Marshall syndrome

Common Name(s)

Marshall syndrome

Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marshall syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Marshall syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Anesthesia out of surgical area in a child with Marshall-Smith Syndrome.
 

Author(s): A B Fernández, C Quesada, R Calvo

Journal: Minerva Anestesiol. 2011 Jan;77(1):97-8.

 

Last Updated: 28 Jan 2011

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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
 

Author(s): Valérie Malan, Diana Rajan, Sophie Thomas, Adam C Shaw, Hélène Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Puseljić, Laurence Legeai-Mallet, Nigel P Carter, Michel Vekemans, Arnold Munnich, Raoul C Hennekam, Laurence Colleaux, Valérie Cormier-Daire

Journal: Am. J. Hum. Genet.. 2010 Aug;87(2):189-98.

 

By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, ...

Last Updated: 10 Aug 2010

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Prenatal diagnosis of marshall syndrome by targeted sonography.
 

Author(s): Daniela Iacoboni, Barry M Karpel, Alan L Shanske, Robert W Marion, Susan J Gross

Journal: J Ultrasound Med. 2005 Dec;24(12):1735-7.

 

Last Updated: 22 Nov 2005

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Marshall syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.