Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis)
A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and...
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| Veröffentlicht in: | American journal of medical genetics 1985-07, Vol.21 (3), p.439-444 |
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| container_end_page | 444 |
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| container_issue | 3 |
| container_start_page | 439 |
| container_title | American journal of medical genetics |
| container_volume | 21 |
| creator | Elejalde, B. Rafael De Elejalde, Maria Mercedes Booth, Carol Kaye, Celia Hollison, Lynne Opitz, John M. Reynolds, James F. |
| description | A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis. |
| doi_str_mv | 10.1002/ajmg.1320210305 |
| format | Article |
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Rafael ; De Elejalde, Maria Mercedes ; Booth, Carol ; Kaye, Celia ; Hollison, Lynne ; Opitz, John M. ; Reynolds, James F.</creator><creatorcontrib>Elejalde, B. Rafael ; De Elejalde, Maria Mercedes ; Booth, Carol ; Kaye, Celia ; Hollison, Lynne ; Opitz, John M. ; Reynolds, James F.</creatorcontrib><description>A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320210305</identifier><identifier>PMID: 3895927</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; autosomal recessive inheritance ; Biological and medical sciences ; Female ; Fibula - abnormalities ; Fingers - abnormalities ; Genes, Recessive ; Gynecology. Andrology. Obstetrics ; Humans ; hydronephrosis ; Hydronephrosis - diagnosis ; Hydronephrosis - genetics ; Male ; Management. Prenatal diagnosis ; Medical sciences ; Pregnancy ; Pregnancy. Fetus. Placenta ; Prenatal Diagnosis ; skeletal dysplasia ; Syndrome ; Toes - abnormalities ; Ulna - abnormalities ; ulnar ray deficiency ; Ultrasonography ; Weyers oligodactyly syndrome</subject><ispartof>American journal of medical genetics, 1985-07, Vol.21 (3), p.439-444</ispartof><rights>Copyright © 1985 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1986 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4115-dff99f77a99c312a75e0a479dfad2ce4c687334506a1d101b0c1dffb6b4c54d23</citedby><cites>FETCH-LOGICAL-c4115-dff99f77a99c312a75e0a479dfad2ce4c687334506a1d101b0c1dffb6b4c54d23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8539151$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3895927$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Elejalde, B. Rafael</creatorcontrib><creatorcontrib>De Elejalde, Maria Mercedes</creatorcontrib><creatorcontrib>Booth, Carol</creatorcontrib><creatorcontrib>Kaye, Celia</creatorcontrib><creatorcontrib>Hollison, Lynne</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis)</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis.</description><subject>Adult</subject><subject>autosomal recessive inheritance</subject><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Fibula - abnormalities</subject><subject>Fingers - abnormalities</subject><subject>Genes, Recessive</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>hydronephrosis</subject><subject>Hydronephrosis - diagnosis</subject><subject>Hydronephrosis - genetics</subject><subject>Male</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis</subject><subject>skeletal dysplasia</subject><subject>Syndrome</subject><subject>Toes - abnormalities</subject><subject>Ulna - abnormalities</subject><subject>ulnar ray deficiency</subject><subject>Ultrasonography</subject><subject>Weyers oligodactyly syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtvEzEURi0EKqGwZoXkBUKwmNaP8XisrkpEAqg8VIEqsbHu-NG4zCPYMyrz73GUKIgVK1u-53y--hB6TskZJYSdw113e0Y5I4wSTsQDtKBEVUVdsfohWhBa1oVkSj1GT1K6I4TmB3aCTnithGJygfzX6HoYocU2wG0_pJDw4PGNm11MOM29jUPn8GvrfDDB9SOe2h4iht5iH5qpzfcIc8L3YdzgJrQwupjTNnMWe7fdxF3km6fokYc2uWeH8xR9X737tnxfXH1Zf1heXhWmpFQU1nulvJSglOGUgRSOQCmV9WCZcaWpasl5KUgF1FJCG2JodpqqKY0oLeOn6NU-dxuHX5NLo-5CMq5toXfDlLSsmBAlLTN4vgdNXjBF5_U2hg7irCnRu2b1rln9t9lsvDhET03n7JE_VJnnLw9zSAZaH6E3IR2xWnBFBc3YxR67D62b__ervvz4af3PEsXeDml0v482xJ-6klwKffN5rX-I69Xb61Wtl_wPe0WjRQ</recordid><startdate>198507</startdate><enddate>198507</enddate><creator>Elejalde, B. 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Rafael ; De Elejalde, Maria Mercedes ; Booth, Carol ; Kaye, Celia ; Hollison, Lynne ; Opitz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4115-dff99f77a99c312a75e0a479dfad2ce4c687334506a1d101b0c1dffb6b4c54d23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Adult</topic><topic>autosomal recessive inheritance</topic><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Fibula - abnormalities</topic><topic>Fingers - abnormalities</topic><topic>Genes, Recessive</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>hydronephrosis</topic><topic>Hydronephrosis - diagnosis</topic><topic>Hydronephrosis - genetics</topic><topic>Male</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>skeletal dysplasia</topic><topic>Syndrome</topic><topic>Toes - abnormalities</topic><topic>Ulna - abnormalities</topic><topic>ulnar ray deficiency</topic><topic>Ultrasonography</topic><topic>Weyers oligodactyly syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Elejalde, B. Rafael</creatorcontrib><creatorcontrib>De Elejalde, Maria Mercedes</creatorcontrib><creatorcontrib>Booth, Carol</creatorcontrib><creatorcontrib>Kaye, Celia</creatorcontrib><creatorcontrib>Hollison, Lynne</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</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>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Elejalde, B. Rafael</au><au>De Elejalde, Maria Mercedes</au><au>Booth, Carol</au><au>Kaye, Celia</au><au>Hollison, Lynne</au><au>Opitz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis)</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1985-07</date><risdate>1985</risdate><volume>21</volume><issue>3</issue><spage>439</spage><epage>444</epage><pages>439-444</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>3895927</pmid><doi>10.1002/ajmg.1320210305</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | American journal of medical genetics, 1985-07, Vol.21 (3), p.439-444 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Adult autosomal recessive inheritance Biological and medical sciences Female Fibula - abnormalities Fingers - abnormalities Genes, Recessive Gynecology. Andrology. Obstetrics Humans hydronephrosis Hydronephrosis - diagnosis Hydronephrosis - genetics Male Management. Prenatal diagnosis Medical sciences Pregnancy Pregnancy. Fetus. Placenta Prenatal Diagnosis skeletal dysplasia Syndrome Toes - abnormalities Ulna - abnormalities ulnar ray deficiency Ultrasonography Weyers oligodactyly syndrome |
| title | Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis) |
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