| Multiple pterygium syndrome. | |
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MedLine Citation:
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PMID: 7334504 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases. |
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Authors:
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V B Penchaszadeh; B Salszberg |
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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: Journal of medical genetics Volume: 18 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1981 Dec |
Date Detail:
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Created Date: 1982-05-21 Completed Date: 1982-05-21 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 451-5 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Female Genes, Recessive Genetic Variation* Humans Male Phenotype Pterygium / genetics* |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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