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Ítem 18p-syndrome: Presentation of two cases with alobar holoprosencenphaly(Colombia Médica, 2010-10-01) Pachajoa Londoño, Harry Mauricio; Isaza, Carolina; Saldarriaga, WilmarIntroduction: The syndrome by deletion of the short arm of chromosome 18 is an infrequent syndrome, and its phenotypical variability makes it difficult to recognize. Its most frequently observed clinical characteristics include mental retardation, growth retardation, craniofacial malformations, including long ears, microcephaly and short neck; other less frequent associated malformations include holoprosencephaly. Case report: We present two patients with deletion of the short arm of chromosome 18, one presented a de no vo muta tion and the other was produced by a balanced translocation 6p/18p of maternal origin. Both patients presented alobar holoprosencephaly and cebocephaly, low-frequency clinical characteristics in this syndrome. Discussion: alobar holoprosencephaly is a malformation appearing in 10% of patients with deletion of the short arm of chromosome 18; we review the probable physiopathology of holoprosencephaly in this syndrome. © 2010 Universidad del Valle, Facultad de Salud.Ítem A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.(BioMed Central Ltd., 2014-06-13) Ruiz Botero, FelipeMicrocephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100cm, a post-pubertal head circumference of 40cm or less, mild mental retardation, an outgoing personality and bone dysplasia. Case presentation. We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. Conclusion: The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases. © 2014 Pachajoa et al.; licensee BioMed Central Ltd.Ítem La acondroplasia entre las poblaciones antiguas de mesoamérica y sudamérica: Evidencia iconográfica y arqueológica(Universidad del Valle, 2012-07-30) Pachajoa Londoño, Harry MauricioIntroducción: La acondroplasia es la forma más frecuente de enanismo. Los individuos presentan acortamiento rizomélico de las extremidades, facies característica con prominencia frontal, hipoplasia media de la cara, genu varo, y la mano tridente. Aunque la etiología de esta enfermedad fue reportada en 1994, evidencia de la existencia esta enfermedad se ha encontrado en poblaciones del antiguo Egipto (2500 aC) y ha sido documentada en poblaciones americanas antiguas. Objetivo: Analizar la presencia de personas con acondroplasia en la sociedad del estado maya de México y Guatemala, durante el período clásico (100- 950 aC ) y postclásico ( 950 a 1519 aC ), del mismo modo, en la sociedad de Tumaco-la Tolita (300 aC - 600 dC) de la costa del Pacífico entre Colombia y Ecuador, y el Estado y la sociedad Moche (100- 600 aC ) de la costa norte del Perú. Métodos: Se realizaron estudios iconográficos y clínico morfológico de algunas de las representaciones artísticas más importantes de las personas de talla baja en estas tres culturas. Conclusiones: Se presenta la hipótesis de que los individuos con talla baja se asociaban de alguna manera con la élite del poder político y religioso.Ítem Embarazo De Gemelo Acárdico Coexistente Con Gemelo Anencefálico, Asociado A Exposición A Varicela En El Primer Trimestre: Reporte de caso y revisión de la literatura(Colombiana de Obstetricia y Ginecología, 2010-10-01) Tabares, KatherineIntroduction: an acardiac twin is a congenital malformation having low prevalence (1 in 35,000) births and is found in about 1 in every 100 monozygotic twins. The association of an acardiac twin with a second twin having greater malformations occurs in around 10% of cases. This article was aimed at reporting a case having very low prevalence and a review of the literature published about the etiology and physiopathology associated with acardiac anomaly, as well as the congenital anomalies associated with it and infection by the chicken pox virus. Materials and methods: the case of monochorionicdiamniotic twin pregnancy involving an acardius mylacephalus twin and a second anencephalic twin is presented, the mother having been exposed to chicken pox during the first trimester of pregnancy. G-band kariot yping showed 46 XY having no structural abnormalities. A search was made of the literature published during the last 10 years in the PubMed, Ovid and HINARI databases. Conclusion: the importance of this report lies in the fact that only one report of the association of acardiac twin coexisting with anencephalic twin was found in the pertinent literature. This is also the first report of the relationship between this combination of greater malformations in twin pregnancy and exposure to chicken pox during the first trimester of pregnancy.Ítem Vascular disruption birth defects are not associated to chromosomal alterations(Asociación Mexicana de Ginecología y Obstetricia, 2015-11-01) Méndez, FabiánAntecedentes: 2 a 3% de los recién nacidos tienen un defecto congénito; algunos de los debidos a disrupción vascular no se relacionan con alteraciones cromosómicas detectadas por cariotipo convencional. Objetivo: determinar, en pacientes con defectos por disrupción vascular de una población colombiana, la frecuencia de alteraciones cromosómicas detectadas por cariotipo bandeo G de alta resolución. Material y método: estudio transversal efectuado en una muestra de pacientes identificados por el sistema de vigilancia de defectos congénitos en un hospital de referencia de Cali, Colombia. Resultados: en un periodo de 36 meses se identificaron 41 casos con defectos por disrupción vascular. Los más frecuentes fueron: reducción transversal, hidranencefalia y gastrosquisis. En la evaluación independiente por dos citogenetistas expertos, en ninguna de las muestras se identificaron alteraciones cromosómicas por medio del cariotipo con bandeo G. Conclusiones: se recomienda que la asesoría genética a los casos de defectos por disrupción vascular se efectúe teniendo en cuenta los riesgos de recurrencia empíricos reportados para cada de uno los tipos de defectos por disrupción vascular y el uso del cariotipo debe limitarse a los casos con otras malformaciones o sospecha de alteración cromosómica por el fenotipo.