The syndrome of Pierre Robin: photo, causes, treatment, consequences. Famous people with the syndrome of Pierre Robin

The syndrome of Pierre Robin is a pathology of fetal development in the womb. The baby is diagnosed with a hypoplasia of the lower jaw, which is accompanied by the presence of an arch-shaped 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 a racial or social affiliation. They are sick like the poor, who do not have the proper medical care, and the rich famous people. With Pierre Robin's syndrome several features are connected. First of all, for children who are sick with them, a very small lower jaw is characteristic. If its dimensions are close to the standard, then it can be strongly displaced back: the angle of the base of the skull is very large and does not correspond to the norm. In this case, the palate has a very arched shape in the form of an arc, and the tongue is located closer to the upper posterior part of the pharynx.

The syndrome was named after the great famous dental surgeon Pierre Robin. 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 magazine "Dental Review", write a dissertation on the development of teeth and the role of chewing in this process, to become the author of popular scientific works on orthodontics. It was he who discovered the syndrome, the main features of which are such anatomical features: a very small head for a baby, a small chopped chin and an incorrect structure of the tongue. The child can hardly breathe, chew and swallow. If the brain is damaged, mental retardation can occur . Also, such children are poorly developed in physical terms.

Main Risk Factors

The syndrome of Pierre Robin is isolated. In other cases, it is part of the genetic variation. The trigger of the first form of the disease is the compression of the jaw in the embryo. Its development provokes a multiple pregnancy or a small local compaction in the womb in the form of a scar, a tumor, a cyst, fibrosis. In addition, the slowing of the growth of the mandible in the fetus provokes a viral infection in the mother in the first trimester of pregnancy, lack of vitamin B9 in her body or neurotrophic disorders.

As for the genetically conditioned syndrome of Pierre Robin, he is an autosomal dominant type. Often this pathology is accompanied by other disorders. For example, a third of all cases fall on the syndrome of the Stickler, in which the deviation described by Pierre Robin is developed, as well as pronounced arthritis and myopia. If the first child was born with an isolated type of pathology in the parents, the probability of the birth of the second sick child is 1-5%. At the genetic form the risk essentially increases.

Formation of pathology

To understand the essence of the deviation, it is necessary to know how and why the fetus develops Pierre Robin's syndrome. Causes, the doctors say, have a direct and direct connection with the etymological factor at the embryonic level. It is known that at the 5th week of development of the baby in the womb, he begins the process of forming a solid palate due to the fusion of medial protuberances, which simultaneously form the upper lip and nostrils. If at this stage there is a violation, the palate and lip split. As early as 5 weeks, a secondary palate from the lateral celestial processes begins to form. Parallel extension of the face, which increases the space for the development of oral structures. The tongue descends to its place, and the celestial processes close like a zipper.

With the syndrome of Pierre Robin, the lower jaw is very small. Because of this, the language has nowhere to accommodate and it shifts 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 closes not to the end, forming an arcuate outline.

Pathogenesis

In order to have a full informative idea about the disease, you need to see pictures of children with Pierre Robin syndrome. Photos of these kids are different from the images of ordinary children. Deviation often disfigures the appearance of the child: it has too small oral cavity, underdeveloped lower face and retrognathia - posterior position of the upper or lower jaw in the skull. The language is strongly biased: glossoptosis occurs.

The baby is constantly observed obstruction of the airways - the so-called obstruction. The baby can hardly breathe. His condition improves only during physical activity or crying, after them the obstruction arises again. Various respiratory disorders make it difficult for the baby to feed, so it often stops eating to reflexively cry and release the airways. As a result, the baby is not gaining weight badly, he is weak and sluggish. If you do not take action, a defective cycle will quickly lead to the exhaustion of a small organism, the complete cessation of the functioning of several systems and even the death of a child.

