Mesomelic Dwarfism

Mesomelic dwarfism is a bone dysplasia that mainly affects intermediate structures (leg and forearm) as opposed to rhizomelic and acromelic structures. The upper limbs are affected more frequently than the lower limbs. There is often unilateral involvement. Skeletal abnormalities and involvement of other organs are often associated with these bone dysplasias. The modalities of genetic transmission are varied and in some cases the mutated genes are unknown. When the sonographer recognizes mesomelic dysplasia, he or she must request genetic testing.