| Beals-Hecht syndrome. | |
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MedLine Citation:
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PMID: 12144083 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis and thoracic cage abnormalities in this syndrome. We describe a child with Beals-Hecht syndrome and review the literature. |
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Authors:
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Jennifer L Jones; Joshua E Lane; James J Logan; Maria E Vanegas |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Southern medical journal Volume: 95 ISSN: 0038-4348 ISO Abbreviation: South. Med. J. Publication Date: 2002 Jul |
Date Detail:
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Created Date: 2002-07-29 Completed Date: 2002-08-07 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 0404522 Medline TA: South Med J Country: United States |
Other Details:
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Languages: eng Pagination: 753-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, Mercer University School of Medicine, Medical Center of Central Georgia, Macon 31208, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Connective Tissue Diseases / diagnosis*, genetics Contracture / congenital, diagnosis*, genetics Ear, External / abnormalities Genes, Dominant Humans Lung Diseases / diagnosis, genetics Male Microfilament Proteins / deficiency Scoliosis / diagnosis, genetics Somatotypes Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Microfilament Proteins; 0/fibrillin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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