Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis
We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients p...
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| Veröffentlicht in: | American journal of medical genetics 2003-08, Vol.121A (1), p.41-46 |
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| creator | Vargas, Rosa Andrea Pardo Maegawa, Gustavo Henrique Boff Taucher, Silvia Castillo Leite, Júlio César L. Sanz, Patricia Cifuentes, Juan Parra, Mauro Muñoz, Hernán Maranduba, Carlos Magno Passos‐Bueno, Maria R. |
| description | We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf‐form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene. © 2003 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.20101 |
| format | Article |
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This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf‐form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene. © 2003 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1552-4833</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.a.20101</identifier><identifier>PMID: 12900900</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Beare‐Stevenson syndrome ; Biological and medical sciences ; Brazil ; Chile ; Craniosynostoses - complications ; Craniosynostoses - genetics ; craniosynostosis ; Diseases of the osteoarticular system ; DNA Primers ; Fatal Outcome ; FGFR2 gene ; Humans ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Mutation, Missense - genetics ; Phenotype ; Receptor Protein-Tyrosine Kinases - genetics ; Receptor, Fibroblast Growth Factor, Type 2 ; Receptors, Fibroblast Growth Factor - genetics ; Sequence Analysis, DNA ; Syndrome</subject><ispartof>American journal of medical genetics, 2003-08, Vol.121A (1), p.41-46</ispartof><rights>Copyright © 2003 Wiley‐Liss, Inc.</rights><rights>2003 INIST-CNRS</rights><rights>Copyright 2003 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3941-d35b3eb25bd1bf986c4123fbcb1a354c3035c31a9513c61e7a2471f9cd8941dc3</citedby><cites>FETCH-LOGICAL-c3941-d35b3eb25bd1bf986c4123fbcb1a354c3035c31a9513c61e7a2471f9cd8941dc3</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%2Fajmg.a.20101$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.20101$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15027738$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12900900$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vargas, Rosa Andrea Pardo</creatorcontrib><creatorcontrib>Maegawa, Gustavo Henrique Boff</creatorcontrib><creatorcontrib>Taucher, Silvia Castillo</creatorcontrib><creatorcontrib>Leite, Júlio César L.</creatorcontrib><creatorcontrib>Sanz, Patricia</creatorcontrib><creatorcontrib>Cifuentes, Juan</creatorcontrib><creatorcontrib>Parra, Mauro</creatorcontrib><creatorcontrib>Muñoz, Hernán</creatorcontrib><creatorcontrib>Maranduba, Carlos Magno</creatorcontrib><creatorcontrib>Passos‐Bueno, Maria R.</creatorcontrib><title>Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis</title><title>American journal of medical genetics</title><addtitle>Am J Med Genet A</addtitle><description>We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf‐form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene. © 2003 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Beare‐Stevenson syndrome</subject><subject>Biological and medical sciences</subject><subject>Brazil</subject><subject>Chile</subject><subject>Craniosynostoses - complications</subject><subject>Craniosynostoses - genetics</subject><subject>craniosynostosis</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA Primers</subject><subject>Fatal Outcome</subject><subject>FGFR2 gene</subject><subject>Humans</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Mutation, Missense - genetics</subject><subject>Phenotype</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Receptor, Fibroblast Growth Factor, Type 2</subject><subject>Receptors, Fibroblast Growth Factor - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Syndrome</subject><issn>1552-4825</issn><issn>0148-7299</issn><issn>1552-4833</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0MlOwzAQBmALgSgUbpxRLnCixWPHWbiVipalCAnK2Zo4DqTKUuyUKjcegWfkSUhpRG8gWRpr9M2M9BNyBLQPlLJznOUvfewzChS2yB4IwXpuwPn275-JDtm3dkYpp8L3dkkHWEhp8_bI3aVGo78-Pp8q_a4LWxaOrYvYlLm-cKbL0rHlonp1MNcmVVg4c6xSXVTWWaZNezQePTIHC8xqm9oDspNgZvVhW7vkeXQ1HV73Jg_jm-Fg0lM8dKEXcxFxHTERxRAlYeApFxhPIhUBcuEqTrlQHDAUwJUH2kfm-pCEKg6a8VjxLjld752b8m2hbSXz1CqdZVjocmGlzwUTHrj_QkYD3wdBG3i2hsqU1hqdyLlJczS1BCpXKctVyhLlT8oNP273LqJcxxvcxtqAkxagVZglBguV2o0TlPk-DxrH126ZZrr-86gc3N6P1-e_AYcUlYE</recordid><startdate>20030815</startdate><enddate>20030815</enddate><creator>Vargas, Rosa Andrea Pardo</creator><creator>Maegawa, Gustavo Henrique Boff</creator><creator>Taucher, Silvia Castillo</creator><creator>Leite, Júlio César L.</creator><creator>Sanz, Patricia</creator><creator>Cifuentes, Juan</creator><creator>Parra, Mauro</creator><creator>Muñoz, Hernán</creator><creator>Maranduba, Carlos Magno</creator><creator>Passos‐Bueno, Maria R.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030815</creationdate><title>Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis</title><author>Vargas, Rosa Andrea Pardo ; Maegawa, Gustavo Henrique Boff ; Taucher, Silvia Castillo ; Leite, Júlio César L. ; Sanz, Patricia ; Cifuentes, Juan ; Parra, Mauro ; Muñoz, Hernán ; Maranduba, Carlos Magno ; Passos‐Bueno, Maria R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3941-d35b3eb25bd1bf986c4123fbcb1a354c3035c31a9513c61e7a2471f9cd8941dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Beare‐Stevenson syndrome</topic><topic>Biological and medical sciences</topic><topic>Brazil</topic><topic>Chile</topic><topic>Craniosynostoses - complications</topic><topic>Craniosynostoses - genetics</topic><topic>craniosynostosis</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA Primers</topic><topic>Fatal Outcome</topic><topic>FGFR2 gene</topic><topic>Humans</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Mutation, Missense - genetics</topic><topic>Phenotype</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Receptor, Fibroblast Growth Factor, Type 2</topic><topic>Receptors, Fibroblast Growth Factor - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vargas, Rosa Andrea Pardo</creatorcontrib><creatorcontrib>Maegawa, Gustavo Henrique Boff</creatorcontrib><creatorcontrib>Taucher, Silvia Castillo</creatorcontrib><creatorcontrib>Leite, Júlio César L.</creatorcontrib><creatorcontrib>Sanz, Patricia</creatorcontrib><creatorcontrib>Cifuentes, Juan</creatorcontrib><creatorcontrib>Parra, Mauro</creatorcontrib><creatorcontrib>Muñoz, Hernán</creatorcontrib><creatorcontrib>Maranduba, Carlos Magno</creatorcontrib><creatorcontrib>Passos‐Bueno, Maria R.</creatorcontrib><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</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>Vargas, Rosa Andrea Pardo</au><au>Maegawa, Gustavo Henrique Boff</au><au>Taucher, Silvia Castillo</au><au>Leite, Júlio César L.</au><au>Sanz, Patricia</au><au>Cifuentes, Juan</au><au>Parra, Mauro</au><au>Muñoz, Hernán</au><au>Maranduba, Carlos Magno</au><au>Passos‐Bueno, Maria R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am J Med Genet A</addtitle><date>2003-08-15</date><risdate>2003</risdate><volume>121A</volume><issue>1</issue><spage>41</spage><epage>46</epage><pages>41-46</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf‐form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene. © 2003 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12900900</pmid><doi>10.1002/ajmg.a.20101</doi><tpages>6</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Beare‐Stevenson syndrome Biological and medical sciences Brazil Chile Craniosynostoses - complications Craniosynostoses - genetics craniosynostosis Diseases of the osteoarticular system DNA Primers Fatal Outcome FGFR2 gene Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mutation, Missense - genetics Phenotype Receptor Protein-Tyrosine Kinases - genetics Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor - genetics Sequence Analysis, DNA Syndrome |
| title | Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis |
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