Degrees of disease

The syndrome of Pierre Robin has several forms, which differ in the severity of the disease:

• Light form. The child experiences minor difficulties and inconveniences during feeding. His breathing is not difficult. In this case, the doctor prescribes conservative therapy, which is positional and is performed on an outpatient basis.
• The average severity. During eating, the toddler feels moderate difficulties with chewing and swallowing. It is difficult for him to breathe, but the situation is uncritical. Usually such a child is hospitalized in the hospital, where he is prescribed positional treatment and carries out glossopexy - tightening the tongue and fixing it to the lower lip.
• Heavy form. Karapuzu is very difficult and even painful to eat and breathe. In this situation urgent measures are required - surgical intervention. Sometimes it is recommended to feed an internal probe for feeding and conduct tracheostomy - dissection of the trachea and insertion of a tube into it.

At any degree of severity of the disease, consultation of an experienced specialist is necessary. Self-medication can harm a baby, lead to severe irreversible consequences.

Complications

It is not difficult to diagnose a sick child. But for an accurate formulation it is necessary to consult an experienced geneticist and orthodontist. Together with other doctors they will recommend this or that treatment in order to avoid serious consequences. In this case, complications can be very different: strangulation during sleep, development of the larynx malformation, the appearance of noisy, hoarse breathing. The onset and progression of heart disease also provokes Pierre Robin's syndrome: consequences of this nature are observed in 14% of babies.

A child suffering from this pathology, very poorly eats. The negative pressure needed during breastfeeding, the palatine crevice does not allow to create. In addition, such a baby has a very small lower jaw, which does not allow him to properly contract the circular muscles of the mouth and firmly grasp the mother's breast. At feeding, the frog can even suffocate, since the palatine cleft greatly separates the nasal and oral space, increasing the risk of suffocation. Among complications, doctors also refer to deformities of the teeth, incorrect bite, chronic ear inflammation, which can lead to complete deafness, and a lag in physical and mental development.

Conservative treatment

In time applying for qualified medical care, parents have a good chance to eliminate the syndrome of Pierre Robin. Treatment can be conservative. First, the baby is under constant supervision of a geneticist, an otolaryngologist, an ophthalmologist, an orthodontist, a dentist and a speech therapist. Secondly, the child is regulated by the process of feeding and tries to eliminate the obstruction of the upper respiratory tract. If you adhere to all the recommendations, then by the age of 6 in most children the size and shape of the lower jaw gradually normalize.

Positive therapy is a very effective method of conservative treatment. It involves 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 be taught to sleep only in a similar position. If the baby lies on the stomach, it creates pressure in the head: under the force of gravity, the tongue shifts and becomes in place. Such therapy helps in 80% of cases.

Surgical intervention

It is necessary for severe and moderate forms of the disease. The syndrome of Pierre Robin can be partially eliminated by operatively tightening the tongue and fixing it in the area of the lower lip. The procedure, called glossopexy, is simple and not dangerous. Also, the toddler can pierce the trachea and insert a tube into the opening: thanks to this, he can easily and without problems breathe. Close this hole in about 3 years. The method is rarely used, it needs about 1% of children who have a serious degree of difficulty.

Physicians can prescribe compression-distraction osteosynthesis. The procedure involves making cuttings in the bones of the lower jaw. They are inserted pins, which are attached to the head and using a special mechanism to expand and increase the jaw. Daily strengthening the action of the device, the doctor achieves a slow, but effective lengthening of the lower facial part. This stretching is carried out for a month, after which they take a break for 8 weeks. It is necessary for normal bone healing and its reliable fixation in a new formation.

Useful recommendations

Children with Pierre Robin syndrome require some changes in the feeding process. First, they need to increase the calorie content of milk: for this purpose, the breast is expressed and mixed with artificial milk. Secondly, during feeding, it is often necessary to take breaks to give the baby an opportunity to catch his breath and, with the help of crying and regurgitation, clean the respiratory tract. In addition, if the mother strokes the chin of a young child, it greatly helps him absorb milk.

Thirdly, these 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 normal nipple, in addition, there is a special valve, which allows the parent to control the flow of milk. For babies, special pacifiers have been developed. Fourthly, physicians can recommend the establishment in the oral cavity of the carcase of the obturator, which closes the cleft. In this case, do not forget that none of the above methods is not a method of treatment. These are just adaptations that accelerate the effectiveness of therapy and ease the state of your baby.