The syndrome of Pierre Robin

The syndrome of Pierre Robin, also known in medicine as Robin's anomaly, is a congenital pathology of the development of the jaw part of the face. Its name was received in honor of the French dentist P. Robin, who first described all its signs. Lannelongue and Menard first described the syndrome of Pierre Robin in 1891 in his report on the example of 2 patients with micrognathia, cleft palate and retroglossoptosis. In 1926, Pierre-Robin published a case of a disease in a baby with signs of a classic syndrome. Until 1974, the triad of symptoms was known as the Robin-Pierre syndrome. Nevertheless, this syndrome is now used to describe formation defects while multiple anomalies are present.

Epidemiology

It is a heterogeneous congenital defect that has a prevalence of 1 in 8,500 live births. The ratio of men to women is 1: 1, except for the X-chromosome form.

Among these patients, in 50% of infants the cleft in the soft palate is incomplete, the rest are born with an arcuate and unusually high sky, but without a cleft.

[1], [2], [3], [4], [5], [6], [7], [8], [9]

Causes of the the syndrome of Pierre Robin

The possibility of autosomal recessive inheritance of the disease is considered. There are two types of syndrome, depending on the etiology: isolated and genetically determined. Isolated species develops due to compression of the lower part of the jaw during embryonic development. Compression can develop due to:

1. The presence in the uterus of local seals (cysts, scars, tumors).
2. Multiple pregnancy.

Also, the development of the jaw in the fetus may be impaired when:

1. Viral infections that the future mother suffered during pregnancy.
2. Neurotrophic disorders.
3. Inadequate amounts of folic acid in the body of a pregnant woman.

[10], [11], [12], [13], [14]

Pathogenesis

The syndrome of Pierre Robin is manifested due to embryonic abnormalities, which are caused by a variety of pathology in the prenatal period.

There are three pathophysiological theories that can explain the appearance of Pierre Robin's syndrome.

Mechanical theory : This theory is the most probable. Underdevelopment of the mandibular apparatus occurs between the 7th and 11th weeks of pregnancy. High standing of the tongue in the oral cavity leads to the formation of clefts in the sky, because of this, there is no closing of the palatine plates. This theory explains the classic inverted U-shaped cleft and the absence of a hare lip associated with it. In the etiology, a role may play a role oligohydramnion, since the absence of an amniotic fluid can lead to deformation of the chin and the subsequent compression of the tongue between the palatine plates.

Neurological Theory : Delay in neurological development was noted in electromyography of the tongue of the tongue and pharyngeal columns, and taste due to conduction delay in the hyoid nerve.

Theory of Disney-Regulation of the Diamond-shaped Brain : This theory is based on the violation of the development of the rhomboid brain in the process of ontogenesis.

Insufficient development of the lower part of the child's jaw leads to the fact that the oral cavity is significantly reduced. This, in turn, causes the so-called pseudomacroglossia, that is, the tongue is displaced toward the posterior part of the pharyngeal wall. This pathology leads to the development of airway obstruction.

As long as the baby cries or moves, the patency of the airway remains normal, but once it falls asleep, obstruction arises again.

Due to respiratory disorders, the process of feeding a baby is very difficult. At this time, almost always there is an obstruction of the airway. If you do not apply a medical correction, then such a pathology can lead to a severe depletion of the whole organism and even to a fatal outcome.

[15], [16], [17], [18], [19], [20]

Symptoms of the the syndrome of Pierre Robin

The disease is characterized by three main signs:

1. The lower micrognathia (insufficient development of the lower part of the jaw, occurs in 91.7% of cases). It is characterized by retraction of the lower dental arch by 10-12 mm behind the upper arch. The lower jaw has a small body, an obtuse angle. The child attains normal development at about the age of 5-6 years.
2. Glossoptosis (the loss of language due to its inadequate development, is noted in 70-85% of cases).
3. Macroglossia and ankyloglossia are relatively rare signs, are noted in 10-15% of cases.
4. A cleft appears in the sky.

