Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings
Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-wee...
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| Veröffentlicht in: | Gene 2012-05, Vol.499 (1), p.223-225 |
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| creator | Peraita-Ezcurra, Milena Martínez-García, Mónica Ruiz-Pérez, Víctor L. Sánchez-Gutiérrez, María Eugenia Fenollar-Cortés, María Vélez-Monsalve, Camilo Ramos-Corrales, Carmen Pastor, Ignacio Santonja, Carlos Trujillo-Tiebas, María José |
| description | Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.
► EvC syndrome: characterized by chondroectodermal dysplasia and postaxial polydactyly. ► Only 300 cases of EvC syndrome have been reported worldwide. ► This condition has been found to be associated with EVC and EVC2 mutations. ► All the clinical information is essential to arrive at a correct diagnosis in fetuses. |
| doi_str_mv | 10.1016/j.gene.2012.02.030 |
| format | Article |
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► EvC syndrome: characterized by chondroectodermal dysplasia and postaxial polydactyly. ► Only 300 cases of EvC syndrome have been reported worldwide. ► This condition has been found to be associated with EVC and EVC2 mutations. ► All the clinical information is essential to arrive at a correct diagnosis in fetuses.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2012.02.030</identifier><identifier>PMID: 22406498</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adult ; Autopsy ; Bone Diseases, Developmental - complications ; Bone Diseases, Developmental - diagnosis ; Bone Diseases, Developmental - genetics ; Bone Diseases, Developmental - pathology ; case studies ; Clinico-pathological approach ; counseling ; DNA ; Ellis-van Creveld syndrome ; Ellis-Van Creveld Syndrome - complications ; Ellis-Van Creveld Syndrome - diagnosis ; Ellis-Van Creveld Syndrome - genetics ; Ellis-Van Creveld Syndrome - pathology ; EVC2 gene ; Female ; Femur - abnormalities ; Femur - pathology ; Fetal Diseases - diagnosis ; Fetal Diseases - genetics ; Fetal Diseases - pathology ; Fetus ; genes ; genetic techniques and protocols ; Genetic Testing ; Gestational Age ; heart diseases ; Humans ; Humerus - abnormalities ; Humerus - pathology ; mutation ; parents ; Polydactyly ; Polydactyly - complications ; Polydactyly - diagnosis ; Polydactyly - genetics ; Polydactyly - pathology ; Pregnancy ; Prenatal Diagnosis - methods ; teeth ; ultrasonics</subject><ispartof>Gene, 2012-05, Vol.499 (1), p.223-225</ispartof><rights>2012 Elsevier B.V.</rights><rights>Copyright © 2012 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c295t-13a1f3c2c6dba2672d61c987c1669db0574b2f19c6c81d2c1c802f15ccfe77bd3</citedby><cites>FETCH-LOGICAL-c295t-13a1f3c2c6dba2672d61c987c1669db0574b2f19c6c81d2c1c802f15ccfe77bd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.gene.2012.02.030$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27911,27912,45982</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22406498$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Peraita-Ezcurra, Milena</creatorcontrib><creatorcontrib>Martínez-García, Mónica</creatorcontrib><creatorcontrib>Ruiz-Pérez, Víctor L.</creatorcontrib><creatorcontrib>Sánchez-Gutiérrez, María Eugenia</creatorcontrib><creatorcontrib>Fenollar-Cortés, María</creatorcontrib><creatorcontrib>Vélez-Monsalve, Camilo</creatorcontrib><creatorcontrib>Ramos-Corrales, Carmen</creatorcontrib><creatorcontrib>Pastor, Ignacio</creatorcontrib><creatorcontrib>Santonja, Carlos</creatorcontrib><creatorcontrib>Trujillo-Tiebas, María José</creatorcontrib><title>Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings</title><title>Gene</title><addtitle>Gene</addtitle><description>Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.
