Key result
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs.
Why the study?
Angular deformities such as bowlegs in young children can have multiple causes including skeletal dysplasia, but diagnosis can be challenging without genetic analysis.
Case Report (n=1)
Next-generation sequencing can identify underlying genetic causes like TRPV4-related skeletal dysplasia in children presenting with progressive bowlegs.
NGS may aid diagnosis of rare skeletal dysplasias in select pediatric cases; leaves open need for validation in larger cohorts.
Angular deformities of the lower limbs are common during childhood. In children under 2 years of age, bowleg (genu varum) may represent a normal physiological process. In certain circumstances, pathologic bowlegs result from Blount disease, rickets and other metabolic bone diseases, skeletal dysplasia, asymmetric growth secondary to infection, trauma and neoplasia even in a child without a family history.1
No takes yet. Share an insight, caveat, or question.
Hsu et al. (2018) conducted a case report in Progressive bowlegs (n=1). Next-generation sequencing was evaluated. Next-generation sequencing successfully identified TRPV4-related skeletal dysplasia in a boy presenting with progressive bowlegs.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: