Micrognathia syndrome in children

Introduction to pediatric small jaw deformity syndrome Micrognathiasyndrome (micrognathiasyndrome) is also known as cleft palate - small jaw deformity - hypoglossal syndrome, small mandibular - hypoglossal syndrome, small jaw and big tongue malformation syndrome, inspiratory airway obstruction syndrome, Robin syndrome, Pierre-Robin syndrome, etc. The condition is characterized by congenital small jaw deformity, lingual lingual, cleft palate and inspiratory airway obstruction in neonates, and the respiratory tract obstruction caused by this symptom causes death, and the incidence is high. basic knowledge The proportion of illness: 0.004% - 0.005% Susceptible people: infants and young children Mode of infection: non-infectious Complications: aspiration pneumonia, atelectasis, pulmonary hypertension, pulmonary heart disease, malnutrition

The cause of small jaw deformity syndrome in children

Cause:

Small jaw deformity is generally thought to occur in the first 4 months of the embryo, caused by interference suppression in the center of the mandibular condyle, and malnutrition during pregnancy, certain drugs during pregnancy, radiation and certain toxin poisoning can be induced All kinds of malformations, including cleft palate and tongue sag triad, Douglas observed that if you can get adequate nutrition after birth, the small jaw deformity can develop to near normal within 6-8 months. However, the real cause of this disease is still unclear. There is no sufficient evidence for genetic factors. It is clear that this malformation is associated with intravital megacytoplasmic inclusion virus infection. From the 4th week of pregnancy to the end of pregnancy, the infection of the virus can occur, and the infected primipara is young. Most of the patients, the clinical signs of the mother can not be obvious, the virus infected the fetus through the placenta, the more the infection occurs in the early pregnancy, the more severe the fetal involvement.

Prevention of small jaw deformity syndrome in children

According to the prevention methods of congenital diseases, preventive measures and other birth defects diseases, in order to reduce and reverse the incidence of birth defects, prevention should be from pre-pregnancy to prenatal:

1. Premarital medical examination: The role of prevention in the prevention of birth defects depends on the examination items and content, mainly including serological examination (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system examination (such as screening for cervical inflammation) ), general physical examination (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

2. Pregnant women should avoid harmful factors as far as possible: including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc., in the process of antenatal care during pregnancy, systematic screening of birth defects is required. Including regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.

Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; whether the fetus is safe in the uterus, whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.

Complications of small jaw deformity syndrome in children Complications, aspiration pneumonia, atelectasis, pulmonary hypertension, pulmonary heart disease, malnutrition

Lead to aspiration pneumonia or atelectasis, inspiratory wheezing, pulmonary hypertension and pulmonary heart disease due to upper airway obstruction, often feeding difficulties, malnutrition, slow growth, easy to concurrent otitis media.

Symptoms of pediatric small jaw deformity syndrome Common symptoms Lung insufficiency slow growth ribs and sternal suction... Tongue drooping sputum tip and refers to the wind atrial circumflex atrial septal defect patent ductus arteriosus

Bird-like face

This symptom has a typical "bird-like face" with a small jaw.

Cleft palate

The incidence of cleft palate is about 50% to 68%.

3. The tongue is drooping

The hypoglossal airway is blocked. Under normal circumstances, the tongue root depends on the traction support of the mandibular ligament combined with the mandibular condyle. Therefore, it can be in the anterior position. When the small jaw is deformed, the tongue root loses support and the sag occurs. The oropharyngeal gorge shrinks and is blocked. Cause airway obstruction, due to airway obstruction, breast-feeding disorders, children can make a modern replenishment to enhance the inspiratory action and sucking force, so that the hypopharynx, the negative pressure in the chest esophagus increases, forcing the tongue root to sag further, and A large amount of air into the stomach can cause nausea, and the volume of vomit is inhaled into the lower respiratory tract, leading to aspiration pneumonia or atelectasis. The degree of obstruction of the respiratory tract can vary greatly. The mild disease is only in the supine position. It sounds, and when it is awake or crying, the airway is basically smooth: the breathing is blocked and there is no sound, and the wheezing sound is different from the laryngeal origin.

4. Cardiovascular disease

About 20% of cases with cardiovascular malformations, such as patent ductus arteriosus, atrial septal defect, aortic coarctation, right heart, etc., can cause pulmonary hypertension and pulmonary heart disease due to upper airway obstruction.

5. Other

The symptoms may be accompanied by eye defects, skeletal deformities, auricular malformations, middle ear, abnormal structure of the inner ear, deafness, hypertrophy, congenital heart disease and mental retardation.

Typically, inhalation of respiratory infarction from birth, sometimes accompanied by laryngeal wheezing, cyanosis, ribs and inferior inferior sag of the sternum, due to mandibular dysplasia and cleft palate, and large occlusion of the tongue, and Due to the backward sag, the symptoms are even worse in the supine position. These children often have difficulty in feeding, are not easy to suck and swallow, and are prone to cough, resulting in malnutrition, weight loss, and slow growth.

Due to chapped, food is easy to break into the trachea and eustachian tube, so it is easy to have aspiration pneumonia and otitis media.

Examination of pediatric small jaw deformity syndrome

Peripheral blood leukocyte counts and neutrophils were significantly increased in concurrent infections; PaO2 decreased in PaO2 during hypoxemia.

According to the clinical selection of X-ray chest X-ray, echocardiography, electrocardiogram and other examinations.

Diagnosis and diagnosis of small jaw deformity syndrome in children

According to clinical manifestations, and features such as less jaw deformity, tongue root unhealed, inspiratory airway obstruction and other phases can be diagnosed. Clinical should be differentiated from tracheal foreign body and nasal polyps. In neonates, infants with congenital small jaw deformity, tongue drooping, cleft palate and inspiratory airway obstruction, the respiratory tract obstruction caused by this disease caused death, the incidence is higher. Symptoms vary in severity, lighter can suck on their own, no difficulty breathing when lying down, and severe nasal feeding and endotracheal intubation. The patient has small mandibular deformity, tongue root fall, high zygomatic arch, difficulty breathing, and feeding difficulties, breathing difficulties can be improved in the prone position, so the diagnosis is clear.

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