Laura Camila Cáceres Delgado, second year resident of the Pediatrics program and member of the PAIDOS research group of the Universidad Industrial de Santander, proudly participated in the 34th Colombian Congress of Pediatrics, held in Cartagena and organized by the Colombian Society of Pediatrics (SCP).
His work was selected among the 10 best for oral presentation, out of a total of 148 posters accepted at the event, which gathered 3,476 attendees and had the purpose of scientific updating in the pediatric field.
The presentation presented the clinical case of an adolescent with disproportionate short stature secondary to hypochondroplasia, a bone dysplasia of autosomal dominant inheritance, commonly caused by mutations in the FGFR3 gene. The diagnosis was clinically suspected and confirmed by next-generation genetic sequencing (NGS), which identified the pathogenic variant p.Asn540Lys. The case highlights the importance of considering this condition in patients with disproportionate short stature, as well as the emotional and social impact that a late diagnosis can generate. In addition, the value of the interdisciplinary approach and the potential of new emerging therapies to improve the quality of life of these patients was highlighted.
The authors of the case were: Laura Camila Cáceres Delgado (II year resident); María Lucía Vega (I year resident); Gustavo Contreras (physician-geneticist, professor of the Pediatrics program) and Víctor Mendoza (endocrinologist-pediatrician, professor of the Pediatrics program). All of them are members of the Department of Pediatrics and the PAIDOS Research Semillero.
This important achievement reflects the commitment, talent and academic excellence of the residents and research groups.
