Homozygous N540K hypochondroplasia-First report: Radiological and clinical features

We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH.Fil: García de Rosa, María Laura. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Fano, Virginia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Araoz, H. Verónica. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Chertkoff, Lilien Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Obregon, M. Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentin