Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations

Authors:	B A Lesser D Wendt V M Miks R A Norum

Affiliation:	1. Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, 655 W. Baltimore St., Baltimore, MD, 21201, USA;2. Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee St., Charlottesville, VA, 22908, USA;1. Leiden University Medical Center, Leiden, The Netherlands;2. RTI Health Solutions, Research Triangle Institute, Research Triangle Park, NC;3. Boehringer Ingelheim, Burlington, ON, Canada;4. Boehringer Ingelheim, Frankfurt am Main, Germany;5. University of Duisburg-Essen, Germany;6. Clínica y Maternidad Suizo Argentina, Buenos Aires, Argentina;7. Icahn School of Medicine at Mount Sinai, New York, NY;8. Beijing AnZhen Hospital, Capital Medical University, Beijing, China;9. University of Birmingham Centre for Cardiovascular Sciences, City Hospital, Birmingham, UK;1. Department of Surgery, Division of Otolaryngology – Head and Neck Surgery, Queen Elizabeth II Health Science Centre and Dalhousie University, Halifax, Nova Scotia, Canada;2. Department of Pathology, Division of Anatomical Pathology, Queen Elizabeth II Health Science Centre and Dalhousie University, Halifax, Nova Scotia, Canada;1. Department of Radiology, Avicenne Military Hospital, Marrakech, Morocco;2. Department of Neurosurgery, Avicenne Military Hospital, Marrakech, Morocco

Abstract:	Central nervous system arteriovenous malformations are uncommon in hereditary hemorrhagic telangiectasia. Identical twins are described with hereditary hemorrhagic telangiectasia and concordance for central nervous system arteriovenous malformations identified by angiography. One twin had a central nervous system hemorrhage in the seventh month of pregnancy and also had a pulmonary arteriovenous malformation. The other was asymptomatic. A previously reported association between HLA type A2 BW17 and hereditary hemorrhagic telangiectasia was not confirmed. Two recombinations were identified between the loci for HLA and hereditary hemorrhagic telangiectasia. The loci for HLA and hereditary hemorrhagic telangiectasia are not closely linked. Stroke in a young person should prompt an inspection for manifestations of hereditary hemorrhagic telangiectasia.

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