Rhizomelic Dwarfism

Rhizomelic dwarfism is a bone dysplasia that presents with a greater biometric reduction in rhizomelic structures, which are those more proximal to the trunk such as the humerus and femur. These dysplasias are developmental and become manifest in the third trimester or more often after birth. The diagnosis of dwarfism can only be made when the percentile of rhizomelic structures is equal to or less than third percentile. One must always rule out other causes of growth decalage such as gestosis or infection and, when ultrasound signs point to osteodysplasia, request a genetic examination.