Pierre Robin's syndrome is a pathology of the development of the fetus in the womb. The baby is diagnosed with hypoplasia of the lower jaw, which is accompanied by the presence of an arched palate with a cleft and airway obstruction. Deviation is observed in one child among 30 thousand newborns.
What is this disease?
The disease does not have racial or social affiliation. He suffers from both poor people who do not have proper medical care, and wealthy well-known people. There are several characteristics associated with Pierre Robin syndrome. First of all, for children who are sick, a very small lower jaw is characteristic. If its dimensions are close to standard, then it can be strongly shifted back: the angle of the base of the skull is very large and does not correspond to the norm. In this case, the palate is too curved in the form of an arc, and the tongue is closer to the upper back of the pharynx.
The syndrome was named after the great famous dental surgeon Pierre Robin. A medic was born in 1867, died in 1950. For almost a hundred years of his life, he managed to work as an editor of the journal “Dental Review”, write a dissertation on the development of teeth and the role of chewing in this process, and become an author of popular scientific works on orthodontics. It was he who discovered the syndrome, the main signs of which are such anatomical features: a baby's very small head, a small cut chin, and an irregular tongue structure. It is difficult for a child to breathe, chew and swallow. If the brain is damaged, it may experience
mental retardation. Also, such children are poorly developed in physical terms.
Key risk factors
Pierre Robin's syndrome is isolated. In other cases, it is part of a genetic abnormality. The trigger lever of the first variety of the disease is the compression of the jaw in the embryo. Its development provokes a multiple pregnancy or a small local seal in the female uterus in the form of a scar, tumor, cyst, fibrosis. In addition, a slowdown in the growth of the lower jaw in the fetus provokes a viral infection in the mother in the first trimester of pregnancy, a lack of vitamin B9 in her body, or neurotrophic disorders.
As for the genetically determined Pierre Robin syndrome, it is an autosomal dominant type. Often this pathology is accompanied by other disorders. For example, a third of all cases fall into Stickler's syndrome, in which the deviation described by Pierre Robin is developed, and pronounced arthritis and myopia are also observed. If the parents of the first baby were born with an isolated type of pathology, then the probability of having a second sick child is 1–5%. With the genetic form, the risk increases significantly.
Pathology formation
To understand the essence of the deviation, you need to know how and why the fetus develops Pierre-Robin syndrome. The reasons, doctors say, have a direct and immediate relationship with the etymological factor at the embryonic level. It is known that at the 5th week of the development of the baby in the womb, he begins the process of formation of a hard palate due to the fusion of medial protrusions, which simultaneously form the upper lip and nostrils. If a disturbance occurs at this stage, the palate and lip bifurcate. From the 5th week, a secondary palate begins to form from the lateral celestial processes. In parallel, the lengthening of the face is completed, which increases the space for the development of oral structures. The tongue falls into place, and the celestial processes close like a zipper.
With Pierre Robin syndrome, the lower jaw is very small. Because of this, the tongue has nowhere to sit and it moves to the back wall. Located above the normal level, it blocks the connection of the celestial processes. This, in turn, leads to the fact that the soft palate does not close completely, forming an arched shape.
Pathogenesis
In order to have a full informative idea of the disease, you need to view pictures of children with Pierre Robin syndrome. Photos of these babies are different from images of ordinary children. Deviation often disfigures the appearance of the child: he has too small an oral cavity, an underdeveloped lower part of his face and retrognathia - the back position of the upper or lower jaw in the skull. The language is strongly biased: glossoptosis occurs.
The baby constantly has obstruction of the airways - the so-called obstruction.
It’s hard for a baby to breathe. His condition improves only during physical activity or crying, after which obstruction occurs again. Various respiratory disorders make it difficult to feed the baby, so it often stops eating to cry reflexively and release the airways. As a result, the baby is gaining weight poorly, he is weak and lethargic. If you do not take action, a defective cycle will quickly lead to the depletion of a small organism, the complete cessation of the functioning of several systems and even the death of the child.
Degrees of illness
Pierre Robin's syndrome has several forms that differ in the severity of the disease:
- Light form. The baby experiences minor difficulties and inconveniences during feeding. His breath is not labored. In this case, the doctor prescribes conservative therapy, which is positional and is performed on an outpatient basis.
