| Parkes Weber syndrome occurring in a family with capillary malformations. | |
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MedLine Citation:
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PMID: 17551330 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndrome with diffuse arteriovenous high flow leading to hemodynamic complications but without radiographic evidence of arteriovenous fistula. There are multiple individuals in the family with capillary malformations inherited in an autosomal dominant pattern. These observations reinforce the suggestions that Parkes Weber syndrome and capillary malformations may share a common pathogenetic pathway. |
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Authors:
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Nicola Brunetti-Pierri; Glen F Seidel; Moise L Levy; V Reid Sutton |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 16 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2007 Jul |
Date Detail:
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Created Date: 2007-06-06 Completed Date: 2007-08-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 167-71 Citation Subset: IM |
Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Capillaries / abnormalities* Female Femoral Artery / pathology Humans Infant, Newborn Leg / radiography Magnetic Resonance Angiography Male Pedigree Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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