Diseases of children (pediatrics)

Noonan syndrome: causes, symptoms, diagnosis, treatment

Noonan syndrome is named after the author who described this disease in 1963. Newborns have growth retardation (length at birth is 48 cm) with normal body weight. Congenital heart defects (valvular stenosis of the pulmonary artery, ventricular septal defect), cryptorchidism in boys in 60% of cases, combined deformation of the chest are diagnosed from birth.

Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder characterized by excessively rapid growth in early childhood, asymmetry of body development, an increased risk of developing cancer and some birth defects, and behavioral problems in the child.

Shereshevsky-Turner syndrome.

Turner syndrome (Shereshevsky-Turner syndrome, Bonnevie-Ulrich syndrome, Syndrome 45, X0) is a consequence of the complete or partial absence of one of the two sex chromosomes, phenotypically determined female sex. The diagnosis is based on clinical manifestations and confirmed by karyotype examination.

Lejeune syndrome (chromosome 5 short arm deletion syndrome): causes, symptoms, diagnosis, treatment

Epidemiology of Lejeune syndrome. Population frequency is unknown. No more than 1% of patients with profound mental retardation have a 5p- deletion.

Wolf-Hirschhorn syndrome (chromosome 4 short arm deletion syndrome): causes, symptoms, diagnosis, treatment

Wolf-Hirschhorn syndrome has been described in more than 150 publications.

Edwards syndrome (chromosome 18 trisomy syndrome): causes, symptoms, diagnosis, treatment

Edwards syndrome (trisomy 18, trisomy 18) is caused by an extra chromosome 18 and typically involves low intelligence, low birth weight, and multiple birth defects, including severe microcephaly, prominent occiput, low-set, malformed ears, and characteristic facial features.

Patau syndrome (chromosome 13 trisomy syndrome)

Patau syndrome (trisomy 13) occurs when there is an extra chromosome 13 and includes malformations of the forebrain, face, and eyes; severe mental retardation; and low birth weight.

Down syndrome

Down syndrome is the most frequently diagnosed chromosomal syndrome. It was clinically described by Down in 1866 and karyotypically identified in 1959.

Eating disorders in children: causes, symptoms, diagnosis, treatment

Nutritional disorders are pathological conditions that develop as a result of insufficient or excessive intake and/or absorption of nutrients. Nutritional disorders are characterized by disruption of physical development, metabolism, immunity, and the morphofunctional state of internal organs and body systems.

Treatment of obesity in children

The goal of treating obesity in children is to achieve energy balance between energy consumption and expenditure. The criterion for the effectiveness of treating obesity in children is weight loss. A necessary condition for diet therapy in all age groups is calculating nutrition by proteins, fats, carbohydrates, and calories, comparing actual and recommended consumption.