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Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome
We describe two independent cases of Brachmann‐de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third...
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| Published in: | Prenatal diagnosis 2002-02, Vol.22 (2), p.144-147 |
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| cites | cdi_FETCH-LOGICAL-c4431-1f9eee8a5c37467e29e91b2834c3ab321d487a66b13f50bc16d1f0922fd6ba553 |
| container_end_page | 147 |
| container_issue | 2 |
| container_start_page | 144 |
| container_title | Prenatal diagnosis |
| container_volume | 22 |
| creator | Marino, Teresa Wheeler, Patricia G. Simpson, Lynn L. Craigo, Sabrina D. Bianchi, Diana W. |
| description | We describe two independent cases of Brachmann‐de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright © 2002 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.281 |
| format | article |
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In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright © 2002 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.281</identifier><identifier>PMID: 11857622</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; alpha-Fetoproteins - analysis ; Biological and medical sciences ; Brachmann-de Lange syndrome ; Chorionic Gonadotropin - blood ; De Lange Syndrome - diagnosis ; De Lange Syndrome - genetics ; diaphragmatic hernia ; Estriol - blood ; Fatal Outcome ; Female ; Fetal Growth Retardation - complications ; Gynecology. Andrology. Obstetrics ; Hand Deformities, Congenital - diagnosis ; Hernia, Diaphragmatic - complications ; Hernia, Diaphragmatic - diagnostic imaging ; Humans ; Limb Deformities, Congenital - diagnosis ; Malformations of the nervous system ; Management. Prenatal diagnosis ; Medical sciences ; Neurology ; oligodactyly ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy. Fetus. Placenta ; Prenatal Diagnosis ; prenatal ultrasonography ; syndactyly ; ulnar hypoplasia ; Ultrasonography, Prenatal</subject><ispartof>Prenatal diagnosis, 2002-02, Vol.22 (2), p.144-147</ispartof><rights>Copyright © 2002 John Wiley & Sons, Ltd.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2002 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4431-1f9eee8a5c37467e29e91b2834c3ab321d487a66b13f50bc16d1f0922fd6ba553</citedby><cites>FETCH-LOGICAL-c4431-1f9eee8a5c37467e29e91b2834c3ab321d487a66b13f50bc16d1f0922fd6ba553</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13507265$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11857622$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Marino, Teresa</creatorcontrib><creatorcontrib>Wheeler, Patricia G.</creatorcontrib><creatorcontrib>Simpson, Lynn L.</creatorcontrib><creatorcontrib>Craigo, Sabrina D.</creatorcontrib><creatorcontrib>Bianchi, Diana W.</creatorcontrib><title>Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>We describe two independent cases of Brachmann‐de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright © 2002 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>alpha-Fetoproteins - analysis</subject><subject>Biological and medical sciences</subject><subject>Brachmann-de Lange syndrome</subject><subject>Chorionic Gonadotropin - blood</subject><subject>De Lange Syndrome - diagnosis</subject><subject>De Lange Syndrome - genetics</subject><subject>diaphragmatic hernia</subject><subject>Estriol - blood</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Fetal Growth Retardation - complications</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Hand Deformities, Congenital - diagnosis</subject><subject>Hernia, Diaphragmatic - complications</subject><subject>Hernia, Diaphragmatic - diagnostic imaging</subject><subject>Humans</subject><subject>Limb Deformities, Congenital - diagnosis</subject><subject>Malformations of the nervous system</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>oligodactyly</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, Second</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis</subject><subject>prenatal ultrasonography</subject><subject>syndactyly</subject><subject>ulnar