Escobar syndrome in three male patients of same family
We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made...
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Veröffentlicht in: | Indian journal of human genetics 2011-01, Vol.17 (1), p.22-25 |
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creator | Amalnath, Deepak S Subrahmanyam, D.K.S Sridhar, S Dutta, T.K |
description | We describe three male individuals from a consanguineous south Indian
family affected with the multiple pterygium syndrome (Escobar
syndrome). Common clinical features included short stature, multiple
pterygium, skeletal anomalies, and normal intelligence. The first
report of this condition was made in 1902 from this same place
(Pondicherry) and the disease received its present popular name Escobar
syndrome in 1982. The genetic defect for this condition was identified
in 2006 as mutation in the fetal acetylcholine receptor. |
doi_str_mv | 10.4103/0971-6866.82188 |
format | Article |
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family affected with the multiple pterygium syndrome (Escobar
syndrome). Common clinical features included short stature, multiple
pterygium, skeletal anomalies, and normal intelligence. The first
report of this condition was made in 1902 from this same place
(Pondicherry) and the disease received its present popular name Escobar
syndrome in 1982. The genetic defect for this condition was identified
in 2006 as mutation in the fetal acetylcholine receptor.</description><identifier>ISSN: 0971-6866</identifier><identifier>EISSN: 1998-362X</identifier><identifier>DOI: 10.4103/0971-6866.82188</identifier><identifier>PMID: 21814339</identifier><language>eng</language><publisher>India: Medknow Publications on behalf of Indian Society of Human Genetics</publisher><subject>Bacterial pneumonia ; Case Report ; Case studies ; Diagnosis ; Escobar syndrome, familial, multiple pterygium syndrome ; Family ; Family medical history ; Genetic disorders ; Genetics ; Health aspects ; Pneumonia ; Scoliosis</subject><ispartof>Indian journal of human genetics, 2011-01, Vol.17 (1), p.22-25</ispartof><rights>Copyright 2011 Indian Journal of Human Genetics.</rights><rights>COPYRIGHT 2011 Medknow Publications and Media Pvt. Ltd.</rights><rights>Copyright Medknow Publications & Media Pvt Ltd 2011</rights><rights>Indian Journal of Human Genetics 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b4788-d935e31608d7efd8e331db4395c608803df1ba82fdfc8c2f46241077ee62da233</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144683/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144683/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793,79426</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21814339$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Amalnath, Deepak S</creatorcontrib><creatorcontrib>Subrahmanyam, D.K.S</creatorcontrib><creatorcontrib>Sridhar, S</creatorcontrib><creatorcontrib>Dutta, T.K</creatorcontrib><title>Escobar syndrome in three male patients of same family</title><title>Indian journal of human genetics</title><addtitle>Indian J Hum Genet</addtitle><description>We describe three male individuals from a consanguineous south Indian
family affected with the multiple pterygium syndrome (Escobar
syndrome). Common clinical features included short stature, multiple
pterygium, skeletal anomalies, and normal intelligence. The first
report of this condition was made in 1902 from this same place
(Pondicherry) and the disease received its present popular name Escobar
syndrome in 1982. The genetic defect for this condition was identified
