Congenital alacrima in a patient with G (Opitz Frias) syndrome
Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old...
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| Veröffentlicht in: | Human genetics 1996-04, Vol.97 (4), p.540-542 |
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| container_title | Human genetics |
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| creator | DUNDAR, M ERKILIC, K DEMIRYILMAZ, F KÜCÜKAYDIN, M KENDIRCI, M OKUR, H KAZEZ, A |
| description | Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima. |
| doi_str_mv | 10.1007/BF02267083 |
| format | Article |
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The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF02267083</identifier><identifier>PMID: 8834259</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Abnormalities, Multiple ; Biological and medical sciences ; Child, Preschool ; Esophagus - abnormalities ; Face - abnormalities ; Humans ; Lacrimal Apparatus - abnormalities ; Larynx - abnormalities ; Male ; Malformations of the eye ; Medical sciences ; Ophthalmology ; Syndrome</subject><ispartof>Human genetics, 1996-04, Vol.97 (4), p.540-542</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c342t-9c7e13cef2e1c88a91b0e446cebb0aab045480582ec39464711f6e2983f5ee8c3</citedby><cites>FETCH-LOGICAL-c342t-9c7e13cef2e1c88a91b0e446cebb0aab045480582ec39464711f6e2983f5ee8c3</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=3003259$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8834259$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DUNDAR, M</creatorcontrib><creatorcontrib>ERKILIC, K</creatorcontrib><creatorcontrib>DEMIRYILMAZ, F</creatorcontrib><creatorcontrib>KÜCÜKAYDIN, M</creatorcontrib><creatorcontrib>KENDIRCI, M</creatorcontrib><creatorcontrib>OKUR, H</creatorcontrib><creatorcontrib>KAZEZ, A</creatorcontrib><title>Congenital alacrima in a patient with G (Opitz Frias) syndrome</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.</description><subject>Abnormalities, Multiple</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Esophagus - abnormalities</subject><subject>Face - abnormalities</subject><subject>Humans</subject><subject>Lacrimal Apparatus - abnormalities</subject><subject>Larynx - abnormalities</subject><subject>Male</subject><subject>Malformations of the eye</subject><subject>Medical sciences</subject><subject>Ophthalmology</subject><subject>Syndrome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLw0AUhQdRaq1u3AuzEFEheueVmWwELbYKhW50HSbTGx3Jy0yK1F9vSoMuXd3F-TiH-xFyyuCGAejbhxlwHmswYo-MmRQ8YhzEPhmDkBDFmulDchTCBwBTCVcjMjJGSK6SMbmb1tUbVr6zBbWFda0vLfUVtbSxnceqo1--e6dzerlsfPdNZ6234YqGTbVq6xKPyUFui4Anw52Q19njy_QpWiznz9P7ReT6nS5KnEYmHOYcmTPGJiwDlDJ2mGVgbQZSSQPKcHQikbHUjOUx8sSIXCEaJybkYtfbtPXnGkOXlj44LApbYb0OqTZCK67FvyBTvYHEsB683oGurUNoMU-b7e_tJmWQbq2mf1Z7-GxoXWclrn7RQWOfnw-5Dc4WeWsr58MvJgDEFvsBU2l8NQ</recordid><startdate>19960401</startdate><enddate>19960401</enddate><creator>DUNDAR, M</creator><creator>ERKILIC, K</creator><creator>DEMIRYILMAZ, F</creator><creator>KÜCÜKAYDIN, M</creator><creator>KENDIRCI, M</creator><creator>OKUR, H</creator><creator>KAZEZ, A</creator><general>Springer</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19960401</creationdate><title>Congenital alacrima in a patient with G (Opitz Frias) syndrome</title><author>DUNDAR, M ; ERKILIC, K ; DEMIRYILMAZ, F ; KÜCÜKAYDIN, M ; KENDIRCI, M ; OKUR, H ; KAZEZ, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-9c7e13cef2e1c88a91b0e446cebb0aab045480582ec39464711f6e2983f5ee8c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Abnormalities, Multiple</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Esophagus - abnormalities</topic><topic>Face - abnormalities</topic><topic>Humans</topic><topic>Lacrimal Apparatus - abnormalities</topic><topic>Larynx - abnormalities</topic><topic>Male</topic><topic>Malformations of the eye</topic><topic>Medical sciences</topic><topic>Ophthalmology</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DUNDAR, M</creatorcontrib><creatorcontrib>ERKILIC, K</creatorcontrib><creatorcontrib>DEMIRYILMAZ, F</creatorcontrib><creatorcontrib>KÜCÜKAYDIN, M</creatorcontrib><creatorcontrib>KENDIRCI, M</creatorcontrib><creatorcontrib>OKUR, H</creatorcontrib><creatorcontrib>KAZEZ, A</creatorcontrib><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DUNDAR, M</au><au>ERKILIC, K</au><au>DEMIRYILMAZ, F</au><au>KÜCÜKAYDIN, M</au><au>KENDIRCI, M</au><au>OKUR, H</au><au>KAZEZ, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital alacrima in a patient with G (Opitz Frias) syndrome</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1996-04-01</date><risdate>1996</risdate><volume>97</volume><issue>4</issue><spage>540</spage><epage>542</epage><pages>540-542</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. 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| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1996-04, Vol.97 (4), p.540-542 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Abnormalities, Multiple Biological and medical sciences Child, Preschool Esophagus - abnormalities Face - abnormalities Humans Lacrimal Apparatus - abnormalities Larynx - abnormalities Male Malformations of the eye Medical sciences Ophthalmology Syndrome |
| title | Congenital alacrima in a patient with G (Opitz Frias) syndrome |
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