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Marden-Walker syndrome

Marden Walker Syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Marden-Walker syndrome" returned 0 free, full-text review articles. First 0 results:
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.
Last Updated: Dec 02, 2018

To review literature concerning Marden-Walker syndrome (MWS) and describe physical-functional characteristics of a child with a suspected diagnosis of MWS.

Marden-Walker syndrome: a case report and a critical review of the literature.
Last Updated: Nov 16, 2005

We present a patient with blepharophimosis, joint contractures, immobile facies, decreased muscular bulk, postnatal growth retardation, developmental delay, micrognathia, cleft palate, camptodactyly, arachnodactyly, pectus, kyphoscoliosis, hypospadias, and absent deep tendon reflexes. ...

Marden-Walker syndrome: case report, literature review and nosologic discussion.
Last Updated: Nov 16, 2005

The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Marden-Walker syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Marden-Walker syndrome" returned 4 free, full-text research articles. First few results:
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
Last Updated: Aug 27, 2018

Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel ...

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Last Updated: Nov 13, 2018

Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel ...

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
Last Updated: Sep 03, 2014

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term ...

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4 Free Research Articles 18 Research Articles