| An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. | |
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MedLine Citation:
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PMID: 4050848 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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This report describes six relatives with a syndrome of mild prenatal-onset growth deficiency, an altered craniofacial appearance, preauricular pits, and clinodactyly of the fifth finger; three had tetralogy of Fallot. The clinical impact of this condition appears to be related to the severity of the cardiac defect. Autosomal dominant inheritance is implied by the occurrence of the disorder in three successive generations with documented male-to-male transmission. Recognition of this syndrome is important in counseling families regarding recurrence risk for tetralogy of Fallot. |
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Authors:
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M C Jones; J D Waldman |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 22 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1985 Sep |
Date Detail:
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Created Date: 1985-10-31 Completed Date: 1985-10-31 Revised Date: 2004-11-17 |
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: 135-41 Citation Subset: IM |
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 Child, Preschool Ear, External / abnormalities Face / abnormalities* Female Fingers / abnormalities* Genes, Dominant Humans Male Pedigree Skull / abnormalities Tetralogy of Fallot / genetics* |
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