Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?
We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosom...
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| Veröffentlicht in: | American journal of medical genetics 1992-08, Vol.43 (6), p.946-948 |
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| container_issue | 6 |
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| container_title | American journal of medical genetics |
| container_volume | 43 |
| creator | dos Santos, Rita de Cassia Stocco Castro, Nelson H. C. Ferraz, Oilita Pereira Walter-Moura, Janete Mustachi, Zan Pagnan, Nina A. B. Gollop, Thomaz R. |
| description | We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others. © 1992 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320430608 |
| format | Article |
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A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others. © 1992 Wiley‐Liss, Inc.</description><subject>Anophthalmia</subject><subject>Biological and medical sciences</subject><subject>Bone and Bones - abnormalities</subject><subject>buphthalmos</subject><subject>case reports</subject><subject>Child</subject><subject>Complex syndromes</subject><subject>Consanguinity</subject><subject>Eye Abnormalities - genetics</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>megalocornea</subject><subject>Pedigree</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1v1DAQxS0EKtvCmROSD4gTaf0Vx6EHtKrahWqhB0AgLtbEcbZuHXuxsyr735Mlq1acehpr5vfGo_cQekXJMSWEncBNvzqmnBHBiSTqCZpRUstCSaaeohmhQhUVq-vn6DDnG0Lo2GAH6IAKWnIhZqi_Wl8P1-D76OPKGfDvcL613g67F4QWG0itA4OhCTH14N3gbMYu4OyajJuYAh4iNjFkCKuNCzZuMl5DsmHI7_EcB3uH8za0Kfb2wwv0rAOf7ct9PULfL86_nX0slleLT2fzZWF4LVXRcqDEqoqLtiKGW0M5lK0lJYeOiabuOi4Jr0pZtY0wVJasUYaAYSAZqZqSH6G30951ir83Ng-6d9lY7-HffbriTHFRPQ5SySRjUo3gyQSaFHNOttPr5HpIW02J3iWhd0nohyRGxev96k3T2_aBn6wf52_2c8ij712CYFy-x8pScU7qETudsDvn7faxX_X88vPivyOKSe3yYP_cqyHdalmNDuofXxb618Xl159lzfWS_wWi4rIj</recordid><startdate>19920801</startdate><enddate>19920801</enddate><creator>dos Santos, Rita de Cassia Stocco</creator><creator>Castro, Nelson H. 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B.</au><au>Gollop, Thomaz R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1992-08-01</date><risdate>1992</risdate><volume>43</volume><issue>6</issue><spage>946</spage><epage>948</epage><pages>946-948</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. 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| ispartof | American journal of medical genetics, 1992-08, Vol.43 (6), p.946-948 |
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| language | eng |
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| subjects | Anophthalmia Biological and medical sciences Bone and Bones - abnormalities buphthalmos case reports Child Complex syndromes Consanguinity Eye Abnormalities - genetics Female Genes, Recessive Heart Defects, Congenital - genetics Humans Male man Medical genetics Medical sciences megalocornea Pedigree Syndrome |
| title | Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome? |
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