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Definition

A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age.

Acronym

SEMD-MO

Synonyms

Spondyloepimetaphyseal dysplasia type 2
Spondyloepimetaphyseal dysplasia type Missouri
Spondylometaepiphyseal dysplasia type Missouri

 
Disclaimer

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