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.

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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.

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.