Chondrodysplasia punctata

Discussion:

Chondrodysplasia punctata includes a spectrum of uncommon congenital skeletal dysplasia which can be broadly classified into rhizomelic type and non-rhizomelic types. 

They demonstrate characteristic stippling at the cartilaginous ossification centers of the axial and peripheral bones. Characterstic coronal clefts are seen in the spine on lateral views. 

Prenatal ultrasonography and radiographs after birth can help make the diagnosis. 

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