Sclerosing–Hyperostosing–Dysremodeling Osteopathies

Sclerosing osteopathies are characterized by an increase in bone tissue that may affect a portion of bone, an entire bone, an entire limb, or several limbs, or be generalized. Hyperostosis is a group of pathologies in which there is an increase in bone volume either outwards, changing the profile of the diaphysis, or inwards by reducing the medullary canal to the point of obliterating it. In dysmodelling osteodysplasias there is a defect in the shaping of the metaphysis with “club” or “bottle” deformity. Antenatal ultrasound diagnosis is often impossible because almost all of them become manifest after birth, but in at-risk cases it is useful to recommend genetic investigation in cases where the mutated gene is known.