| The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. | |
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MedLine Citation:
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PMID: 6650566 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome. |
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Authors:
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H Chen; B Blumberg; L Immken; R Lachman; D Rightmire; M Fowler; R Bachman; F A Beemer |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 16 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1983 Oct |
Date Detail:
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Created Date: 1984-01-07 Completed Date: 1984-01-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 213-24 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
/
diagnosis,
genetics* Ankylosis / genetics* Face / abnormalities* Female Fingers / abnormalities Humans Infant, Newborn Lung / abnormalities* Male Prenatal Diagnosis Pterygium / genetics Syndrome Ultrasonography |
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