Loading…
Waardenburg syndrome and myelomeningocele in a family
We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.
Saved in:
| Published in: | Journal of medical genetics 1993-01, Vol.30 (1), p.83-84 |
|---|---|
| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3 |
| container_end_page | 84 |
| container_issue | 1 |
| container_start_page | 83 |
| container_title | Journal of medical genetics |
| container_volume | 30 |
| creator | Chatkupt, S Johnson, W G |
| description | We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1. |
| doi_str_mv | 10.1136/jmg.30.1.83 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1016244</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>16421958</sourcerecordid><originalsourceid>FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3</originalsourceid><addsrcrecordid>eNqFkc1rFDEYxoMo7bb15LkwYPFSZpvvTC6CLFqltXqoFbyENzOZNetMpk12ivvfN3WXbetBIfA-8Px48n4g9IrgKSFMniz6-ZRlPa3YMzQhXFalpJw_RxOMKS2p0GwX7aW0wJgwReQO2qk4ZZLICRLfAWLjgh3jvEir0MShdwWEpuhXrss6-DAfate5wocCihZ6360O0IsWuuRebuo--vbh_eXsY3n-5fTT7N15aQVjy9I1QC1IZXVLmFNQKwXCMpt_plZyAMwrV3PQNksNDZY1a7TTUmiQhFi2j96uc69H27umdmEZoTPX0fcQV2YAb546wf808-HWEEzuV5AD3mwC4nAzurQ0vU95mg6CG8ZklBB5E_n9DySSU6JFlcHXf4GLYYwhb8EQpbCoqPoTd7ym6jikFF277Zlgc380k49mWNamYpk-fDzmlt1cKftHGx9SDV0bIdQ-bTEuJGFMZ6xcYz4t3e-tDfGXkYopYS6uZubH54uzq6-nl0Y_zGz7xT_7uwP1CbsR</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1770582742</pqid></control><display><type>article</type><title>Waardenburg syndrome and myelomeningocele in a family</title><source>PubMed Central</source><creator>Chatkupt, S ; Johnson, W G</creator><creatorcontrib>Chatkupt, S ; Johnson, W G</creatorcontrib><description>We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.30.1.83</identifier><identifier>PMID: 8423616</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; case reports ; Child, Preschool ; Chromosomes, Human, Pair 2 ; Family Health ; Female ; Hair Diseases - complications ; Hair Diseases - genetics ; Hearing Disorders - complications ; Hearing Disorders - genetics ; Humans ; Male ; Malformations of the nervous system ; man ; Medical sciences ; Meningomyelocele - complications ; Meningomyelocele - genetics ; myelomeningocele ; Neurology ; Pedigree ; Waardenburg syndrome ; Waardenburg Syndrome - complications ; Waardenburg Syndrome - genetics</subject><ispartof>Journal of medical genetics, 1993-01, Vol.30 (1), p.83-84</ispartof><rights>1993 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Jan 1993</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3</citedby><cites>FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016244/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016244/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,4024,27923,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4561339$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8423616$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chatkupt, S</creatorcontrib><creatorcontrib>Johnson, W G</creatorcontrib><title>Waardenburg syndrome and myelomeningocele in a family</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.</description><subject>Biological and medical sciences</subject><subject>case reports</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Family Health</subject><subject>Female</subject><subject>Hair Diseases - complications</subject><subject>Hair Diseases - genetics</subject><subject>Hearing Disorders - complications</subject><subject>Hearing Disorders - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations of the nervous system</subject><subject>man</subject><subject>Medical sciences</subject><subject>Meningomyelocele - complications</subject><subject>Meningomyelocele - genetics</subject><subject>myelomeningocele</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Waardenburg syndrome</subject><subject>Waardenburg Syndrome - complications</subject><subject>Waardenburg Syndrome - genetics</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><recordid>eNqFkc1rFDEYxoMo7bb15LkwYPFSZpvvTC6CLFqltXqoFbyENzOZNetMpk12ivvfN3WXbetBIfA-8Px48n4g9IrgKSFMniz6-ZRlPa3YMzQhXFalpJw_RxOMKS2p0GwX7aW0wJgwReQO2qk4ZZLICRLfAWLjgh3jvEir0MShdwWEpuhXrss6-DAfate5wocCihZ6360O0IsWuuRebuo--vbh_eXsY3n-5fTT7N15aQVjy9I1QC1IZXVLmFNQKwXCMpt_plZyAMwrV3PQNksNDZY1a7TTUmiQhFi2j96uc69H27umdmEZoTPX0fcQV2YAb546wf808-HWEEzuV5AD3mwC4nAzurQ0vU95mg6CG8ZklBB5E_n9DySSU6JFlcHXf4GLYYwhb8EQpbCoqPoTd7ym6jikFF277Zlgc380k49mWNamYpk-fDzmlt1cKftHGx9SDV0bIdQ-bTEuJGFMZ6xcYz4t3e-tDfGXkYopYS6uZubH54uzq6-nl0Y_zGz7xT_7uwP1CbsR</recordid><startdate>199301</startdate><enddate>199301</enddate><creator>Chatkupt, S</creator><creator>Johnson, W G</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>IQODW</scope><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>K9.</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>199301</creationdate><title>Waardenburg syndrome and myelomeningocele in a family</title><author>Chatkupt, S ; Johnson, W G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Biological and medical sciences</topic><topic>case reports</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Family Health</topic><topic>Female</topic><topic>Hair Diseases - complications</topic><topic>Hair Diseases - genetics</topic><topic>Hearing Disorders - complications</topic><topic>Hearing Disorders - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Malformations of the nervous system</topic><topic>man</topic><topic>Medical sciences</topic><topic>Meningomyelocele - complications</topic><topic>Meningomyelocele - genetics</topic><topic>myelomeningocele</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Waardenburg syndrome</topic><topic>Waardenburg Syndrome - complications</topic><topic>Waardenburg Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chatkupt, S</creatorcontrib><creatorcontrib>Johnson, W G</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chatkupt, S</au><au>Johnson, W G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Waardenburg syndrome and myelomeningocele in a family</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1993-01</date><risdate>1993</risdate><volume>30</volume><issue>1</issue><spage>83</spage><epage>84</epage><pages>83-84</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>8423616</pmid><doi>10.1136/jmg.30.1.83</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-2593 |
| ispartof | Journal of medical genetics, 1993-01, Vol.30 (1), p.83-84 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1016244 |
| source | PubMed Central |
| subjects | Biological and medical sciences case reports Child, Preschool Chromosomes, Human, Pair 2 Family Health Female Hair Diseases - complications Hair Diseases - genetics Hearing Disorders - complications Hearing Disorders - genetics Humans Male Malformations of the nervous system man Medical sciences Meningomyelocele - complications Meningomyelocele - genetics myelomeningocele Neurology Pedigree Waardenburg syndrome Waardenburg Syndrome - complications Waardenburg Syndrome - genetics |
| title | Waardenburg syndrome and myelomeningocele in a family |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-03T10%3A51%3A23IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Waardenburg%20syndrome%20and%20myelomeningocele%20in%20a%20family&rft.jtitle=Journal%20of%20medical%20genetics&rft.au=Chatkupt,%20S&rft.date=1993-01&rft.volume=30&rft.issue=1&rft.spage=83&rft.epage=84&rft.pages=83-84&rft.issn=0022-2593&rft.eissn=1468-6244&rft.coden=JMDGAE&rft_id=info:doi/10.1136/jmg.30.1.83&rft_dat=%3Cproquest_pubme%3E16421958%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-b533t-eda2ba67b9f13e7ac77a5b3b6162b64aa048ec4a9baa09ad06c3d9e9659a611b3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1770582742&rft_id=info:pmid/8423616&rfr_iscdi=true |