in 2006 as mutation in the fetal acetylcholine receptor.</description><subject>Bacterial pneumonia</subject><subject>Case Report</subject><subject>Case studies</subject><subject>Diagnosis</subject><subject>Escobar syndrome, familial, multiple pterygium syndrome</subject><subject>Family</subject><subject>Family medical history</subject><subject>Genetic disorders</subject><subject>Genetics</subject><subject>Health aspects</subject><subject>Pneumonia</subject><subject>Scoliosis</subject><issn>0971-6866</issn><issn>1998-362X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>RBI</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptks9rFDEUx4Modls9e5NBDz3NNr8mk1yEUuoPKHhR8BYyyctuykyyJrvC_vdm3Ha1siQQeO_zvnm_EHpD8JITzK6w6kkrpBBLSYmUz9CCKCVbJuiP52hx9J6h81LuMaaMcvUSnVWWcMbUAonbYtNgclP20eU0QRNis11ngGYyIzQbsw0Qt6VJvimmur2Zwrh_hV54MxZ4_fBeoO8fb7_dfG7vvn76cnN91w68l7J1inXAiMDS9eCdBMaIGzhTna02iZnzZDCSeuettNRzQWtZfQ8gqDOUsQv04aC72Q0TOFtTyWbUmxwmk_c6maCfemJY61X6pRnhXMhZ4PJBIKefOyhbPYViYRxNhLQrWtWe9J0SopLv_iPv0y7HWp2WvWJVjqsKvT9Aq9ocHaJP9Vc7S-prKmgnsSRdpdoT1Aoi1BRTBB-q-Qm_PMHX42AK9mTA1SHA5lRKBn_sCMF6Xgw9j17Po9d_FqNGvP23kUf-cRP-5jCENIYIR8LmYPSjcb2qlxCMBfsNJp_BSA</recordid><startdate>201101</startdate><enddate>201101</enddate><creator>Amalnath, Deepak S</creator><creator>Subrahmanyam, D.K.S</creator><creator>Sridhar, S</creator><creator>Dutta, T.K</creator><general>Medknow Publications on behalf of Indian Society of Human Genetics</general><general>Medknow Publications and Media Pvt. 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Subrahmanyam, D.K.S ; Sridhar, S ; Dutta, T.K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b4788-d935e31608d7efd8e331db4395c608803df1ba82fdfc8c2f46241077ee62da233</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Bacterial pneumonia</topic><topic>Case Report</topic><topic>Case studies</topic><topic>Diagnosis</topic><topic>Escobar syndrome, familial, multiple pterygium syndrome</topic><topic>Family</topic><topic>Family medical history</topic><topic>Genetic disorders</topic><topic>Genetics</topic><topic>Health aspects</topic><topic>Pneumonia</topic><topic>Scoliosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Amalnath, Deepak S</creatorcontrib><creatorcontrib>Subrahmanyam, D.K.S</creatorcontrib><creatorcontrib>Sridhar, S</creatorcontrib><creatorcontrib>Dutta, T.K</creatorcontrib><collection>Bioline International</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>Public Health Database (Proquest)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest research library</collection><collection>ProQuest Science Journals</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Research Library China</collection><collection>ProQuest Publicly Available Content database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Indian journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Amalnath, Deepak S</au><au>Subrahmanyam, D.K.S</au><au>Sridhar, S</au><au>Dutta, T.K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Escobar syndrome in three male patients of same family</atitle><jtitle>Indian journal of human genetics</jtitle><addtitle>Indian J Hum Genet</addtitle><date>2011-01</date><risdate>2011</risdate><volume>17</volume><issue>1</issue><spage>22</spage><epage>25</epage><pages>22-25</pages><issn>0971-6866</issn><eissn>1998-362X</eissn><abstract>We describe three male individuals from a consanguineous south Indian
family affected with the multiple pterygium syndrome (Escobar
syndrome). Common clinical features included short stature, multiple
pterygium, skeletal anomalies, and normal intelligence. The first
report of this condition was made in 1902 from this same place
(Pondicherry) and the disease received its present popular name Escobar
syndrome in 1982. The genetic defect for this condition was identified
in 2006 as mutation in the fetal acetylcholine receptor.</abstract><cop>India</cop><pub>Medknow Publications on behalf of Indian Society of Human Genetics</pub><pmid>21814339</pmid><doi>10.4103/0971-6866.82188</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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language | eng |
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source | CLOCKSS; Bioline International; Portico (Triggered Content) Open Access; PubMed Central; EZB Electronic Journals Library; PubMed Central Open Access |
subjects | Bacterial pneumonia Case Report Case studies Diagnosis Escobar syndrome, familial, multiple pterygium syndrome Family Family medical history Genetic disorders Genetics Health aspects Pneumonia Scoliosis |
title | Escobar syndrome in three male patients of same family |
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