Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients
The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo‐cheilo‐dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropio...
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| Veröffentlicht in: | American journal of medical genetics 1999-07, Vol.85 (2), p.157-159 |
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| creator | VALDEZ-DE LA TORRE, M. H QUINTANA-GARCIA, M CANUN, S |
| description | The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo‐cheilo‐dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene. Am. J. Med. Genet. 85:157–159, 1999. © 1999 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(19990716)85:2<157::AID-AJMG10>3.0.CO;2-A |
| format | Article |
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Genet. 85:157–159, 1999. © 1999 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19990716)85:2<157::AID-AJMG10>3.0.CO;2-A</identifier><identifier>PMID: 10406669</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; Blepharophimosis - genetics ; Child ; Cleft Lip - genetics ; cleft lip/palate ; Cleft Palate - genetics ; Complex syndromes ; congenital ectropion ; euryblepharon ; Eye Abnormalities - genetics ; Facies ; Female ; Humans ; hypodontia ; lagophthalmia ; Male ; Medical genetics ; Medical sciences ; megaloblepharon ; Mexico ; oligodontia ; Phenotype ; Syndrome ; Tropical medicine</subject><ispartof>American journal of medical genetics, 1999-07, Vol.85 (2), p.157-159</ispartof><rights>Copyright © 1999 Wiley‐Liss, Inc.</rights><rights>1999 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c5040-fe8f1954e67a962cd71156b4e5b89cc0351276a4c5f1d47e0048eaaeb2c872a03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1865209$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10406669$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>VALDEZ-DE LA TORRE, M. H</creatorcontrib><creatorcontrib>QUINTANA-GARCIA, M</creatorcontrib><creatorcontrib>CANUN, S</creatorcontrib><title>Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo‐cheilo‐dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene. Am. J. Med. Genet. 85:157–159, 1999. © 1999 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>Blepharophimosis - genetics</subject><subject>Child</subject><subject>Cleft Lip - genetics</subject><subject>cleft lip/palate</subject><subject>Cleft Palate - genetics</subject><subject>Complex syndromes</subject><subject>congenital ectropion</subject><subject>euryblepharon</subject><subject>Eye Abnormalities - genetics</subject><subject>Facies</subject><subject>Female</subject><subject>Humans</subject><subject>hypodontia</subject><subject>lagophthalmia</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>megaloblepharon</subject><subject>Mexico</subject><subject>oligodontia</subject><subject>Phenotype</subject><subject>Syndrome</subject><subject>Tropical medicine</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF1v0zAUhi0EYmXwF1AuEGovXGwn_ipsokuhFDqKtCHQbo5cx9EMaVLiVFv_PYlSBhJIXFk6fs57Xj0IvaZkTAlhL4YXi3QxokQLrARTQ6q1JpKKkeIT9opyOZlMFzM8fX8-p-Q0HpNxunrJ8PQeGtwt3UcDQhOFJdP6CD0K4RshtB2wh-iIkoQIIfQAnZwVbntt6grba-eLCmdV2XgbDc_S2SgK-zKrq42LfBk1N1V07m69NWW0NY13ZRMeowe5KYJ7cniP0ee3by7Td3i5mi_S6RJb3l7CuVM51TxxQhotmM0kpVysE8fXSltLYk6ZFCaxPKdZIh0hiXLGuDWzSjJD4mP0vM_d1tWPnQsNbHywrihM6apdAKGVFpSrFvzag7auQqhdDtvab0y9B0qgUwvQqYXOEnSW4JdaUBwYtGoBWrXQq4UYCKSr9mPaRj89dNitNy77I7h32QLPDoAJ1hR5bUrrw29OCc5Ih1312I0v3P6vfv-t9892h0kbjvtwHxp3exdu6u8gZCw5fPk4h4sZ-SSWHy7hKv4JrtqvXA</recordid><startdate>19990716</startdate><enddate>19990716</enddate><creator>VALDEZ-DE LA TORRE, M. 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H ; QUINTANA-GARCIA, M ; CANUN, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5040-fe8f1954e67a962cd71156b4e5b89cc0351276a4c5f1d47e0048eaaeb2c872a03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Biological and medical sciences</topic><topic>Blepharophimosis - genetics</topic><topic>Child</topic><topic>Cleft Lip - genetics</topic><topic>cleft lip/palate</topic><topic>Cleft Palate - genetics</topic><topic>Complex syndromes</topic><topic>congenital ectropion</topic><topic>euryblepharon</topic><topic>Eye Abnormalities - genetics</topic><topic>Facies</topic><topic>Female</topic><topic>Humans</topic><topic>hypodontia</topic><topic>lagophthalmia</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>megaloblepharon</topic><topic>Mexico</topic><topic>oligodontia</topic><topic>Phenotype</topic><topic>Syndrome</topic><topic>Tropical medicine</topic><toplevel>online_resources</toplevel><creatorcontrib>VALDEZ-DE LA TORRE, M. H</creatorcontrib><creatorcontrib>QUINTANA-GARCIA, M</creatorcontrib><creatorcontrib>CANUN, S</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>VALDEZ-DE LA TORRE, M. H</au><au>QUINTANA-GARCIA, M</au><au>CANUN, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1999-07-16</date><risdate>1999</risdate><volume>85</volume><issue>2</issue><spage>157</spage><epage>159</epage><pages>157-159</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo‐cheilo‐dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. Ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene. Am. J. Med. 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| subjects | Biological and medical sciences Blepharophimosis - genetics Child Cleft Lip - genetics cleft lip/palate Cleft Palate - genetics Complex syndromes congenital ectropion euryblepharon Eye Abnormalities - genetics Facies Female Humans hypodontia lagophthalmia Male Medical genetics Medical sciences megaloblepharon Mexico oligodontia Phenotype Syndrome Tropical medicine |
| title | Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients |
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