Newly recognized autosomal recessive faciothoracoskeletal syndrome
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 19...
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| Veröffentlicht in: | American journal of medical genetics 1994-01, Vol.49 (2), p.224-228 |
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| container_title | American journal of medical genetics |
| container_volume | 49 |
| creator | Richieri-Costa, A. Guion-Almeida, M. L. Lauris, J. R. P. Ferreira, D. M. |
| description | We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320490213 |
| format | Article |
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We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320490213</identifier><identifier>PMID: 8116673</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - pathology ; autosomal recessive inheritance ; Biological and medical sciences ; Blepharophimosis ; camptodactyly ; case reports ; Child ; Complex syndromes ; Consanguinity ; Face - abnormalities ; faciothoracoskeletal syndrome ; family studies ; Foot Deformities, Congenital ; Funnel Chest ; Genes, Recessive ; Hand Deformities, Congenital ; Humans ; inheritance ; Lumbar Vertebrae - abnormalities ; Male ; man ; Medical genetics ; Medical sciences ; pectus excavatum ; small ears ; Syndrome</subject><ispartof>American journal of medical genetics, 1994-01, Vol.49 (2), p.224-228</ispartof><rights>Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1994 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4423-677fd61cb240baf3c488e114e991440d1b558b95f03ffccd3a7fe0430e2259a3</citedby><cites>FETCH-LOGICAL-c4423-677fd61cb240baf3c488e114e991440d1b558b95f03ffccd3a7fe0430e2259a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3907596$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8116673$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Richieri-Costa, A.</creatorcontrib><creatorcontrib>Guion-Almeida, M. L.</creatorcontrib><creatorcontrib>Lauris, J. R. P.</creatorcontrib><creatorcontrib>Ferreira, D. M.</creatorcontrib><title>Newly recognized autosomal recessive faciothoracoskeletal syndrome</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. 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M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4423-677fd61cb240baf3c488e114e991440d1b558b95f03ffccd3a7fe0430e2259a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Abnormalities, Multiple - pathology</topic><topic>autosomal recessive inheritance</topic><topic>Biological and medical sciences</topic><topic>Blepharophimosis</topic><topic>camptodactyly</topic><topic>case reports</topic><topic>Child</topic><topic>Complex syndromes</topic><topic>Consanguinity</topic><topic>Face - abnormalities</topic><topic>faciothoracoskeletal syndrome</topic><topic>family studies</topic><topic>Foot Deformities, Congenital</topic><topic>Funnel Chest</topic><topic>Genes, Recessive</topic><topic>Hand Deformities, Congenital</topic><topic>Humans</topic><topic>inheritance</topic><topic>Lumbar Vertebrae - abnormalities</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>pectus excavatum</topic><topic>small ears</topic><topic>Syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Richieri-Costa, A.</creatorcontrib><creatorcontrib>Guion-Almeida, M. L.</creatorcontrib><creatorcontrib>Lauris, J. R. P.</creatorcontrib><creatorcontrib>Ferreira, D. M.</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering 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>Richieri-Costa, A.</au><au>Guion-Almeida, M. L.</au><au>Lauris, J. R. P.</au><au>Ferreira, D. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Newly recognized autosomal recessive faciothoracoskeletal syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1994-01-15</date><risdate>1994</risdate><volume>49</volume><issue>2</issue><spage>224</spage><epage>228</epage><pages>224-228</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8116673</pmid><doi>10.1002/ajmg.1320490213</doi><tpages>5</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - pathology autosomal recessive inheritance Biological and medical sciences Blepharophimosis camptodactyly case reports Child Complex syndromes Consanguinity Face - abnormalities faciothoracoskeletal syndrome family studies Foot Deformities, Congenital Funnel Chest Genes, Recessive Hand Deformities, Congenital Humans inheritance Lumbar Vertebrae - abnormalities Male man Medical genetics Medical sciences pectus excavatum small ears Syndrome |
| title | Newly recognized autosomal recessive faciothoracoskeletal syndrome |
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