Severe complications in a child with achondroplasia and twoFGFR3 mutations on the same allele

We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 ( FGFR3 ) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele‐specific PCR demonstrated that these mutations were on the same allele ( cis ). Both mutations were not present in the parents and appear to have occurred...