Arterial tortuosity syndrome
The arterial tortuosity syndrome is a rare congenital disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. Associated clinical features consist of excessively stretchable skin and joint laxity which is indicative of a connective tissue disorder s...
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| Veröffentlicht in: | Klinische Pädiatrie 2005-01, Vol.217 (1), p.36 |
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| container_title | Klinische Pädiatrie |
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| creator | Meyer, S Faiyaz-Ul-Haque, M Zankl, M Sailer, N-L Marx, N Limbach, H G Lindinger, A |
| description | The arterial tortuosity syndrome is a rare congenital disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. Associated clinical features consist of excessively stretchable skin and joint laxity which is indicative of a connective tissue disorder such as Ehlers-Danlos or Cutis laxa syndrome. The gene locus of the arterial tortuosity syndrome has recently been localised on chromosome 20q13; inheritance ist autosomal recessive. - We report on a newborn with arterial tortuosity syndrome and hiatal hernia, bilateral hip dislocation, inguinal hernias and diffuse tortuosity of the great arteries including the aorta. Known gene loci involved in Ehlers-Danlos syndrome, cutis laxa syndrome and other connective tissue disorders were excluded by specific DNA markers. By homozygosity mapping with polymorphic microsatellite markers it was possible to confirm the gene locus for the ATS on chromosome 20q13. In addition to the presentation of this patient, a review of the literature is presented. |
| doi_str_mv | 10.1055/s-2004-822635 |
| format | Article |
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Associated clinical features consist of excessively stretchable skin and joint laxity which is indicative of a connective tissue disorder such as Ehlers-Danlos or Cutis laxa syndrome. The gene locus of the arterial tortuosity syndrome has recently been localised on chromosome 20q13; inheritance ist autosomal recessive. - We report on a newborn with arterial tortuosity syndrome and hiatal hernia, bilateral hip dislocation, inguinal hernias and diffuse tortuosity of the great arteries including the aorta. Known gene loci involved in Ehlers-Danlos syndrome, cutis laxa syndrome and other connective tissue disorders were excluded by specific DNA markers. By homozygosity mapping with polymorphic microsatellite markers it was possible to confirm the gene locus for the ATS on chromosome 20q13. 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Associated clinical features consist of excessively stretchable skin and joint laxity which is indicative of a connective tissue disorder such as Ehlers-Danlos or Cutis laxa syndrome. The gene locus of the arterial tortuosity syndrome has recently been localised on chromosome 20q13; inheritance ist autosomal recessive. - We report on a newborn with arterial tortuosity syndrome and hiatal hernia, bilateral hip dislocation, inguinal hernias and diffuse tortuosity of the great arteries including the aorta. Known gene loci involved in Ehlers-Danlos syndrome, cutis laxa syndrome and other connective tissue disorders were excluded by specific DNA markers. By homozygosity mapping with polymorphic microsatellite markers it was possible to confirm the gene locus for the ATS on chromosome 20q13. In addition to the presentation of this patient, a review of the literature is presented.</description><subject>Abnormalities, Multiple - diagnostic imaging</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Aortic Diseases - diagnostic imaging</subject><subject>Aortic Diseases - genetics</subject><subject>Cardiovascular Abnormalities - diagnostic imaging</subject><subject>Cardiovascular Abnormalities - genetics</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 20</subject><subject>Consanguinity</subject><subject>Cutis Laxa - diagnostic imaging</subject><subject>Cutis Laxa - genetics</subject><subject>Ehlers-Danlos Syndrome - diagnostic imaging</subject><subject>Ehlers-Danlos Syndrome - genetics</subject><subject>Facies</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Hernia, Hiatal - diagnostic imaging</subject><subject>Hernia, Hiatal - genetics</subject><subject>Hip Dislocation, Congenital - diagnostic imaging</subject><subject>Hip Dislocation, Congenital - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Muscle Hypotonia - diagnostic imaging</subject><subject>Muscle Hypotonia - genetics</subject><subject>Radiography</subject><issn>0300-8630</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1zrtOwzAYhmEPIFoKIxtCvQHD9_sYj1UFBalSlzJXPkUKakhkp0PungGY3u3Ry9gD4Zmg9UvlAlC8EcJIfcWWkABvjMSC3db6BZBycDdsQdooOEtL9rgpUy6dP6-noUyXoXbTvK7zdypDn-_YdevPNd__dcU-316P23e-P-w-tps9HwnNxFMQypBN1iOLpAEbjUNMkaxJLnvrEomcXXRkhM_Bw2qSSgW00bYBcsWeft3xEvqcTmPpel_m0_-m_AHvhzwP</recordid><startdate>200501</startdate><enddate>200501</enddate><creator>Meyer, S</creator><creator>Faiyaz-Ul-Haque, M</creator><creator>Zankl, M</creator><creator>Sailer, N-L</creator><creator>Marx, N</creator><creator>Limbach, H G</creator><creator>Lindinger, A</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope></search><sort><creationdate>200501</creationdate><title>Arterial tortuosity syndrome</title><author>Meyer, S ; Faiyaz-Ul-Haque, M ; Zankl, M ; Sailer, N-L ; Marx, N ; Limbach, H G ; Lindinger, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p108t-db24617d7a0e2d5007c690cdc176d9ea79d12ee9c9162aeba0751344b0fc7fb03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>ger</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple - diagnostic imaging</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Aortic Diseases - diagnostic imaging</topic><topic>Aortic Diseases - genetics</topic><topic>Cardiovascular Abnormalities - diagnostic imaging</topic><topic>Cardiovascular Abnormalities - genetics</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 20</topic><topic>Consanguinity</topic><topic>Cutis Laxa - diagnostic imaging</topic><topic>Cutis Laxa - genetics</topic><topic>Ehlers-Danlos Syndrome - diagnostic imaging</topic><topic>Ehlers-Danlos Syndrome - genetics</topic><topic>Facies</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Hernia, Hiatal - diagnostic imaging</topic><topic>Hernia, Hiatal - genetics</topic><topic>Hip Dislocation, Congenital - diagnostic imaging</topic><topic>Hip Dislocation, Congenital - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Muscle Hypotonia - diagnostic imaging</topic><topic>Muscle Hypotonia - genetics</topic><topic>Radiography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Meyer, S</creatorcontrib><creatorcontrib>Faiyaz-Ul-Haque, M</creatorcontrib><creatorcontrib>Zankl, M</creatorcontrib><creatorcontrib>Sailer, N-L</creatorcontrib><creatorcontrib>Marx, N</creatorcontrib><creatorcontrib>Limbach, H G</creatorcontrib><creatorcontrib>Lindinger, A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>Klinische Pädiatrie</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Meyer, S</au><au>Faiyaz-Ul-Haque, M</au><au>Zankl, M</au><au>Sailer, N-L</au><au>Marx, N</au><au>Limbach, H G</au><au>Lindinger, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Arterial tortuosity syndrome</atitle><jtitle>Klinische Pädiatrie</jtitle><addtitle>Klin Padiatr</addtitle><date>2005-01</date><risdate>2005</risdate><volume>217</volume><issue>1</issue><spage>36</spage><pages>36-</pages><issn>0300-8630</issn><abstract>The arterial tortuosity syndrome is a rare congenital disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. Associated clinical features consist of excessively stretchable skin and joint laxity which is indicative of a connective tissue disorder such as Ehlers-Danlos or Cutis laxa syndrome. The gene locus of the arterial tortuosity syndrome has recently been localised on chromosome 20q13; inheritance ist autosomal recessive. - We report on a newborn with arterial tortuosity syndrome and hiatal hernia, bilateral hip dislocation, inguinal hernias and diffuse tortuosity of the great arteries including the aorta. Known gene loci involved in Ehlers-Danlos syndrome, cutis laxa syndrome and other connective tissue disorders were excluded by specific DNA markers. By homozygosity mapping with polymorphic microsatellite markers it was possible to confirm the gene locus for the ATS on chromosome 20q13. In addition to the presentation of this patient, a review of the literature is presented.</abstract><cop>Germany</cop><pmid>15640971</pmid><doi>10.1055/s-2004-822635</doi></addata></record> |
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| ispartof | Klinische Pädiatrie, 2005-01, Vol.217 (1), p.36 |
| issn | 0300-8630 |
| language | ger |
| recordid | cdi_pubmed_primary_15640971 |
| source | MEDLINE; Thieme Connect Journals |
| subjects | Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Aortic Diseases - diagnostic imaging Aortic Diseases - genetics Cardiovascular Abnormalities - diagnostic imaging Cardiovascular Abnormalities - genetics Chromosome Aberrations Chromosomes, Human, Pair 20 Consanguinity Cutis Laxa - diagnostic imaging Cutis Laxa - genetics Ehlers-Danlos Syndrome - diagnostic imaging Ehlers-Danlos Syndrome - genetics Facies Female Genes, Recessive Hernia, Hiatal - diagnostic imaging Hernia, Hiatal - genetics Hip Dislocation, Congenital - diagnostic imaging Hip Dislocation, Congenital - genetics Humans Infant, Newborn Muscle Hypotonia - diagnostic imaging Muscle Hypotonia - genetics Radiography |
| title | Arterial tortuosity syndrome |
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