ABSTRACT

Skeletal dysplasias are a heterogeneous group of bone and cartilage disorders resulting in limb deformities and short stature. The short stature (defined as a height that is two or more standard deviations below the mean height for age) could be proportionate or disproportionate depending on the trunk-to-limb length ratio. Disproportionate short stature could result from short limbs or a short trunk. Shortening in a limb could affect the proximal limb segment (rhizomelic), e.g. the arm in the upper limb; the middle segment (mesomelic), e.g. the forearm in the upper limb; or the distal segment (acromelic), e.g. the hand in the upper limb.