J Pediatr Genet 2020; 09(01): 048-052
DOI: 10.1055/s-0039-1695056
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

1  Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina
,
Miriam Aza-Carmona
2  Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain
3  Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, UAM, IdiPAZ, Madrid, Spain
4  CIBERER, ISCIII, Madrid, Spain
,
Mariana del Pino
1  Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina
,
Karen E. Heath
2  Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain
3  Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, UAM, IdiPAZ, Madrid, Spain
4  CIBERER, ISCIII, Madrid, Spain
,
Virginia Fano
1  Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina
,
Maria Gabriela Obregon
5  Department of Genetics, Hospital Garrahan, Buenos Aires, Argentina
› Author Affiliations
Further Information

Publication History

15 April 2019

16 July 2019

Publication Date:
02 September 2019 (online)

Abstract

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 > 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.