Ultrasound prenatal diagnosis of the Nail-Patella syndrome
The Nail–Patella syndrome (NPS) is an autosomal dominant connective‐tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems. The presence of the posterior iliac horns is path...
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| Veröffentlicht in: | Prenatal diagnosis 1998-08, Vol.18 (8), p.854-856 |
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| container_title | Prenatal diagnosis |
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| creator | Feingold, Michael Itzchak, Yacov Goodman, Richard M. |
| description | The Nail–Patella syndrome (NPS) is an autosomal dominant connective‐tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems.
The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 per cent of cases. In this report, we present the first case of prenatal diagnosis of NPS by ultrasound. The possible kidney involvement, combined with other, milder, complications make the prenatal diagnosis of this syndrome worthwhile. © 1998 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/(SICI)1097-0223(199808)18:8<854::AID-PD343>3.0.CO;2-S |
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The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 per cent of cases. In this report, we present the first case of prenatal diagnosis of NPS by ultrasound. The possible kidney involvement, combined with other, milder, complications make the prenatal diagnosis of this syndrome worthwhile. © 1998 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/(SICI)1097-0223(199808)18:8<854::AID-PD343>3.0.CO;2-S</identifier><identifier>PMID: 9742578</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Biological and medical sciences ; Female ; Gestational Age ; Gynecology. Andrology. Obstetrics ; Humans ; Management. Prenatal diagnosis ; Medical sciences ; Nail-Patella ; Nail-Patella Syndrome - diagnostic imaging ; Pregnancy. Fetus. Placenta ; prenatal diagnosis ; Ultrasonography, Prenatal ; ultrasound</subject><ispartof>Prenatal diagnosis, 1998-08, Vol.18 (8), p.854-856</ispartof><rights>Copyright © 1998 John Wiley & Sons, Ltd.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F%28SICI%291097-0223%28199808%2918%3A8%3C854%3A%3AAID-PD343%3E3.0.CO%3B2-S$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291097-0223%28199808%2918%3A8%3C854%3A%3AAID-PD343%3E3.0.CO%3B2-S$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2343533$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9742578$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Feingold, Michael</creatorcontrib><creatorcontrib>Itzchak, Yacov</creatorcontrib><creatorcontrib>Goodman, Richard M.</creatorcontrib><title>Ultrasound prenatal diagnosis of the Nail-Patella syndrome</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>The Nail–Patella syndrome (NPS) is an autosomal dominant connective‐tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems.
The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 per cent of cases. In this report, we present the first case of prenatal diagnosis of NPS by ultrasound. The possible kidney involvement, combined with other, milder, complications make the prenatal diagnosis of this syndrome worthwhile. © 1998 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Gestational Age</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Nail-Patella</subject><subject>Nail-Patella Syndrome - diagnostic imaging</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>prenatal diagnosis</subject><subject>Ultrasonography, Prenatal</subject><subject>ultrasound</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkFtP2zAYhi00xMrhJyDlYprgIsWHOLa7gYTSAZUqilRgl5_cxNky0qTYqaD_fg6pcgMSsmRb3-HRqwehc4KHBGN6djKfJJNTgpUIMaXshCglsTwlciR_Sh6NRpeTcXg3ZhG7YEM8TGY_aDjfQYN-4wsaYOL_THLyFe07989jJVViD-0pEVEu5ACNHsrGalevqyxYWVPpRpdBVug_Ve0KF9R50Pw1wa0uyvBON6YsdeA2VWbrpTlEu7kunTnavgfo4erXfXITTmfXk-RyGqYs4izMjIllGomM5LliWsaxkoSInEWxr0glhb850f4YmhG6ELmISSyN3xOLDLMD9L3jrmz9vDaugWXh0jZKZeq1A8EUiZRgrA-Q2to5a3JY2WKp7QYIhtYpQOsUWkPQGoLOKRAJ_vAIwDuFN6fAAEMyAwpzzz3eBlgvlibrqVuJvv9t29cu1WVudZUWrh-jHsdZG--xG3spSrN5l-2TaB8l6woeHHbgwjXmtQdr-wSxYILD79trkFN-P57exD7OfwWfrEs</recordid><startdate>199808</startdate><enddate>199808</enddate><creator>Feingold, Michael</creator><creator>Itzchak, Yacov</creator><creator>Goodman, Richard M.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</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>7X8</scope></search><sort><creationdate>199808</creationdate><title>Ultrasound prenatal diagnosis of the Nail-Patella syndrome</title><author>Feingold, Michael ; Itzchak, Yacov ; Goodman, Richard M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3453-dee68c47d1ff93a86698117f3461ff8987ff851a1a1e2d12b7f76168eee67bd03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Gestational Age</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Nail-Patella</topic><topic>Nail-Patella Syndrome - diagnostic imaging</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>prenatal diagnosis</topic><topic>Ultrasonography, Prenatal</topic><topic>ultrasound</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Feingold, Michael</creatorcontrib><creatorcontrib>Itzchak, Yacov</creatorcontrib><creatorcontrib>Goodman, Richard M.</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>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Feingold, Michael</au><au>Itzchak, Yacov</au><au>Goodman, Richard M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ultrasound prenatal diagnosis of the Nail-Patella syndrome</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1998-08</date><risdate>1998</risdate><volume>18</volume><issue>8</issue><spage>854</spage><epage>856</epage><pages>854-856</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>The Nail–Patella syndrome (NPS) is an autosomal dominant connective‐tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems.
The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 per cent of cases. In this report, we present the first case of prenatal diagnosis of NPS by ultrasound. The possible kidney involvement, combined with other, milder, complications make the prenatal diagnosis of this syndrome worthwhile. © 1998 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>9742578</pmid><doi>10.1002/(SICI)1097-0223(199808)18:8<854::AID-PD343>3.0.CO;2-S</doi><tpages>3</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 1998-08, Vol.18 (8), p.854-856 |
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| language | eng |
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| subjects | Adult Biological and medical sciences Female Gestational Age Gynecology. Andrology. Obstetrics Humans Management. Prenatal diagnosis Medical sciences Nail-Patella Nail-Patella Syndrome - diagnostic imaging Pregnancy. Fetus. Placenta prenatal diagnosis Ultrasonography, Prenatal ultrasound |
| title | Ultrasound prenatal diagnosis of the Nail-Patella syndrome |
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