Wiedemann-Rautenstrauch Syndrome with Inborn Heart Disease


Authors: Š. Rosipal;  D. Rosipalová;  K. Suchá
Authors‘ workplace: Detské oddelenie NsP, Poprad, primán MUDr. Š. Rosipal
Published in: Čes-slov Pediat 2002; (5): 252-254.
Category:

Overview

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

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Labels
Neonatology Paediatrics General practitioner for children and adolescents
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