[Marden-Walker syndrome--a case report]. / Marden-Walkerov sindrom--prikaz bolesnice.

ABSTRACT

Up to now 36 cases of Marden Walker syndrome (MIM # 248700) have been reported. The underlying pathological mechanism has not yet been clearly established, but it is assumed that it is a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner. Three main diagnostic criteria are blepharophimosis, congenital joint contractures and mask-like face, but numerous other anomalies have been described in these patients. We present a girl with clinical characteristics of Marden Walker syndrome, which has not yet been reported in our literature. Together with three major and many other clinical signs which confirm the diagnosis, our girl also has a vesicoureteral reflux and umbilical hernia, which have not yet been described in these patients.