► EvC syndrome: characterized by chondroectodermal dysplasia and postaxial polydactyly. ► Only 300 cases of EvC syndrome have been reported worldwide. ► This condition has been found to be associated with EVC and EVC2 mutations. ► All the clinical information is essential to arrive at a correct diagnosis in fetuses.</description><subject>Adult</subject><subject>Autopsy</subject><subject>Bone Diseases, Developmental - complications</subject><subject>Bone Diseases, Developmental - diagnosis</subject><subject>Bone Diseases, Developmental - genetics</subject><subject>Bone Diseases, Developmental - pathology</subject><subject>case studies</subject><subject>Clinico-pathological approach</subject><subject>counseling</subject><subject>DNA</subject><subject>Ellis-van Creveld syndrome</subject><subject>Ellis-Van Creveld Syndrome - complications</subject><subject>Ellis-Van Creveld Syndrome - diagnosis</subject><subject>Ellis-Van Creveld Syndrome - genetics</subject><subject>Ellis-Van Creveld Syndrome - pathology</subject><subject>EVC2 gene</subject><subject>Female</subject><subject>Femur - abnormalities</subject><subject>Femur - pathology</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - genetics</subject><subject>Fetal Diseases - pathology</subject><subject>Fetus</subject><subject>genes</subject><subject>genetic techniques and protocols</subject><subject>Genetic Testing</subject><subject>Gestational Age</subject><subject>heart diseases</subject><subject>Humans</subject><subject>Humerus - abnormalities</subject><subject>Humerus - pathology</subject><subject>mutation</subject><subject>parents</subject><subject>Polydactyly</subject><subject>Polydactyly - complications</subject><subject>Polydactyly - diagnosis</subject><subject>Polydactyly - genetics</subject><subject>Polydactyly - pathology</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis - methods</subject><subject>teeth</subject><subject>ultrasonics</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kd-K1DAUxoso7rj6Al5oLr2wNUmnaQveyLD-gQVB3euQnpx2MmSSMcmM1JfyFU3t6qXhQDjh9305nK8onjNaMcrEm0M1ocOKU8YrmqumD4oN69q-pLTuHhYbWrddyRjrr4onMR5oPk3DHxdXnG-p2Pbdpvh1Y62J5UU5sgt4QatJnJ0O_ojEOKLIiOkcyQ-T9iTszc_8bo0iymly8nbWCtJs54p8wZMPifgxS0BFJNqoyfmImgwzWeZMBrJM2Tma-PqPAfgQ0KpkvFs_OKm099ZPBpRdiKC0WXsyGqeNm-LT4tGobMRn9_d1cff-5tvuY3n7-cOn3bvbEnjfpJLVio01cBB6UFy0XAsGfdcCE6LXA23a7cBH1oOAjmkODDqa-wZgxLYddH1dvFp9T8F_P2NM8mgioLXKoT9HyShlfSNEKzLKVxSCjzHgKE_BHFWYMySXoORBLguQS1CS5qppFr249z8PR9T_JH-TycDLFRiVl2oKJsq7r9mhySHmWJsmE29XAvMeLgaDjGDQAWoTEJLU3vxvgt-s2rGV</recordid><startdate>20120510</startdate><enddate>20120510</enddate><creator>Peraita-Ezcurra, Milena</creator><creator>Martínez-García, Mónica</creator><creator>Ruiz-Pérez, Víctor L.</creator><creator>Sánchez-Gutiérrez, María Eugenia</creator><creator>Fenollar-Cortés, María</creator><creator>Vélez-Monsalve, Camilo</creator><creator>Ramos-Corrales, Carmen</creator><creator>Pastor, Ignacio</creator><creator>Santonja, Carlos</creator><creator>Trujillo-Tiebas, María José</creator><general>Elsevier B.V</general><scope>FBQ</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>20120510</creationdate><title>Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings</title><author>Peraita-Ezcurra, Milena ; Martínez-García, Mónica ; Ruiz-Pérez, Víctor L. ; Sánchez-Gutiérrez, María Eugenia ; Fenollar-Cortés, María ; Vélez-Monsalve, Camilo ; Ramos-Corrales, Carmen ; Pastor, Ignacio ; Santonja, Carlos ; Trujillo-Tiebas, María José</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c295t-13a1f3c2c6dba2672d61c987c1669db0574b2f19c6c81d2c1c802f15ccfe77bd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Autopsy</topic><topic>Bone Diseases, Developmental - complications</topic><topic>Bone Diseases, Developmental - diagnosis</topic><topic>Bone Diseases, Developmental - genetics</topic><topic>Bone Diseases, Developmental - pathology</topic><topic>case studies</topic><topic>Clinico-pathological