Keywords
Bone Diseases, Developmental
Sequence Analysis, DNA
How to Cite
Abstract
Skeletal dysplasias are alterations in bone and cartilage growth with a wide clinical and radiological spectrum, whose prevalence is 2 to 5 cases per 10 000 newborns. The case of a 9-year-old male patient with asymmetrical short stature, normal neurodevelopment, without musculoskeletal deformities and relatives with unexplored short stature is presented. Skeletal dysplasia was diagnosed; however, in the presence of normal paraclinical studies, a molecular study was indicated that revealed a new variant of uncertain significance in the TRVP4 gene. Subsequently, with the use of databases and bioin- formatics, it was reclassified as likely pathogenic. In subsequent assessments, it was determined that there was no specific management and, given the absence of complications amenable to therapy, clinical follow-up was indicated. The impor- tance of reanalysis of molecular studies and bioinformatic strengthening that facilitates timely diagnosis is highlighted, allowing the application of detection, monitoring and treatment strategies.
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