Autosomal recessive inheritance of Nager acrofacial dysostosis
Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presentin...
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| Veröffentlicht in: | Journal of medical genetics 1988-04, Vol.25 (4), p.230-232 |
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| container_title | Journal of medical genetics |
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| creator | Chemke, J Mogilner, B M Ben-Itzhak, I Zurkowski, L Ophir, D |
| description | Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered. |
| doi_str_mv | 10.1136/jmg.25.4.230 |
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Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.25.4.230</identifier><identifier>PMID: 3367347</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; Diseases of the osteoarticular system ; Female ; Genes, Recessive ; Genetic Variation ; Humans ; Infant, Newborn ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Mandibulofacial Dysostosis - genetics ; Medical sciences ; Research Article ; Syndrome</subject><ispartof>Journal of medical genetics, 1988-04, Vol.25 (4), p.230-232</ispartof><rights>1988 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Apr 1988</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b665t-f2c9906fa69f32a439de866e42b91c0bef15a0f0a603d18f75dec948d95774063</citedby><cites>FETCH-LOGICAL-b665t-f2c9906fa69f32a439de866e42b91c0bef15a0f0a603d18f75dec948d95774063</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015502/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015502/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7597018$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3367347$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chemke, J</creatorcontrib><creatorcontrib>Mogilner, B M</creatorcontrib><creatorcontrib>Ben-Itzhak, I</creatorcontrib><creatorcontrib>Zurkowski, L</creatorcontrib><creatorcontrib>Ophir, D</creatorcontrib><title>Autosomal recessive inheritance of Nager acrofacial dysostosis</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><addtitle>J Med Genet</addtitle><description>Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.</description><subject>Biological and medical sciences</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Genetic Variation</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Mandibulofacial Dysostosis - genetics</subject><subject>Medical sciences</subject><subject>Research Article</subject><subject>Syndrome</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0c9rFDEUB_AgSl2rN6_CgqIenPXl9-RSKIvdFUoF0R68hEwm2WadmdRkptj_3sguWxWhpxzeJy9574vQcwwLjKl4v-03C8IXbEEoPEAzzERdCcLYQzQDIKQiXNHH6EnOWwBMJRZH6IhSISmTM3RyOo0xx9508-SsyzncuHkYrlwKoxmsm0c_vzAbl-bGpuiNDUW2tznmci3kp-iRN112z_bnMfp69uHLcl2df1p9XJ6eV40QfKw8sUqB8EYoT4lhVLWuFsIx0ihsoXEecwMejADa4tpL3jqrWN0qLiUDQY_Rya7v9dT0rrVuGJPp9HUKvUm3Opqg_64M4Upv4o3GgDkHUhq83jdI8cfk8qj7kK3rOjO4OGUtawJCKHEvxBy4IlQV-PIfuI1TGsoWNJYSuAQseVHvdqpsL-fk_OHPGPTv-HSJTxOumS7xFf7izzkPeJ9Xqb_a1022pvOpZBTygUmuyrN1YdWOhTy6n4eySd916SO5vrhc6rPV58tv65XS6-Lf7HzTb-_74Ns7eTfw_-gv3tPLPw</recordid><startdate>19880401</startdate><enddate>19880401</enddate><creator>Chemke, J</creator><creator>Mogilner, B M</creator><creator>Ben-Itzhak, I</creator><creator>Zurkowski, L</creator><creator>Ophir, D</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</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>K9.</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19880401</creationdate><title>Autosomal recessive inheritance of Nager acrofacial dysostosis</title><author>Chemke, J ; Mogilner, B M ; Ben-Itzhak, I ; Zurkowski, L ; Ophir, D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b665t-f2c9906fa69f32a439de866e42b91c0bef15a0f0a603d18f75dec948d95774063</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Biological and medical sciences</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Genetic Variation</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Mandibulofacial Dysostosis - genetics</topic><topic>Medical sciences</topic><topic>Research Article</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chemke, J</creatorcontrib><creatorcontrib>Mogilner, B M</creatorcontrib><creatorcontrib>Ben-Itzhak, I</creatorcontrib><creatorcontrib>Zurkowski, L</creatorcontrib><creatorcontrib>Ophir, D</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>ProQuest Health & Medical Complete (Alumni)</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chemke, J</au><au>Mogilner, B M</au><au>Ben-Itzhak, I</au><au>Zurkowski, L</au><au>Ophir, D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autosomal recessive inheritance of Nager acrofacial dysostosis</atitle><jtitle>Journal of medical genetics</jtitle><stitle>J Med Genet</stitle><addtitle>J Med Genet</addtitle><date>1988-04-01</date><risdate>1988</risdate><volume>25</volume><issue>4</issue><spage>230</spage><epage>232</epage><pages>230-232</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>3367347</pmid><doi>10.1136/jmg.25.4.230</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 1988-04, Vol.25 (4), p.230-232 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Biological and medical sciences Diseases of the osteoarticular system Female Genes, Recessive Genetic Variation Humans Infant, Newborn Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Mandibulofacial Dysostosis - genetics Medical sciences Research Article Syndrome |
| title | Autosomal recessive inheritance of Nager acrofacial dysostosis |
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