The article presents the results of dynamic monitoring of a patient with Cornelia de Lange syndrome. The patient was born with archetypal facial features, multiple stigmas of dysembriogenesis, pre– and postnatal growth retardation and perinatal pathology of the brain in the form of spastic tetraparesis. Later, the child progressed with psychomotor development delay, hearing and vision disorders. Based on the conducted examination, consultations of specialists, including genetics, the diagnosis of «Cornelia de Lange syndrome» was established. To make this diagnosis, specific facial features in combination with additional criteria are sufficient.

Fibrous dysplasia is a rare anomaly of bone tissue development, in which it is replaced by fibrocystic tissue. A clinical case of a patient with a craniofacial polyossal form of fibrous dysplasia is presented. At the age of 13, a child had a constant intense headache, which was accompanied by dizziness, tinnitus, cognitive impairment, deformity of the frontal region and lower jaw on the right, local pigmentation in the neck and face (coffee-and-milk-like stains). Brain tomography and osteoscintigraphy visualized a volumetric formation in the right half of the skull bones, in which fibrotic dysplasia was revealed during histological examination.Conclusion. To establish this diagnosis, a combination of pain syndrome with deformation of the facial part of the skull and histological examination is important.

Atresia of the pulmonary artery with an intact interventricular septum is a rare critical heart disease (CHD) in which there is no communication between the right ventricle and the pulmonary artery and the life of a newborn depends on the functioning of the open arterial duct. The article presents a clinical observation of a child diagnosed in the first hours of life with Atresia of the pulmonary artery valve. Open arterial duct. Open oval window. Ductus-dependent pulmonary circulation. In the Cardiac Surgery Department, an operation was performed: open valvuloplasty of the pulmonary artery valve and creation of a systemic pulmonary anastomosis in modification. After discharge on the 18th day of life, the patient was under the supervision of a district pediatrician with regular monitoring of clinical and laboratory data and instrumental research methods (ECG, echocardiography, measurement of oxygen saturation) and consultation with a cardiologist and cardiac surgeon. At the age of 2 years 5 months radical surgery was performed: Plastic valve pulmonary artery, tricuspid valve plasty, plasty of the right branch of the pulmonary artery, the elimination of systemic-pulmonary anastomosis, plastic ASD in conditions of artificial circulation. The patient was discharged with recovery. Careful monitoring of the child’s health by a pediatrician, cardiologist and cardiac surgeon allowed preventing the occurrence of complications in the postoperative period and determining the optimal timing of anatomical radical correction of the defect, which led to full recovery and ensured the harmonious development of the girl.

Assessment of motor development is an important part of the study of the neuropsychic development of children, which is carried out by a pediatrician during preventive examinations. To identify the causes of motor disorders, in addition to studying the anamnesis, it is necessary to conduct a physical examination of the child with the appointment of additional research methods. It is important to remember that developmental delay does not always indicate the presence of any disease but requires dynamic monitoring. However, if they progress, then these patients are more likely to be diagnosed with specific neuromuscular disorders. In this case, the pediatrician should pay attention to the neurological status of the child, assess visual acuity and hearing. At the same time, one should not forget that motor disorders are often combined with a general developmental delay (mental retardation) of the child. Fasciculation of the tongue, loss of motor skills, organomegaly, coarsening of facial features, increased levels of creatine phosphokinase (more than 3 times higher than normal), respiratory failure, in the presence of general weakness, a sharp deterioration in the child’s condition, accompanied by lethargy, vomiting, development of convulsive syndrome, disorders detected on MRI of the brain, are alarming symptoms that require urgent intervention by specialists (neurologist, genetics). Also, some hereditary (chromosomal and monogenic) diseases are often combined with the development of motor disorders. The best results are achieved if the early diagnosis of diseases accompanied by movement disorders is carried out using an interdisciplinary approach.

The diagnosis of genetic disorders is always difficult. Early detection of Angelman syndrome is complicated by the similarity of its clinical manifestations with other diseases. The purpose of the study was to describe the clinical manifestations in children with Angelman syndrome in order to identify early and characteristic clinical signs. In the study of patients, it was revealed that the hereditary history was aggravated in one patient, the obstetric history — in all women. Clinical manifestations debuted in children at an early age, only in one patient from birth. In all children, changes were recorded on the electroencephalogram and magnetic resonance imaging of the brain. The patients were consulted by a geneticist. Awareness of the medical community contributes to the timely detection of signs of the disease and the establishment of a diagnosis. The sooner the diagnosis is established, the higher the chances of providing the patient with effective care.