up the airways
- Since a majority of babies with Pierre Robin sequence have Stickler syndrome, the parents need to consult an eye doctor to check for eye abnormalities
Causes of Pierre Robin
- The exact reasons for the occurrence of Pierre robin sequence are not known. As per certain theories, it is thought that during some of the stages of bone formation in the fetus, the tip of the jaw gets entangled at the meeting point of each of the collar bones, i.e. the sternum. This restricts the jaw bones from developing.
- It is believed that during the period of around 12 to 14 weeks of gestation, when the developing fetus starts to move, the movements of the head result in displacement of the jaw. The fetus then tends to grow normally till the time of birth. However, the dislodgement of the jaw means that the baby is born with an unusually small jaw, as compared to other babies without the disorder. However, it should also be note that the jaw continues to grow after birth at a normal rate, till it attains maturity.
- It is understood that Pierre Robin Sequence is often a part of another underlying syndrome or disorder. Stickler syndrome is the most common disorder that accompanies Pierre robin syndrome. Other underlying conditions may include Fetal Alcohol Syndrome, Velocardiofacial syndrome and Treacher Collins syndrome
Treatment of Pierre Robin syndrome
The treatment of Pierre Robin sequence is aimed at treating the various symptoms and complications.
- Feeding and breathing problems are the main concerns with a child affected by the disorder. Various measures as discussed above may be taken to resolve the breathing and feeding issues as well as to provide the necessary nutritional supplements to continue the growth and development of the child.
- Gastroesophageal reflux is common in infants with Pierre Robin sequence. This can worsen the symptoms of the condition and pose breathing difficulties. One may minimize the effects of GER by the use of medications; prevent increases cases of vomiting by frequent and small feedings and by positioning the affected child in an upright pose on a wedge
- The small size of the lower jaw can be corrected via distraction osteogenesis which results in enlargement of one or both the jaws. This can lead to forward movement of the tongue, which in turn ceases the airway obstruction
- The cleft palate can be correct via surgery. The doctors look into individual cases and treat the abnormality as per the requirement of the patient
Most cases of Pierre Robin syndrome can be successfully treated and almost all children grow up to be healthy adults. Feeding issues are generally resolved during infancy. The affected children however may not attain full development and growth potential due to chronic hypoxia that affects them as a result of airways obstruction.
Pierre Robin Syndrome Pictures