Dysmorphic Syndromes with Limb Overgrowth

A series of congenital diseases belong to this group, with a non-univocal etiology, which have the common characteristic of presenting a volumetric increase in the limbs. Overgrowth can be total, when it globally affects one or more limbs (megamelia or even gigantomelia); partial, when only one limb segment is affected (macromelia); regular, when all tissues (skeleton and soft parts) contribute to the increase in volume; and irregular, when only one tissue is involved. Regular hypertrophy can affect only one side of the body (congenital hemihypertrophy) or only one limb (congenita hypertrophy of the limb) or parts of it (Proteus syndrome). The main anomalies of this group are therefore congenital hemihypertrophy, congenital hypertrophy of the lower limb, and Proteus syndrome. The message is to always observe that there is no hemimegalencephaly and there is no increase in the limb or soft tissues in a grossly manner. It is obvious that diagnostic recognition through ultrasound examination is very low and is sometimes suspected only in the third trimester or after birth.