title: [Marden-Walker syndrome--a case report].
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.
authors.affiliation: Klinika za pedijatriju Medicinskog fakulteta, KBC Zagreb. drdumic@mef.hr
authors.forename: Miroslav
authors.initials: M
authors.lastname: Dumić
authors.forename: Natasa
authors.initials: N
authors.lastname: Rojnić-Putarek
authors.forename: Snjezana
authors.initials: S
authors.lastname: Skrablin-Kucić
authors.forename: Toni
authors.initials: T
authors.lastname: Matić
authors.forename: Jasenka
authors.initials: J
authors.lastname: Ille
authors.forename: Ana
authors.initials: A
authors.lastname: Radica
mesh_terms: D000015:Abnormalities, Multiple; D016569:Blepharophimosis; D002675:Child, Preschool; D003286:Contracture; D019465:Craniofacial Abnormalities; D005260:Female; D006801:Humans; D013577:Syndrome