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

Introduction: 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.

Objective: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt.

[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia].

Objectives: To explore the incidence of syndromic genetic pathologies in Boyacá, Colombia, through a community genetics approach.

Materials And Methods: A group made up by different medical specialists (geneticists, a pediatric neurologist, and a biochemical geneticist) developed clinical campaigns, in which patients with clinical suspicion of genetic diseases were involved. Demographic, epidemiological and clinical data were collected, and frequency calculations were made based on the collected data.