Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients

This study aims to refine the understanding of the phenotypic continuum of hypochondroplasia (HCH) by evaluating genetic, endocrine, and radiological findings in 23 patients with confirmed FGFR3 variants. The authors identify common clinical features, such as disproportionate short stature and specific radiographic abnormalities, while highlighting the genetic heterogeneity associated with different FGFR3 mutations. The findings emphasize the importance of molecular diagnosis for accurate identification and better understanding of genotype-phenotype correlations in HCH.