| Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). | |
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MedLine Citation:
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PMID: 1342853 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978). |
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Authors:
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I K Temple |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 1 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1992 Jan |
Date Detail:
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Created Date: 1994-02-18 Completed Date: 1994-02-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 17-21 Citation Subset: IM |
Affiliation:
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Wessex Regional Clinical Genetics Unit, Department of Child Health, Princess Anne Hospital, Southampton. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Ductus Arteriosus, Patent / genetics* Female Hand Deformities, Congenital* Humans Infant Male Mouth Abnormalities / genetics* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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