| dc.contributor | Brambila 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 Cantón, 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.description.abstract | Faciocardiorenal 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). | |
