Limb shortening can result from reduced length of each of the individual bones in the limb, singly or in variable combination.
This chapter encompasses two specific types of limb shortening: shortening of the proximal seg-ments,such as humerus and femur (rhizomelia), and shortening of the mid-portion segments, such as radius/ulna and tibia/fibula (mesomelia). Since shortening is only rarely completely selective within the limb, the terms rhizomelia and mesomelia are intended to refer to a gross disproportion in the shortening between the proximal and middle segments in the limb. Moreover, varying degrees of upper and lower limb involvement are sometimes seen in the same patient. Recognition of a given pattern of limb shortening, e.g., rhizomelic or mesomelic, decreases the range of diagnostic possibilities. More specific defects in the limbs, including Madelung deformity, tibial and fibular hemimelia, and radial and ulnar ray deficiency are addressed in other sections of this chapter and elsewhere in the book.
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