FGFR3 has been reported to cause CATSHL syndrome (camptodactyly, tall stature, scoliosis, and hearing loss) [59,60], and we identified two novel variants, c.1286C>T (p.A429V) and c.1450G>A (p.G484S), which formed a compound heterozygous genotype in one case. This evidence concerns the gene FGFR3 and Camptodactyly - tall stature - scoliosis - hearing loss.