Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent
We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities ma...
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| Veröffentlicht in: | Clinical dysmorphology 1999-10, Vol.8 (4), p.269-276 |
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| container_title | Clinical dysmorphology |
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| creator | Adès, L C Davies, R Haan, E A Holman, K J Watson, K C Sreetharan, D Cao, S N Milewicz, D M Bateman, J F Chiodo, A A Eccles, M McNoe, L Harbord, M |
| description | We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years. |
| doi_str_mv | 10.1097/00019605-199910000-00007 |
| format | Article |
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Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.</description><identifier>ISSN: 0962-8827</identifier><identifier>DOI: 10.1097/00019605-199910000-00007</identifier><identifier>PMID: 10532176</identifier><language>eng</language><publisher>England</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - metabolism ; Adolescent ; Aneurysm, Dissecting ; Aorta, Thoracic ; Aortic Aneurysm ; Collagen - metabolism ; Fibrillins ; Fingers - abnormalities ; Humans ; Iris - abnormalities ; Karyotyping ; Male ; Microfilament Proteins - metabolism ; Polymorphism, Single-Stranded Conformational ; Toes - abnormalities</subject><ispartof>Clinical dysmorphology, 1999-10, Vol.8 (4), p.269-276</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10532176$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Adès, L C</creatorcontrib><creatorcontrib>Davies, R</creatorcontrib><creatorcontrib>Haan, E A</creatorcontrib><creatorcontrib>Holman, K J</creatorcontrib><creatorcontrib>Watson, K C</creatorcontrib><creatorcontrib>Sreetharan, D</creatorcontrib><creatorcontrib>Cao, S N</creatorcontrib><creatorcontrib>Milewicz, D M</creatorcontrib><creatorcontrib>Bateman, J F</creatorcontrib><creatorcontrib>Chiodo, A A</creatorcontrib><creatorcontrib>Eccles, M</creatorcontrib><creatorcontrib>McNoe, L</creatorcontrib><creatorcontrib>Harbord, M</creatorcontrib><title>Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent</title><title>Clinical dysmorphology</title><addtitle>Clin Dysmorphol</addtitle><description>We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - metabolism</subject><subject>Adolescent</subject><subject>Aneurysm, Dissecting</subject><subject>Aorta, Thoracic</subject><subject>Aortic Aneurysm</subject><subject>Collagen - metabolism</subject><subject>Fibrillins</subject><subject>Fingers - abnormalities</subject><subject>Humans</subject><subject>Iris - abnormalities</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Microfilament Proteins - metabolism</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Toes - abnormalities</subject><issn>0962-8827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkE1PwzAMhnMAsTH4CygnTiskadc0x2niS5rEBc6Rm6Q0qG1Kkh767wnbQFxs2Xptv34QwpTcUSL4PSGEipJsMiqEoKki2U_gZ2hJRMmyqmJ8gS5D-DwIBb9AC0o2OaO8XKJ263y0CmsbglHRumGNR4hmiFhPKk4Bg4_GWxemsMbW24DbeXRjB8EChkHj2oNq52g6M7bQwfAxYztgwD10BoN2nQkqrbtC5w10wVyf8gq9Pz687Z6z_evTy267zxTblDETBa8KXQpVmCbXwHhqaJFe04o3jSBlpaEWjNc6L0AoRkFp3lBSiopoIyBfodvj3tG7r8mEKHubDHTJmXFTkKVgpKKMJmF1FCrvQvCmkaO3PfhZUiJ_yMpfsvKPrDyQTaM3pxtT3Rv9b_CINf8G-Wt4DA</recordid><startdate>19991001</startdate><enddate>19991001</enddate><creator>Adès, L C</creator><creator>Davies, R</creator><creator>Haan, E A</creator><creator>Holman, K J</creator><creator>Watson, K C</creator><creator>Sreetharan, D</creator><creator>Cao, S N</creator><creator>Milewicz, D M</creator><creator>Bateman, J F</creator><creator>Chiodo, A A</creator><creator>Eccles, M</creator><creator>McNoe, L</creator><creator>Harbord, M</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19991001</creationdate><title>Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent</title><author>Adès, L C ; 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Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.</abstract><cop>England</cop><pmid>10532176</pmid><doi>10.1097/00019605-199910000-00007</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0962-8827 |
| ispartof | Clinical dysmorphology, 1999-10, Vol.8 (4), p.269-276 |
| issn | 0962-8827 |
| language | eng |
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| source | MEDLINE; Journals@Ovid Ovid Autoload |
| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Adolescent Aneurysm, Dissecting Aorta, Thoracic Aortic Aneurysm Collagen - metabolism Fibrillins Fingers - abnormalities Humans Iris - abnormalities Karyotyping Male Microfilament Proteins - metabolism Polymorphism, Single-Stranded Conformational Toes - abnormalities |
| title | Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent |
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