Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review.

A genetic disorder caused by the microdeletion of the long arm of 22th chromosome is the most common microdeletion syndrome in humans. It is estimated that 22q11.2 deletion affects one in every 1,000 foetales and one in 4,000 live births.

Severe haemophilia A in a preterm girl with Turner syndrome: case report - a diagnostic and therapeutic challenge for a paediatrician (Part 2).

Background: Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical manifestation of severe haemophilia in preterm infants poses a great challenge to the therapeutic team.

Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I).

Background: Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, immaturity of small vessels in the germinal matrix region, prenatal hypoxia or sepsis. They affect the brain tissue, the gastrointestinal tract and the respiratory system, or are manifested by prolonged bleedings from injection sites.

Successful treatment of neonatal atrial flutter by synchronized cardioversion: case report and literature review.

Background: Atrial flutter (AFL) is a supraventricular tachyarrhythmia. In the ECG tracing, it is marked by a fast, irregular atrial activity of 280-500 beats per minute. AFL is known to be a rare and also life-threatening rhythm disorder both at the fetus and neonatal period.