| Phenotype and natural history in Marshall-Smith syndrome. | |
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MedLine Citation:
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PMID: 20949508 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array-CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions. |
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Authors:
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Adam C Shaw; Inge D C van Balkom; Mislen Bauer; Trevor R P Cole; Marie-Ange Delrue; Arie Van Haeringen; Eva Holmberg; Samantha J L Knight; Geert Mortier; Sheela Nampoothiri; Silvija Pušeljić; Martin Zenker; Valerie Cormier-Daire; Raoul C M Hennekam |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-10-27 Completed Date: 2011-02-04 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2714-26 Citation Subset: IM |
Copyright Information:
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© 2010 Wiley-Liss, Inc. |
Affiliation:
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Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK. a.shaw@ich.ucl.ac.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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genetics,
pathology Adolescent Adult Bone Diseases, Developmental* / genetics, pathology Child Child, Preschool Comparative Genomic Hybridization Craniofacial Abnormalities* / genetics, pathology Female Humans Infant Infant, Newborn Male Phenotype Septo-Optic Dysplasia* / genetics, pathology Time Factors Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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075491/Z/04//Wellcome Trust |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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