Holoprosencephaly: A developmental field defect
Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a develop...
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| Veröffentlicht in: | American journal of medical genetics 1989-10, Vol.34 (2), p.258-264 |
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| container_title | American journal of medical genetics |
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| creator | Johnson, Virginia P. |
| description | Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hyptelorism, bifid uvula, of potuitary deficiency. |
| doi_str_mv | 10.1002/ajmg.1320340228 |
| format | Article |
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Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hyptelorism, bifid uvula, of potuitary deficiency.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320340228</identifier><identifier>PMID: 2629725</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - diagnostic imaging ; Abnormalities, Multiple - genetics ; Biological and medical sciences ; Brain - abnormalities ; Brain - diagnostic imaging ; craniofacial malformations ; etiologic heterogeneity ; Facial Bones - abnormalities ; Female ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Male ; Malformations of the nervous system ; Medical sciences ; Neurology ; Pedigree ; Radionuclide Imaging ; single central maxillary incisor ; Skull - abnormalities ; Syndrome ; Tomography Scanners, X-Ray Computed</subject><ispartof>American journal of medical genetics, 1989-10, Vol.34 (2), p.258-264</ispartof><rights>Copyright © 1989 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1990 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4118-13af40fb2a28e3e53da3701859afcb0f2fd50da3942a98447deca7ba5bf8cc053</citedby><cites>FETCH-LOGICAL-c4118-13af40fb2a28e3e53da3701859afcb0f2fd50da3942a98447deca7ba5bf8cc053</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=6611667$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2629725$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Johnson, Virginia P.</creatorcontrib><title>Holoprosencephaly: A developmental field defect</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hyptelorism, bifid uvula, of potuitary deficiency.</description><subject>Abnormalities, Multiple - diagnostic imaging</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>Brain - abnormalities</subject><subject>Brain - diagnostic imaging</subject><subject>craniofacial malformations</subject><subject>etiologic heterogeneity</subject><subject>Facial Bones - abnormalities</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Malformations of the nervous system</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Radionuclide Imaging</subject><subject>single central maxillary incisor</subject><subject>Skull - abnormalities</subject><subject>Syndrome</subject><subject>Tomography Scanners, X-Ray Computed</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFT89PwjAUbowGET17MuHgddC-bmunJ0J0aAAvGhMvzVvX6nCDZcUf_PeWjGA8eXrJ9-t9HyHnjA4YpTDERfU6YBwoDymAPCBdRpM4kDHIQ9KlLJSBgCQ5JifOLShlHoAO6UAMiYCoS4aTVbmqm5UzS23qNyw3V_1RPzefxsOVWa6x7NvClLnHrNHrU3JksXTmbHd75On25nE8CaYP6d14NA10yJgMGEcbUpsBgjTcRDxHLiiTUYJWZ9SCzSPqsSQETGQYitxoFBlGmZVa04j3yLDN1b6ba4xVdVNU2GwUo2q7XG2Xq9_l3nHROuqPrDL5Xr-b6vnLHY9OY2kbXOrC7WVxzFgcCy-7bmVfRWk2_31Vo_tZ-qdE0LoLtzbfezc278pni0g9z1P1kgLMRDpXU_4DW22BVA</recordid><startdate>198910</startdate><enddate>198910</enddate><creator>Johnson, Virginia P.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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></search><sort><creationdate>198910</creationdate><title>Holoprosencephaly: A developmental field defect</title><author>Johnson, Virginia P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4118-13af40fb2a28e3e53da3701859afcb0f2fd50da3942a98447deca7ba5bf8cc053</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Abnormalities, Multiple - diagnostic imaging</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>Brain - abnormalities</topic><topic>Brain - diagnostic imaging</topic><topic>craniofacial malformations</topic><topic>etiologic heterogeneity</topic><topic>Facial Bones - abnormalities</topic><topic>Female</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Malformations of the nervous system</topic><topic>Medical sciences</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Radionuclide Imaging</topic><topic>single central maxillary incisor</topic><topic>Skull - abnormalities</topic><topic>Syndrome</topic><topic>Tomography Scanners, X-Ray Computed</topic><toplevel>online_resources</toplevel><creatorcontrib>Johnson, Virginia P.</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><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Johnson, Virginia P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Holoprosencephaly: A developmental field defect</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1989-10</date><risdate>1989</risdate><volume>34</volume><issue>2</issue><spage>258</spage><epage>264</epage><pages>258-264</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hyptelorism, bifid uvula, of potuitary deficiency.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>2629725</pmid><doi>10.1002/ajmg.1320340228</doi><tpages>7</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1989-10, Vol.34 (2), p.258-264 |
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| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Biological and medical sciences Brain - abnormalities Brain - diagnostic imaging craniofacial malformations etiologic heterogeneity Facial Bones - abnormalities Female Genetic Testing Humans Infant Infant, Newborn Male Malformations of the nervous system Medical sciences Neurology Pedigree Radionuclide Imaging single central maxillary incisor Skull - abnormalities Syndrome Tomography Scanners, X-Ray Computed |
| title | Holoprosencephaly: A developmental field defect |
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