1. Bradypnea and dyspnoea.
2. Light cyanosis.
3. Asphyxia, which is most often manifested during attempts to feed the baby.
4. Swallowing is impossible or very difficult.
5. Desires for vomiting.
6. Auricular anomalies in 75% of cases.
7. Loss of hearing of a conductive nature occurs in 60% of patients, while atresia of the external auditory canal occurs in only 5% of patients, insufficient pneumatization of the mastoid cavity of the temporal bone.
8. Anomalies of the inner ear (aplasia of the side semicircular canals, a large vestibular aqueduct, loss of hair cells of the cochlea).
9. Nasal malformations are infrequent and are mainly represented by anomalies of the root of the nose.
10. Dental malformations occur in 30% of cases. Laryngomalacia and nebro-pharyngeal insufficiency are observed in approximately 10-15% of patients with Pierre Robin syndrome.

Systemic signs of the syndrome of Pierre Robin 

Systemic developmental abnormalities are described in 10-85% of reported cases.

Eye anomalies occur in 10-30% of patients. There may be: hyperopia, myopia, astigmatism, corneal sclerosis and stenosis of the nasolacrimal duct.

Cardiovascular pathologies: benign cardiac murmurs, pulmonary artery stenosis, open arterial duct, oval window, atrial septal defect and pulmonary hypertension. Their prevalence varies from 5-58%.

Anomalies associated with the musculoskeletal system (70-80% of cases): syndactyly, dysplastic phalanges, polydactyly, clinodactyly, joint hyperplasia and oligochtilia of the upper extremities. Anomalies in the development of the lower extremities: foot abnormalities (clubfoot, pallus adduction), femoral malformations (valgus or pelvis, short femurs), hip abnormalities (congenital dislocation, contractures), knee joint anomalies (GENU VALGUS, synchondrosis). Malformations of the spinal column: scoliosis, kyphosis, lordosis, vertebral dysplasia, agenesis of the sacrum and the adrenal sinus.

Pathology of the central nervous system: epilepsy, delayed development of the nervous system, hydrocephalus. The frequency of CNS defects is about 50%.

Genitourinary abnormalities: not lowered testes (25%), hydronephrosis (15%), and also dropsy testicles (10%).

Associated syndromes and conditions: Syndrome syndrome, trisomy 11q syndrome, trisomy 18, 4q removal syndrome, rheumatoid arthropathy, hypochondroplasia, Moebius syndrome.

Stages

There are three stages of severity of the disease, which depend on the state of the child's airways:

1. Easy - there are small problems with feeding, but breathing is almost not difficult. The treatment is carried out on an outpatient basis.
2. Medium - breathing is moderately difficult, feeding a child is moderately difficult. The treatment is carried out in a hospital.
3. Heavy breathing is very difficult, the baby can not be fed normally. It is necessary to use special devices (intranasal probe).

[21], [22], [23], [24]

Complications and consequences

The combination of micrognathia and glossoptosis can lead to severe respiratory complications and problems during the feeding of the child.

The syndrome of Pierre Robin causes the following complications:

1. Streezing respiration due to airway obstruction. Laryngomalacia or even asphyxia in a dream.
2. Psychomotor development of a child lags far behind peers.
3. Physical development also lags behind.
4. Speech in patients is broken.
5. Frequent infectious diseases of the ear, which become chronic and lead to hearing impairment.
6. The syndrome of obstructive sleep apnea, the onset of death in sleep varies in 14-91% of cases.
7. Problems with the teeth.

[25], [26], [27], [28], [29], [30]

Diagnostics of the the syndrome of Pierre Robin

Diagnosis of the syndrome of Pierre Robin does not cause difficulties. It is based on clinical manifestations. To exclude other pathologies, it is very important to consult a geneticist.

Children with a congenital anomaly Robin from birth busted due to the constant stagnation of the tongue. The baby is restlessly behaving, the skin is cyanotic, and inhaling from the chest croaks. During the feeding, suffocation may occur. The diagnosis can also be made according to the unusual appearance of the child - the "bird face". Often other patients develop other defects: myopia, cataract, pathology of the genitourinary system, pathology of the heart, anomalies in the development of the spine.

