Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses
What's already known about this topic? Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally. What does this study add? We report and review the ultrasou...
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| Veröffentlicht in: | Prenatal diagnosis 2014-03, Vol.34 (3), p.296-298 |
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| container_title | Prenatal diagnosis |
| container_volume | 34 |
| creator | Zhou, Yan Huang, Jin Cheng, Yvonne Kwun Yue Leung, Tak Yeung Pooh, Ritsuko K. Lo, Fai Man Choy, Kwong Wai |
| description | What's already known about this topic?
Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.
What does this study add?
We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study.
The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect.
The prevalence of MWS in Hong Kong is reported. |
| doi_str_mv | 10.1002/pd.4292 |
| format | Article |
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Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.
What does this study add?
We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study.
The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect.
The prevalence of MWS in Hong Kong is reported.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.4292</identifier><identifier>PMID: 24375696</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Down syndrome ; Facies ; Female ; Fetuses ; Hirschsprung Disease - diagnosis ; Humans ; Intellectual Disability - diagnosis ; Microcephaly - diagnosis ; Pregnancy ; Prenatal Diagnosis ; Young Adult</subject><ispartof>Prenatal diagnosis, 2014-03, Vol.34 (3), p.296-298</ispartof><rights>2013 John Wiley & Sons, Ltd.</rights><rights>2014 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3832-15c50f23ce2bbb1f8916230f1a63e982e7bc2ec99a97fa93ddc0b893acb2020b3</citedby><cites>FETCH-LOGICAL-c3832-15c50f23ce2bbb1f8916230f1a63e982e7bc2ec99a97fa93ddc0b893acb2020b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.4292$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.4292$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24375696$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhou, Yan</creatorcontrib><creatorcontrib>Huang, Jin</creatorcontrib><creatorcontrib>Cheng, Yvonne Kwun Yue</creatorcontrib><creatorcontrib>Leung, Tak Yeung</creatorcontrib><creatorcontrib>Pooh, Ritsuko K.</creatorcontrib><creatorcontrib>Lo, Fai Man</creatorcontrib><creatorcontrib>Choy, Kwong Wai</creatorcontrib><title>Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>What's already known about this topic?
Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.
What does this study add?
We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study.
The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect.
The prevalence of MWS in Hong Kong is reported.</description><subject>Down syndrome</subject><subject>Facies</subject><subject>Female</subject><subject>Fetuses</subject><subject>Hirschsprung Disease - diagnosis</subject><subject>Humans</subject><subject>Intellectual Disability - diagnosis</subject><subject>Microcephaly - diagnosis</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Young Adult</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10F1LHDEYhuFQLHW1xX9QBjyoILNN8s5HcmitbkvtJ4rgSchk3pTozGSbzLDdf2-W3Xog9CiBXNyEh5AjRueMUv5-2c4LLvkLMmNU1jnlHPbIjLJ0B1GyfXIQ432Cgsv6FdnnBdRlJasZ-fkLzRQCDmMWxzCZcQq6y3rdWR96PTo_xMy16dlZh22mez_8zr76lR7zW9dFP2RxPbTB95hZHKeI8TV5aXUX8c3uPCQ3lxfX55_yq--Lz-dnV7kBATxnpSmp5WCQN03DrJCs4kAt0xWgFBzrxnA0UmpZWy2hbQ1thARtGk45beCQnGy7y-D_TBhH1btosOv0gH6KipW0YCVUVZHo8TN676cwpN9tFJQAopJJvdsqE3yMAa1aBtfrsFaMqs3KatmqzcpJvt31pqbH9sn9mzWB0y1YuQ7X_-uoHx93uXyrXRzx75PW4UFVdSqq228LJRbwobgToL7AI7P6lFY</recordid><startdate>201403</startdate><enddate>201403</enddate><creator>Zhou, Yan</creator><creator>Huang, Jin</creator><creator>Cheng, Yvonne Kwun Yue</creator><creator>Leung, Tak Yeung</creator><creator>Pooh, Ritsuko K.</creator><creator>Lo, Fai Man</creator><creator>Choy, Kwong Wai</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</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>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201403</creationdate><title>Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses</title><author>Zhou, Yan ; Huang, Jin ; Cheng, Yvonne Kwun Yue ; Leung, Tak Yeung ; Pooh, Ritsuko K. ; Lo, Fai Man ; Choy, Kwong Wai</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3832-15c50f23ce2bbb1f8916230f1a63e982e7bc2ec99a97fa93ddc0b893acb2020b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Down syndrome</topic><topic>Facies</topic><topic>Female</topic><topic>Fetuses</topic><topic>Hirschsprung Disease - diagnosis</topic><topic>Humans</topic><topic>Intellectual Disability - diagnosis</topic><topic>Microcephaly - diagnosis</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhou, Yan</creatorcontrib><creatorcontrib>Huang, Jin</creatorcontrib><creatorcontrib>Cheng, Yvonne Kwun Yue</creatorcontrib><creatorcontrib>Leung, Tak Yeung</creatorcontrib><creatorcontrib>Pooh, Ritsuko K.</creatorcontrib><creatorcontrib>Lo, Fai Man</creatorcontrib><creatorcontrib>Choy, Kwong Wai</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhou, Yan</au><au>Huang, Jin</au><au>Cheng, Yvonne Kwun Yue</au><au>Leung, Tak Yeung</au><au>Pooh, Ritsuko K.</au><au>Lo, Fai Man</au><au>Choy, Kwong Wai</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2014-03</date><risdate>2014</risdate><volume>34</volume><issue>3</issue><spage>296</spage><epage>298</epage><pages>296-298</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>What's already known about this topic?
Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.
What does this study add?
We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study.
The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect.
The prevalence of MWS in Hong Kong is reported.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>24375696</pmid><doi>10.1002/pd.4292</doi><tpages>3</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 2014-03, Vol.34 (3), p.296-298 |
| issn | 0197-3851 1097-0223 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Down syndrome Facies Female Fetuses Hirschsprung Disease - diagnosis Humans Intellectual Disability - diagnosis Microcephaly - diagnosis Pregnancy Prenatal Diagnosis Young Adult |
| title | Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses |
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