Monday, January 25, 2021

Mnemonic for Thanatophoric dysplasia (thanatophoric dwarfism)


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 do spontaneous vaginal delivery!

Thank you!

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