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Marden-Walkerov sindrom-prikaz bolesnice (CROSBI ID 178227)

Prilog u časopisu | kratko priopćenje

Dumić, M. ; Rojnić-Putarek, N. ; Skrablin-Kucić, S. ; Matić, T. ; Ille, J. ; Radica, A. Marden-Walkerov sindrom-prikaz bolesnice // Liječnički vjesnik : glasilo Hrvatskoga liječničkog zbora, 131 (2009), 7-8; 203-206

Podaci o odgovornosti

Dumić, M. ; Rojnić-Putarek, N. ; Skrablin-Kucić, S. ; Matić, T. ; Ille, J. ; Radica, A.

hrvatski

Marden-Walkerov sindrom-prikaz bolesnice

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.

Marden-Walker syndrome

nije evidentirano

engleski

Marden-Walker syndrome-a case report

nije evidentirano

Marden-Walker syndrome

nije evidentirano

Podaci o izdanju

131 (7-8)

2009.

203-206

objavljeno

0024-3477

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost