Wiedemannov-Rautenstrachov syndróm s vrodenou chybou srdca

Wiedemann-Rautenstrauch Syndrome with Inborn Heart Disease

The progeroid neonatal Syndrome is one of the rare diseases with an autosomal recessive inheritance. A boy with Wiedemann-Rautenstrauch disease was boru from the fourth pregnancy of an older mother without data on consanguinity. The neonate had typical clinical and radiological symptoms as well as a defekt of the ventricular septum. Cardiorespiratory insufficiency in conjunction with pneumonia and renal insufficiency proved fatal at the beginning of the second week of life.

Key words:
Wiedemann-Rautenstrauch Syndrome, progeroid appearance of neonate, Inborn heart disease, pseudomacrocephaly