Abstract

LUNA BARRON, Beatriz et al. ANTHROPOMETRIC ALTERATIONS ASSOCIATED WITH GENETIC SYNDROMES IN PATIENTS OF GENETICS INSTITUTE, LA PAZ BOLIVIA (2012 - 2016). Rev. Méd. La Paz [online]. 2019, vol.25, n.1, pp.9-15. ISSN 1726-8958.

Introduction: Grow this fundamental for the integral development of anorganism, it is influenced and controlled by interaction of several genetic and environmental factors. Genetics syndromes are associated with alterations in patterns of growth and development. Objective: To determine the frequency of anthropometric alterations associated with genetic syndromes in patients from Institute of Genetics of La Paz, Bolivia (2012 - 2016). Material and methods: Observational, descriptive and cross-sectional study of patient with anthropometric alterations and facial and/or corporal dimorphisms. Results: From 381 patients included in the study, 45% had anthropometric alterations and facial and/or body dimorphisms. Of these, 63.5% displayed height variations (<p5 or> p95), most of them short stature. 52.3% of patients with anthropometric alterations had weight variations, and low weight was more frequent. The cephalic perimeter was altered in 42% of the patients, with similar proportions for macrocephaly and microcephaly. It was observed that most of the cases with anthropometric alterations corresponded to genetic syndromes, followed by chromosomopathies and others. Differences in distribution by sex and anthropometric alterations were also observed. Discussion: It is known there is a great environmental and genetic contribution in the etiology of anthropometric alterations. The identification of these alterations leads to a better criterion for a syndrome suspicion, and its careful evaluation remains a crucial part in medical genetics.

Keywords : Genetic syndromes; anthropometric alterations.

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