- Moderate severity. When eating, the baby feels moderate difficulty with chewing and swallowing. It is difficult for him to breathe, but the situation is not critical. Typically, such a child is hospitalized in a hospital where they are prescribed positional treatment and glossopexy is performed - pulling the tongue and fixing it to the lower lip.
- Severe form. It’s very difficult and even painful for a little one to eat food and breathe. In this situation, urgent measures are required - surgical intervention. Sometimes it is recommended to introduce an internal probe for feeding and perform a tracheostomy - dissection of the trachea and insertion of a tube into it.
For any severity of the disease, you need the advice of an experienced specialist. Self-medication can harm a baby, lead to serious irreversible consequences.
Complications
It is not difficult to diagnose a sick baby. But for an accurate formulation, consultation with an experienced geneticist and orthodontist is necessary. Together with other doctors, they will recommend this or that treatment to avoid serious consequences. In this case, complications can be very different: asphyxiation during sleep, development of laryngeal defect, the appearance of noisy, hoarse breathing. The onset and progression of heart disease also provokes Pierre Robin syndrome: consequences of this nature are observed in 14% of babies.
A child suffering from this pathology eats very poorly. The negative pressure required during breastfeeding, palatal cleft does not allow to create. In addition, such a baby has a very small lower jaw, which prevents it from contracting the circular muscles of the mouth and grasping the mother’s chest tightly. When feeding, the peanut may even suffocate, as the cleft palate strongly separates the nasal and oral spaces, increasing the risk of suffocation. Among complications, doctors also call tooth deformation,
malocclusion, chronic ear inflammation, which can lead to complete deafness, and also lag in physical and mental development.
Conservative treatment
Applying for qualified medical help in time, parents have good chances to eliminate Pierre Robin's syndrome. Treatment can be conservative. Firstly, the baby is under constant supervision by a geneticist, otolaryngologist, ophthalmologist, orthodontist, dentist and speech therapist. Secondly, the child is regulated by the feeding process and try to eliminate the obstruction of the upper respiratory tract. If you follow all the recommendations, then by the age of 6 in most children the size and shape of the lower jaw are gradually normalizing.
A very effective method of conservative treatment is positional therapy. It implies laying the baby on the stomach until the necessary increase in the lower jaw occurs. In infancy, the baby should always be in this position. When a child grows up, adults need to teach him to sleep exclusively in a similar position. If the toddler lies on his stomach, he creates pressure in the head: under the force of gravity, the tongue shifts and falls into place. Such therapy helps in 80% of cases.
Surgical intervention
It is necessary for severe and moderate forms of the disease. Pierre Robin's Syndrome can be partially eradicated by promptly pulling up the tongue and fixing it in the lower lip area. A procedure called glossopexy is simple and non-hazardous. Also, the baby can pierce the trachea and insert a tube into the hole: thanks to this, he can breathe easily and without problems. Close this hole at about 3 years old. The method is rarely used, it needs about 1% of children with a disease of severe complexity.
Doctors may prescribe compression-distraction osteosynthesis. The procedure involves making clippings in the bones of the lower jaw. The pins are inserted into them, which are attached to the head and, using a special mechanism, expand and increase the jaw. Strengthening the action of the device daily, the doctor achieves a slow but effective lengthening of the lower face. A similar traction is carried out for a month, after which they take a break for 8 weeks. It is necessary for the normal healing of the bone and its reliable fixation in the new formation.
Useful Tips
Children with Pierre Robin syndrome require some changes to the feeding process. Firstly, they need to increase the calorie content of milk: for this purpose, breast milk is decanted and mixed with artificial milk. Secondly, during feeding, it is often necessary to take breaks to give the baby the opportunity to catch his breath and to clear the airways with crying and regurgitation. In addition, if the mother strokes the chin of a pean, it greatly helps him absorb milk.
Thirdly, such children need to buy a special bottle developed by specialists for feeding babies with the syndrome. The hole in it is much wider than in a conventional nipple, in addition, there is a special valve installed, allowing the parent to control the flow of milk. Special soothers have been developed for babies. Fourth, doctors can recommend the establishment of an obturator in the mouth, which closes the cleft. At the same time, do not forget that none of the above methods is a treatment method. These are just devices that accelerate the effectiveness of therapy and ease the condition of your little one.