Diseases of children (pediatrics)

VATER-association

The spectrum of congenital malformations is very wide and more than 2/3 of these defects are located in the lower segment of the body (defects of the distal parts of the intestine, genito-urinary anomalies, pelvic bone and lower limbs).

Syndrome Noonan: causes, symptoms, diagnosis, treatment

The Noonan syndrome is named after the author who described the disease in 1963. The neonates have a growth retardation (length at birth of 48 cm) with normal body weight. From birth, congenital heart defects (valve stenosis of the pulmonary artery, defect of the interventricular septum), cryptorchidism in boys in 60% of cases, combined deformity of the thorax are diagnosed.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital disease that is characterized by excessively rapid growth at a younger age, asymmetry in the development of the body, an increased risk of developing cancer and some birth defects, and a violation of the child’s behavior.

Shereshevsky-Turner Syndrome

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

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

Epidemiology of Leszmann's syndrome. Population frequency is unknown. Not more than 1% of patients with deep mental retardation exhibit a 5p- deletion.

Wolff-Hirschhorn Syndrome (short chromosome aberration 4): causes, symptoms, diagnosis, treatment

Wolff-Hirschhorn syndrome is described in more than 150 publications.

Edwards Syndrome (Trisomy syndrome on chromosome 18): causes, symptoms, diagnosis, treatment

Edwards' syndrome (trisomy 18, trisomy on the 18th chromosome) is caused by an extra 18th chromosome and usually includes low intelligence, low birth weight and multiple malformations, including pronounced microcephaly, protruding occiput, low-set abnormally formed ears and characteristic features of the face.

Syndrome Patau (a syndrome of trisomy on a chromosome 13)

The Patau syndrome (trisomy on the 13th chromosome) develops in the presence of an extra 13th chromosome and includes malformations of the forebrain, face and eyes; marked mental retardation; low birth weight.

Down syndrome

Down syndrome is the most commonly diagnosed chromosomal syndrome. Clinically described by Down in 1866. Karyotypically identified in 1959.

Malnutrition in children: causes, symptoms, diagnosis, treatment

Nutritional disorders are pathological conditions that result from inadequate or excessive intake and / or absorption of nutrients. Nutrition disorders are characterized by a violation of physical development, metabolism, immunity, morphofunctional state of internal organs and body systems.

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