For these clinical manifestations, it is not difficult to put the right diagnosis to a specialist.

[31], [32], [33], [34], [35], [36]

Treatment of the the syndrome of Pierre Robin

Treatment is carried out immediately after the birth of a child with the syndrome of Pierre Robin. If the disease is mild, then to improve the patient's condition, it is necessary to constantly keep the child upright or lying on the tummy. The head of the baby should be tilted to the chest. In the process of feeding it is not recommended to keep the child in a horizontal position, so that the food does not get into the respiratory tract.

If insufficient development of the lower part of the jaw is expressed quite strongly, surgical intervention is used to bring the sinking tongue to a normal physiological position. In severe cases, the tongue is tightened and fixed on the lower lip. In very severe cases it is necessary to carry out tracheostomy, glossopexy, distraction osteogenesis of the lower jaw.

Conservative treatment is also used.

Medications

Phenobarbital. Sleeping and sedative drug, it differs anticonvulsant effect. In each tablet is 100 ml of phenobarbital. Dosage is individual, as it depends on the severity of the disease and the condition of the child. Patients with hepatic insufficiency, hyperkinesis, anemia, myasthenia gravis, porphyria, diabetes mellitus, depression, intolerance to the components of the drug is prohibited. When taking the following symptoms are possible: dizziness, asthenia, hallucinations, agranulocytosis, nausea, low blood pressure, allergies.

Clonazepam. A drug that is prescribed for the treatment of epilepsy. The drug contains the active substance clonazepam, which is a derivative of benzodiazepine. It differs anticonvulsant, anxiolytic and miorelaksiruyuschim effect. The dose is established by the attending physician, but should not exceed the maximum - 250 mcg per day. Do not take with insomnia, muscle hypertonia, psychomotor agitation, panic disorder. When taking the following symptoms are possible: retardation, nausea, dysmenorrhea, headache, leukopenia, delay or incontinence, alopecia, allergy.

Sibazon. Produced in the form of a solution and rectal tablets. The active substance is a benzodiazepine derivative (sibazone). It differs sedative, anxiolytic, anticonvulsant effect. The dosage is individual. Patients with chronic hypercapnia, myasthenia gravis, intolerance to benzodiazepines to take the drug is prohibited. When using the drug, it is possible to develop such symptoms: nausea, constipation, headache, dizziness, hiccups, urinary incontinence, allergies.

Cortexin is a lyophilizate. The drug with nootropic effect. The drug contains a complex of polypeptide fractions soluble in water and glycine. Dosage is individual and is prescribed by the attending physician in accordance with the patient's condition. Patients with intolerance to cortexin should not take the drug. The product may cause allergic reactions.

Physiotherapeutic treatment

As a rule, in the light stages of the syndrome, positional therapy is performed when the child is placed on the stomach in an upright position until gravity causes the lower part of the jaw to grow correctly.

Operative treatment

Operative treatment is used, first of all, to correct glossoptosis. There are several methods:

1. Support with a silver thread of the tongue. The thread is carried through the lower part of the gum and lower lip. The method is called Douglas.
2. Duhamel's method - a thick silver thread is carried through the base of the patient's tongue and two cheeks. Use no longer than thirty days.
3. Orthopedic devices for drawing and fixing the tongue.
4. At the age of one year, an operation to eliminate the cleft in the sky can be performed.

Prevention

The only way to prevent the syndrome of Pierre Robin is to eliminate possible negative factors in the prenatal period of fetal development, prenatal diagnosis.

[37], [38], [39], [40], [41], [42], [43]

Forecast

The prognosis and course of the disease are severe. Most often in the first days of life, with an average and severe stage of the disease, death occurs (the cause is asphyxiation). Also, the risk of a fatal outcome in the first year is quite high due to numerous infections.

In patients aged after two years - the forecast is favorable.

[44], [45]