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Ítem Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene(Sociedad Española de Neurología, 2016-12-09) Mejia, L.La deleción del 17p13.3, incluyendo el gen PAFAH1B1 o LIS1, se asocia a malformaciones cerebrales tipo lisencefalia; caracterizada por reducción de giros y adelgazamiento cortical, sin embargo existen fenotipos variables que van desde lisencefalia aislada hasta síndrome de Miller-Dieker (SMD) (MM: 247200)1. Descrito por primera vez por Miller en 1963 como una condición genética con una expresión clínica variable, el cual puede ser causado por diferentes anormalidades genéticas tales como: deleción, duplicación, síndrome de genes contiguos y mutación del gen PAFAH1B12. Por tal razón la combinación de fenotipos es frecuente y es posible encontrar microdeleciones de la región 17p13.3 en ausencia de lisencefalia implicando que la expresión del gen PAFAH1B1 es normal3.Ítem Doble aneuploidía (trisomía X, trisomía 18) en una recién nacida con fenotipo de trisomía 18(2013-07-01) Pachajoa Londoño, Harry MauricioWe report the case of a newborn girl with a double trisomy, with a chromosome complement 48, XXX,+ 18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.Ítem Mosaic trisomy 13 and a sacral appendage(2013-07-31) Pachajoa Londoño, Harry MauricioMosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur. The phenotype of mosaic trisomy 13 patients varies widely. Patients with mosaic trisomy 13 usually have a longer survival and a less severe phenotype compared to patients with complete trisomy 13. Genetic counselling is difficult due to the wide variation among the clinical manifestations of these patients. There have been 49 cases of mosaic trisomy 13 reported in the literature. We report the case of a patient with mosaic trisomy 13, a sacral appendage and a cleft lip and palate. Copyright 2013 BMJ Publishing Group. All rights reserved.Ítem Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)(2012-05-24) Isaza, CarolinaRecently the Journal published a sireno melia and a cyclopia cluster in Cali, a city located on the Colombian pacific coast. The clusters were colleted and analyzed by the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) [Castilla et al., 2008]. The sirenomelia cluster occurred in a period of 55 days from September 12, 2004 to February 2, 2005; in thes time 1,064 babies were born and, of these, four cases presented with this rare disorder. The cluster if cyclopedia occurred in a period of 170 days between December 4,2004 and May 23, 2005; in this period 3,594 births occurred [Castilla et al., 2008; Orioli et al., 2009]. We present a case of sirenomelia with cyclopia in Cali. This case was born in June 2008 and was after the cluster.Ítem Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.(Cambridge University Press, 2014-06-01) Hernandez Amaris, María F.Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.Ítem Artrogriposis múltiple congénita en gemelo monocoriónico biamniótico. Reporte de caso y revisión de la literatura(Sociedad Colombiana De Obstetricia y Ginecologia, 2009-01-01) Pachajoa Londoño, Harry MauricioLa artrogriposis múltiple congénita es un grupo de desórdenes musculoesqueléticos de muy rara aparición, caracterizados por contractu - ras múltiples articulares, en los que se afectan los músculos de los miembros superiores, inferiores y del dorso. La etiología de esta condición permanece desconocida y muchos agentes causales han sido implicados, particularmente infecciones virales y condiciones restrictivas intrauterinas. Objetivo: aportar a la literatura un caso de artrogriposis múltiple congénita (AMC) en un embarazo gemelar monocoriónico biamniótico, y revisar la etiología y fisiopatogenia de esta malformación congénita. Presentación del caso: en el segundo gemelo de sexo masculino, con un peso de 1345 g, se observó acortamiento de las cuatro extremidades de todos Revista Colombiana de Obstetricia y Ginecología, Vol. 60, No. 1 - 200Ítem Cyclopia with synophthalmia in a 27 weeks old fetus(Sociedad Ecuatoriana de Neurologia, 2010-01-01) Pachajoa Londoño, Harry MauricioCyclopia is a rare congenital malformation which is non-compatible with life, is characterized by the presence of a single eye in a central positional, secondary to alobar holoporsencephaly. The cyclopia is of heterogeneous etiology, and has a prevalence of 1,05 per 100.000 births. We report a case of cyclopia with synophthalmia in a fetus at 24 weeks.Ítem Síndrome de Down y sindactilia(Pontificia Universidad Javeriana, 2011-01-10) Pachajoa Londoño, Harry MauricioPaciente de 8 años, hijo de madre de 41 años y 19 años al momento de la concepción, quien asiste a control. Al examen físico se encuentra paciente con fenotipo de síndrome de Down (SD) y sindactilia cutánea que compromete la totalidad del tercer y cuarto dedo bilateral y clinodactilia del quinto dedo, trae radiografía de manos donde se evidencia sindactilia ósea de falanges proximales del tercer y cuarto dedo bi-lateral. Adicionalmente los estudios para cardiopatía son negativos y tiene un cariotipo donde se reporta una trisomia 21 libre.Ítem Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient(Wiley-Blackwell, 2016-11-01) Ramirez-Botero, Andrés FelipeSyndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.Ítem Prevalencia de defectos congénitos en Risaralda, 2010-2013(Instituto Nacional de Salud, 2016-12-01) Montoya, Juan JoséIntroduction: The data regarding birth defects at local levels in developing countries like Colombia are scarce. Objective: To describe the profile of congenital abnormalities in the province of Risaralda, Colombia. Materials and methods: We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations. We analyzed the data using Stata 10 (R). Results: We found a prevalence of nine defects per 1,000 newborns from the total live births in Risaralda. The local clinic registered in the Collaborative Study of Congenital Malformations registered a prevalence of 34 defects per 1,000 births. Most frequent defects were heart defects, followed by cleft lip and palate, abdominal wall defects, skeletal dysplasia, hydrocephalus, polydactyly and Down syndrome.