Characterization of patients with skeletal genetic diseases in a Colombian referral center

Biomédica : revista del Instituto Nacional de Salud
Harvy Mauricio Velasco, Lina Patricia Buelvas

Abstract

Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases. Demographic, epidemiological and clinical variables were explored using descriptive statistics. An intervention score was generated contemplating different combinations of treatments. An inferential statistical analysis using Student's t test was performed on such variables. The most frequent reason for consultation was suspicion of a genetic skeletal disorder. The types of treatments considered included support, surgical, pharmacological and orthotics, and it was established that genetic skeletal disorders were associated with higher intervention scores while tall and short height showed a lower score. Most referred patients were classified w...Continue Reading

References

Feb 3, 1999·Journal of Paediatrics and Child Health·A H ZargarM Salahuddin
Oct 26, 2002·American Journal of Medical Genetics·Christine M Hall
Feb 26, 2004·American Journal of Medical Genetics. Part a·Carmen EsmerVictoria Del Castillo
Jul 16, 2005·São Paulo Medical Journal = Revista Paulista De Medicina·Maria Wany Louzada StrufaldiRosana Fiorini Puccini
Nov 23, 2006·American Journal of Medical Genetics. Part a·Andrea Superti-Furga, Sheila Unger
Jan 10, 2008·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·J M WitP Cohen
May 20, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Laurie H SeaverUNKNOWN American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee
Jul 29, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Anastasia E KonstantinidouEfstratios Patsouris
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·J M WitP Mullis
Mar 23, 2011·Pediatrics·Adda GrimbergVirginia A Stallings
Mar 26, 2011·American Journal of Medical Genetics. Part a·Matthew L WarmanAndrea Superti-Furga
Jul 5, 2011·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·A CarrascosaUNKNOWN Grupo Español de Consenso
May 19, 2012·TheScientificWorldJournal·Mohammad I El MouzanMansour M Qurachi
Mar 22, 2013·PLoS Genetics·Diana ZahnleiterChristian T Thiel
Nov 14, 2014·Journal of Back and Musculoskeletal Rehabilitation·Mathew David SewellAresh Hashemi-Nejad
Dec 26, 2015·Revista chilena de pediatría·Carolina Avilés EspinozaHernán García Bruce
Sep 14, 2016·Biomédica : revista del Instituto Nacional de Salud·Oscar F HerránSara E Del Castillo

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