| Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation? | |
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MedLine Citation:
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PMID: 12966530 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A case with pulmonary atresia/ventricular septal defect associated with port-wine stain and retinal vascular abnormality is reported. Clinical findings were similar to both PHACE syndrome and Sturge-Weber syndrome (SWS). But, the most frequent and well-known features of both syndromes were absent. So, it could not be concluded whether this is a new constellation or an incomplete form of one of the two syndromes. In both situations, presence of a complex congenital heart disease that has not been reported previously makes this case original. |
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Authors:
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Hüseyin Tan; Naci Ceviz; Orhan Baykal; Mustafa Büyükavci; Necmettin Bilici |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 122A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Oct |
Date Detail:
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Created Date: 2003-09-10 Completed Date: 2004-04-22 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 266-8 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatric Neurology, Faculty of Medicine, Yakutiye Research Hospital, Atatürk University, 25240 Erzurum, Turkey. huseyin_tan@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Adolescent Diagnosis, Differential Eye Abnormalities / pathology* Female Heart Defects, Congenital / pathology* Humans Port-Wine Stain / pathology* Pulmonary Atresia / pathology* Syndrome |
| Comments/Corrections | |
Comment In:
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Am J Med Genet A. 2005 Jan 30;132A(3):340-1
[PMID:
15690382
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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