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Copyright of MEDISAN is the property of Centro Provincial de Informacion en Ciencias Medicas de Santiago de Cuba and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of MEDISAN is the property of Centro Provincial de Informacion en Ciencias Medicas de Santiago de Cuba and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A descriptive, cross-sectional and quantitative study of 54 patients with Down syndrome, assisted in the Clinical Genetics Service of "Dr. Antonio María Béguez César" Teaching Southern Children Hospital was carried out in Santiago de Cuba, from 2000 to 2015, aimed at determining the growth pattern of those affected patients. Among the analyzed variables there were age, sex and anthropometric indexes: weight according to age, height according to age, weight/height index and body mass index; also, the most frequent congenital defects were evaluated in the sample. It was concluded that the growth pattern of these patients is similar to the one described in the medical literature related to the topic, which can be useful for the clinical care that should be offered, as well as to guide the parents on the eating habits and lifestyles as part of the treatment of children and adolescents with this syndrome. [ABSTRACT FROM AUTHOR]

Taking into account that colorectal cancer is a disease that causes significant morbidity and mortality and that the rates of incidence have been increased in a significant way in the last decade, it is decided to establish preventative strategies, for which it is required to identify either hereditary forms of the disease or family forms with poligenic hereditary component. To such effects, in this study some genetic and epidemiologic aspects related to the topic are analyzed whose knowledge can contribute to the search of people with risk of suffering from it. [ABSTRACT FROM AUTHOR]

Charcot-Marie-Tooth disease is a degenerative affection of the peripheral nervous system that presents great genetic and clinic heterogeneity. The presentation with autosomal dominant pattern, well-known in some classifications as type I, is the most frequent; also, the making of the genealogical tree turns out to be the most important instrument to know the inheritance type. To such effects, 2 case reports belonging to a family with 35 members affected by this neurological dysfunction are described, assisted in the Provincial Center of Medical Genetics in Santiago de Cuba. [ABSTRACT FROM AUTHOR]

The clinical case of a 3 months first-born infant is described who had been evaluated by a specialist of Clinical Genetics in "Dr. Juan de la Cruz Martínez Maceira" Northern Pediatric Hospital in Santiago de Cuba, for presenting a fissure in the inferior third of the sternum. Later on hemangiomas emerged in the inferior lip, the lobe of the right ear and the lateral right part of the neck, as well as a mid abdominal raphe from the sternal fissure to the navel. The required complementary tests were carried out and she was scheduled for several specialties, with which it was concluded that the patient presented an association of sternal malformation and vascular dysplasia. It is the first case notified in Cuba. [ABSTRACT FROM AUTHOR]

Copyright of MEDISAN is the property of Centro Provincial de Informacion en Ciencias Medicas de Santiago de Cuba and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)