hypoplasia</subject><subject>Ultrasonography, Prenatal</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><recordid>eNp10E1PGzEQBmALtSqBtj-h8qVIHBb8sbZ3jy0QqBTaSrRC4mLN2rOJYb9qZ1Xy71mUqDn1NDPSo5nRS8hHzs44Y-J88Gei4AdkxllpMiaEfENmjE-9LBQ_JEcpPU6uEKV5Rw45L5TRQszI_RzX0FAfYFhFWLawDo6uMHYBKHSejsOAkTahraaxb6EJmGgal0tMa_o1glu10HWZR7qAbok0bTof-xbfk7c1NAk_7Oox-T2_-nVxky1-XH-7-LLIXJ5LnvG6RMQClJMm1wZFiSWvRCFzJ6GSgvu8MKB1xWWtWOW49rxmpRC11xUoJY_JyXbvEPs_4_SUbUNy2DTQYT8ma3hujMzlHrrYpxSxtkMMLcSN5cy-RmgHb6cIJ_hpt3GsWvR7tstsAp93AJKDpo7QuZD2TipmhH597XTr_oYGN_85Z39ebo9mWxvSGp__WYhPVhtplL3_fm313cNdOZe3VskXPUOUiA</recordid><startdate>200202</startdate><enddate>200202</enddate><creator>Marino, Teresa</creator><creator>Wheeler, Patricia G.</creator><creator>Simpson, Lynn L.</creator><creator>Craigo, Sabrina D.</creator><creator>Bianchi, Diana W.</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>200202</creationdate><title>Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome</title><author>Marino, Teresa ; Wheeler, Patricia G. ; Simpson, Lynn L. ; Craigo, Sabrina D. ; Bianchi, Diana W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4431-1f9eee8a5c37467e29e91b2834c3ab321d487a66b13f50bc16d1f0922fd6ba553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>alpha-Fetoproteins - analysis</topic><topic>Biological and medical sciences</topic><topic>Brachmann-de Lange syndrome</topic><topic>Chorionic Gonadotropin - blood</topic><topic>De Lange Syndrome - diagnosis</topic><topic>De Lange Syndrome - genetics</topic><topic>diaphragmatic hernia</topic><topic>Estriol - blood</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Fetal Growth Retardation - complications</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Hand Deformities, Congenital - diagnosis</topic><topic>Hernia, Diaphragmatic - complications</topic><topic>Hernia, Diaphragmatic - diagnostic imaging</topic><topic>Humans</topic><topic>Limb Deformities, Congenital - diagnosis</topic><topic>Malformations of the nervous system</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Neurology</topic><topic>oligodactyly</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, Second</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>prenatal ultrasonography</topic><topic>syndactyly</topic><topic>ulnar hypoplasia</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Marino, Teresa</creatorcontrib><creatorcontrib>Wheeler, Patricia G.</creatorcontrib><creatorcontrib>Simpson, Lynn L.</creatorcontrib><creatorcontrib>Craigo, Sabrina D.</creatorcontrib><creatorcontrib>Bianchi, Diana W.</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>Marino, Teresa</au><au>Wheeler, Patricia G.</au><au>Simpson, Lynn L.</au><au>Craigo, Sabrina D.</au><au>Bianchi, Diana W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2002-02</date><risdate>2002</risdate><volume>22</volume><issue>2</issue><spage>144</spage><epage>147</epage><pages>144-147</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>We describe two independent cases of Brachmann‐de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright © 2002 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11857622</pmid><doi>10.1002/pd.281</doi><tpages>4</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 2002-02, Vol.22 (2), p.144-147 |
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| language | eng |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult alpha-Fetoproteins - analysis Biological and medical sciences Brachmann-de Lange syndrome Chorionic Gonadotropin - blood De Lange Syndrome - diagnosis De Lange Syndrome - genetics diaphragmatic hernia Estriol - blood Fatal Outcome Female Fetal Growth Retardation - complications Gynecology. Andrology. Obstetrics Hand Deformities, Congenital - diagnosis Hernia, Diaphragmatic - complications Hernia, Diaphragmatic - diagnostic imaging Humans Limb Deformities, Congenital - diagnosis Malformations of the nervous system Management. Prenatal diagnosis Medical sciences Neurology oligodactyly Pregnancy Pregnancy Trimester, Second Pregnancy. Fetus. Placenta Prenatal Diagnosis prenatal ultrasonography syndactyly ulnar hypoplasia Ultrasonography, Prenatal |
| title | Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome |
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