Marshall-Smith syndrome

Common Name(s)

Marshall-Smith syndrome

Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marshall-Smith 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-Smith syndrome" returned 5 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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Marshall-Smith syndrome: the expanding phenotype.
 

Author(s): D K Williams, D R Carlton, S H Green, K Pearman, T R Cole

Journal: J. Med. Genet.. 1997 Oct;34(10):842-5.

 

We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at 5 months of age, careful observation for respiratory complications and failure to ...

Last Updated: 9 Dec 1997

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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-Smith syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Marshall-Smith syndrome: case report of a newborn male and review of the literature.
 

Author(s): D A Summers, H A Cooper, M G Butler

Journal: Clin. Dysmorphol.. 1999 Jul;8(3):207-10.

 

Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative failure to thrive. We report a newborn male with Marshall-Smith syndrome and summarize 21 previously reported cases. We report cerebellar hypoplasia in our patient, ...

Last Updated: 22 Sep 1999

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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