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[Marden-Walker syndrome--a case report].
Lijec Vjesn. 2009 Jul-Aug; 131(7-8):203-6.LV

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+Show Affiliations

Klinika za pedijatriju Medicinskog fakulteta, KBC Zagreb. drdumic@mef.hrNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

hrv

PubMed ID

19769282

Citation

Dumić, Miroslav, et al. "[Marden-Walker Syndrome--a Case Report]." Lijecnicki Vjesnik, vol. 131, no. 7-8, 2009, pp. 203-6.
Dumić M, Rojnić-Putarek N, Skrablin-Kucić S, et al. [Marden-Walker syndrome--a case report]. Lijec Vjesn. 2009;131(7-8):203-6.
Dumić, M., Rojnić-Putarek, N., Skrablin-Kucić, S., Matić, T., Ille, J., & Radica, A. (2009). [Marden-Walker syndrome--a case report]. Lijecnicki Vjesnik, 131(7-8), 203-6.
Dumić M, et al. [Marden-Walker Syndrome--a Case Report]. Lijec Vjesn. 2009 Jul-Aug;131(7-8):203-6. PubMed PMID: 19769282.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Marden-Walker syndrome--a case report]. AU - Dumić,Miroslav, AU - Rojnić-Putarek,Natasa, AU - Skrablin-Kucić,Snjezana, AU - Matić,Toni, AU - Ille,Jasenka, AU - Radica,Ana, PY - 2009/9/23/entrez PY - 2009/9/23/pubmed PY - 2009/12/23/medline SP - 203 EP - 6 JF - Lijecnicki vjesnik JO - Lijec Vjesn VL - 131 IS - 7-8 N2 - 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. SN - 0024-3477 UR - https://www.unboundmedicine.com/medline/citation/19769282/[Marden_Walker_syndrome__a_case_report]_ L2 - http://www.diseaseinfosearch.org/result/4464 DB - PRIME DP - Unbound Medicine ER -