| Common atrium associated with polydactily and dwarfism in middle age male patient. | |
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MedLine Citation:
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PMID: 21776881 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Polydactyly associated with dwarfism may serve as a hint for the presence of additional congenital cardiac abnormalities, thus rousing the demand for a detailed cardiac and genetic investigation. In our case, echocardiography findings led to the diagnosis of most likely Ellis-van Creveld syndrome. We may conclude that prenatal diagnosis of the syndrome can be readily achieved by fetoscopy, fetal echocardiography, and molecular genetic testing by amniocentesis or DNA extracted from chorionic villus samples. Prenatal diagnosis can also be established using mutation analysis of EVC gene from fetal DNA. These cases emphasis the importance of fetal examination for accurate diagnosis of rare syndromes. Education of the general public, especially parents, on congenital anomalies as well as improvement of medical and diagnostic facilities is therefore suggested, if not demanded. |
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Authors:
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Daut R Gorani; Lulzim S Kamberi; Nora S Gorani |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Medicinski arhiv Volume: 65 ISSN: 0350-199X ISO Abbreviation: Med Arh Publication Date: 2011 |
Date Detail:
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Created Date: 2011-07-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0400722 Medline TA: Med Arh Country: Bosnia and Hercegovina |
Other Details:
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Languages: eng Pagination: 170-2 Citation Subset: IM |
Affiliation:
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Cardiology department. University clinical center of Prishtina, Kosova. |
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Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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