Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/41436
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dc.contributor.authorBrambila Tapia, A.J.L.
dc.contributor.authorVasquez Velasquez, A.I.
dc.contributor.authorGonzalez Mercado, M.G.
dc.contributor.authorMacIas Chumacera, A.
dc.contributor.authorGutierrez-Amavizca, B.E.
dc.contributor.authorLara Aguilar, R.A.
dc.contributor.authorPerez Juarez Canton, R.
dc.contributor.authorMoreno Andrade, A.
dc.contributor.authorFiguera, L.E.
dc.date.accessioned2015-09-15T17:57:18Z-
dc.date.available2015-09-15T17:57:18Z-
dc.date.issued2012
dc.identifier.urihttp://hdl.handle.net/20.500.12104/41436-
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-84860279842&partnerID=40&md5=a6ae3d0c486f48fc9558c266ed58f741
dc.identifier.urihttp://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=medl&AN=22611642
dc.description.abstractFaciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay. Associated anomalies were: plagiocephaly, broad halluces, nail hypoplasia, cryptorchidism, diastasis recti, and adducted thumbs. Focal seizures in the mouth were also observed. The radiographs revealed advanced bone age and metaphyseal widening of femur and tibia. FCRS has an unknown etiology with only three reported cases so far (since 1977). We report a patient with the main features of FCRS but without the renal component, suggesting that this entity can present a wide clinical spectrum. Based on these findings and on the few previously reported cases with a highly variable phenotype when compared with the original report, we suggest that FCRS should be further clinical delineated according to the following leading anomalies: endocardial fibroelastosis, unusual facial appearance and mental retardation, in order to find more cases that allow a wider clinical description and the identification of the genetic defect(s).
dc.relation.isreferencedbyScopus
dc.relation.isreferencedbyMEDLINE
dc.relation.isreferencedbyWOS
dc.titleFaciocardiorenal syndrome: A wide clinical spectrum?
dc.typeArticle
dc.relation.ispartofjournalGenetic Counseling
dc.relation.ispartofvolume23
dc.relation.ispartofissue1
dc.relation.ispartofpage51
dc.relation.ispartofpage56
dc.subject.keywordEastman-Bixler syndrome; Endocardial fibroelastosis; Faciocardiorenal syndrome
dc.contributor.affiliationBrambila Tapia, A.J.L., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico, División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; Vásquez Velásquez, A.I., División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; González Mercado, M.G., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico, División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; Macías Chumacera, A., Instituto Nacional de Cardiología Dr. Ignacio Chávez, México D.F., Mexico; Gutiérrez-Amavizca, B.E., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico, División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; Lara Aguilar, R.A., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico, División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; Pérez Juárez Cantún, R., División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; Moreno Andrade, A., División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico; Figuera, L.E., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico, División de Genética, CIBO-IMSS, Sierra Mojada #800, Colonia Independencia, Guadalajara Jalisco, CP 44100, Mexico
dc.subject.headingIndex Medicus;Abnormalities, Multiple/di [Diagnosis];Cleft Palate/di [Diagnosis];Endocardial Fibroelastosis/di [Diagnosis];Face/ab [Abnormalities];Heart Defects, Congenital/di [Diagnosis];Humans;Infant;Kidney/ab [Abnormalities];Male
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