| A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome. | |
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MedLine Citation:
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PMID: 19860531 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Our report is on a Hispanic boy for whom, shortly after birth, clinical suspicion of 22q11.2 deletion syndrome (22q11.2DS) was raised as a result of his characteristic features, including facial dysmorphisms and hypotonia. The 22q11.2DS was confirmed by fluorescence in situ hybridization (FISH), noting a 22q11.2 deletion. Further evaluation revealed complete congenital absence of the left internal carotid artery and focal pachygyria of the left hemisphere. Multiple cardiac and vascular anomalies have been previously described in 22q11 deletion syndrome, but congenital absence of the internal carotid has not been previously reported in the literature. We present a clinical case report in detail of this unique 22q11.2 deletion syndrome associated finding. |
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Authors:
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Matthew D Johnson; Lindell R Gentry; Gregory M Rice; Delora L Mount |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Volume: 47 ISSN: 1545-1569 ISO Abbreviation: Cleft Palate Craniofac. J. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-30 Completed Date: 2010-12-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102566 Medline TA: Cleft Palate Craniofac J Country: United States |
Other Details:
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Languages: eng Pagination: 314-7 Citation Subset: D; IM |
Affiliation:
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Division of Otolaryngology-Head and Neck Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA. mjohnson@uwhealth.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Carotid Artery, Internal / abnormalities* Chromosomes, Human, Pair 22* DiGeorge Syndrome / diagnosis*, genetics Diagnosis, Differential Gene Deletion Humans In Situ Hybridization, Fluorescence Infant Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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