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A lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.
Mutation of fibroblast growth receptor 3 (FGFR3) gene
Type 1 : telephone handle like femurs
Type 2 : presence of a cloverleaf skull. Limb shortening milder and bowing is not there.
Mnemonic : PCR
P = Platyspondyly (flattened vertebral bodies)
C = Cloverleaf skull
R = Rhizomelic dwarfism , Rib cage is small
Rhizomelic dwarfism Proximal (i.e. femoral, humeral) limb shortening.
Present as Nonviable fetus ....so do spontaneous vaginal delivery!
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