approach</topic><topic>counseling</topic><topic>DNA</topic><topic>Ellis-van Creveld syndrome</topic><topic>Ellis-Van Creveld Syndrome - complications</topic><topic>Ellis-Van Creveld Syndrome - diagnosis</topic><topic>Ellis-Van Creveld Syndrome - genetics</topic><topic>Ellis-Van Creveld Syndrome - pathology</topic><topic>EVC2 gene</topic><topic>Female</topic><topic>Femur - abnormalities</topic><topic>Femur - pathology</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - genetics</topic><topic>Fetal Diseases - pathology</topic><topic>Fetus</topic><topic>genes</topic><topic>genetic techniques and protocols</topic><topic>Genetic Testing</topic><topic>Gestational Age</topic><topic>heart diseases</topic><topic>Humans</topic><topic>Humerus - abnormalities</topic><topic>Humerus - pathology</topic><topic>mutation</topic><topic>parents</topic><topic>Polydactyly</topic><topic>Polydactyly - complications</topic><topic>Polydactyly - diagnosis</topic><topic>Polydactyly - genetics</topic><topic>Polydactyly - pathology</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis - methods</topic><topic>teeth</topic><topic>ultrasonics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Peraita-Ezcurra, Milena</creatorcontrib><creatorcontrib>Martínez-García, Mónica</creatorcontrib><creatorcontrib>Ruiz-Pérez, Víctor L.</creatorcontrib><creatorcontrib>Sánchez-Gutiérrez, María Eugenia</creatorcontrib><creatorcontrib>Fenollar-Cortés, María</creatorcontrib><creatorcontrib>Vélez-Monsalve, Camilo</creatorcontrib><creatorcontrib>Ramos-Corrales, Carmen</creatorcontrib><creatorcontrib>Pastor, Ignacio</creatorcontrib><creatorcontrib>Santonja, Carlos</creatorcontrib><creatorcontrib>Trujillo-Tiebas, María José</creatorcontrib><collection>AGRIS</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>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Peraita-Ezcurra, Milena</au><au>Martínez-García, Mónica</au><au>Ruiz-Pérez, Víctor L.</au><au>Sánchez-Gutiérrez, María Eugenia</au><au>Fenollar-Cortés, María</au><au>Vélez-Monsalve, Camilo</au><au>Ramos-Corrales, Carmen</au><au>Pastor, Ignacio</au><au>Santonja, Carlos</au><au>Trujillo-Tiebas, María José</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2012-05-10</date><risdate>2012</risdate><volume>499</volume><issue>1</issue><spage>223</spage><epage>225</epage><pages>223-225</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><abstract>Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.
► EvC syndrome: characterized by chondroectodermal dysplasia and postaxial polydactyly. ► Only 300 cases of EvC syndrome have been reported worldwide. ► This condition has been found to be associated with EVC and EVC2 mutations. ► All the clinical information is essential to arrive at a correct diagnosis in fetuses.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>22406498</pmid><doi>10.1016/j.gene.2012.02.030</doi><tpages>3</tpages></addata></record> |
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| subjects | Adult Autopsy Bone Diseases, Developmental - complications Bone Diseases, Developmental - diagnosis Bone Diseases, Developmental - genetics Bone Diseases, Developmental - pathology case studies Clinico-pathological approach counseling DNA Ellis-van Creveld syndrome Ellis-Van Creveld Syndrome - complications Ellis-Van Creveld Syndrome - diagnosis Ellis-Van Creveld Syndrome - genetics Ellis-Van Creveld Syndrome - pathology EVC2 gene Female Femur - abnormalities Femur - pathology Fetal Diseases - diagnosis Fetal Diseases - genetics Fetal Diseases - pathology Fetus genes genetic techniques and protocols Genetic Testing Gestational Age heart diseases Humans Humerus - abnormalities Humerus - pathology mutation parents Polydactyly Polydactyly - complications Polydactyly - diagnosis Polydactyly - genetics Polydactyly - pathology Pregnancy Prenatal Diagnosis - methods teeth ultrasonics |
| title | Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings |
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