Craniofacial microsomia (CFM, OMIM: 164210), also known as the oculo-auriculo-vertebral spectrum, hemifacial microsomia, or Goldenhar syndrome, is typically characterized by uni-or bilateral microtia and mandibular hypoplasia in addition to ocular, vertebral, and renal abnormalities (Gorlin, Cohen, & Hennekam, 2001; Heike & Hing, 2009). CFM, like other complex diseases, usually occurs sporadically. In multiplex families, the transmission is usually autosomal dominant, often with incomplete penetrance, although autosomal recessive inheritance has also been postulated for some families (Rollnick & Kaye, 1983; Vendramini-Pittoli & Kokitsu-Nakata, 2009). It is associated with high
Introduction The prognosis of congenital anomalies (CAs) can be improved if detected and treated accurately. Given the complexity of some anomalies, it is almost always necessary to approach them with an interdisciplinary team. Our objective was to contact patients with congenital urological anomalies (CUAs) and follow them up during their first years of life and evaluate their clinical status, as well as their social and health care limitations. Method Based on the Bogota Congenital Malformations Surveillance Program (BCMSP), we have contacted by phone all the patients with CUAs and evaluated their follow-up. We have included all the registered patients from 2006 until 2015. A standardized questionnaire was applied by a trained staff. The questions assessed on each call included: evaluation of the clinical status of the patient, the clinical treatments and evaluations performed by clinical and surgical subspecialties, health care limitations, and social barriers. The first call was made at the 2nd month, then every 3 months during the 1st year and every 6 months thereafter. Results A total of 277 patients were contacted, 97.3% of whom have an increased risk of mortality or significant disability. The malformation related mortality was of 38.1%. Only 38.7% of the patients were evaluated by a specialist, while 57.4% where still waiting to be seen by a specialist. Ninety eight percent of the limitations related to the health care system were the long waiting lists to be seen by a specialist. Conclusion Many of the pathologies that we have found belong to the group that has a significant reduction in mortality when treated accurately and promptly. However, we have a profound problem in our health care system, in that many of the patients have not been seen by a specialist, which results in a worse prognosis and recovery rate.
Birth defects are structural or functional defects present at birth and are caused by different factors that affect intrauterine development. They are the second most common cause of death under five years of age in Latin America and the Caribbean. In Bogotá and Cali, Colombia, there are two surveillance programs established to evaluate the prevalence of them. The purpose of the following article is to describe the experience and results of the surveillance of the Birth Defects Surveillance Programs in Bogotá and Cali, Colombia, 2002-2019. The information was taken from the surveillance programs that have an active hospital system in some institutions of the city (ECLAMC modality), and use data from the passive national system (Sistema Nacional de Vigilancia en Salud Pública -SIVIGILA) to expand their coverage. From 2002 until 2019, 1,289.650 births have been monitored through one of the surveillance programs, including both methodologies. The importance of surveillance programs relies on the amount of data obtained that allows the development of research, the detection of potential changes throughout time, and the guidance of public policies to improve promotion and prevention strategies.
Introducción. Los defectos congénitos afectan entre el 2 y el 3 % de los recién nacidos, y son una carga importante entre las causas de morbilidad y mortalidad infantil en los primeros cinco años de vida. En Colombia, fueron la segunda causa de mortalidad infantil según los reportes del Departamento Administrativo Nacional de Estadística (DANE) para el 2011.Objetivo. Describir el estado de salud y las barreras en la atención de niños con defectos congénitos nacidos entre el 2011 y el 2017 en dos instituciones de salud de Cali.Materiales y métodos. Se hizo un estudio observacional descriptivo de corte transversal. Se incluyeron los nacidos entre enero de 2011 y diciembre de 2017 con, al menos, un defecto congénito, a quienes se les hizo seguimiento telefónico.Resultados. De 54.193 nacidos en el período analizado, 1.389 (2,56 %) tenían, por lo menos, un defecto congénito. Todos los casos se clasificaron según la escala de pronóstico y se incluyeron 881 en el seguimiento. El defecto congénito más frecuente fue la malformación congénita cardíaca, con 88 (9,99 %) casos; en segundo lugar, las malformaciones o defectos del riñón, con 73 (8,29 %) casos; en tercer lugar, el síndrome de Down, con 72 (8,17 %) casos, y en cuarto lugar, las anormalidades testiculares, con 56 (6,36 %). Ciento sesenta y uno (35,46 %) de los cuidadores de los 454 casos con seguimiento efectivo, manifestaron haber encontrado, por lo menos, un tipo de barrera en la atención.Conclusión. Se deben implementar programas de seguimiento de los pacientes con defectos congénitos, que contribuyan a disminuir la morbimortalidad.
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