Table 1 FGFR3 gene related skeletal disorders and relative differences

Perinatally Lethal

Severely disproportionate limb short stature, narrow chest with short ribs, underdeveloped lungs, macrocephaly,

Reduced lifespan* (see above text)

Disproportionate limb short stature, brachydactyly, macrocephaly with prominent forehead, mid-facial hypoplasia,flattened nasal bridge, kyphosis / lordosis, varus / valgus deformities

Normal Lifespan

Mild disproportionate limb short stature, increased head circumference, normal facies.

Commonest mutation(s); R248C and K650E [13]

G380R

N540K