Internal medicine

Phenotype

Pathology

Receptor

Pediatrics

Osteochondrodysplasia

Short stature

Achondroplasia

Fibroblast growth factor

Biology

Gene

Endocrinology

Fibroblast growth factor receptor 3

Dysplasia

Dwarfism

Mutation

Missense mutation

Genetics

Medicine

Journal of Pediatric Genetics

Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We present a family with disproportionately short stature and mild radiologic findings seen in a major public pediatric hospital in Argentina. A previously undescribed heterozygous missense variant in FGFR3, NM_000142.4:667C &gt; T; p.(Arg223Cys) was identified. The predicted phenotype correlates well with the mild auxologic and radiologic characteristics observed. In this case, disproportionately short stature raised the suspicion of skeletal dysplasia.

Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation