| Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. | |
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MedLine Citation:
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PMID: 16086394 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. |
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Authors:
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Margaret P Adam; Raoul C M Hennekam; Laura Davis Keppen; Marilyn J Bull; Carol L Clericuzio; Leah W Burke; Kelly E Ormond; Eugene H Hoyme |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 137 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2005 Aug |
Date Detail:
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Created Date: 2005-08-29 Completed Date: 2005-10-17 Revised Date: 2005-11-16 |
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: 117-24 Citation Subset: IM |
Copyright Information:
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(c) 2005 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. madam@genetics.emory.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Child Child, Preschool Craniofacial Abnormalities* Face / abnormalities Failure to Thrive / pathology Fatal Outcome Female Humans Infant Male Mental Retardation / pathology Osteochondrodysplasias / pathology* Respiration Disorders / pathology Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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