Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature.

Abstract excerpt

Objective: To report the identification of a FGFR3 gene variant in a family with idiopathic short stature, characterized by proportionate stature and the absence of dysmorphic features, and to highlight the importance of genetic investigation in ISS as well as the clinical heterogeneity of the FGFR3 N540S variant. Methods: Based on clinical and genetic data collected from the proband and short-statured relatives,...

Topics

• Humans
• Receptor, Fibroblast Growth Factor, Type 3
• Male
• Dwarfism
• Pedigree
• Child, Preschool