ReviewSclerosing bone dysplasias with involvement of the craniofacial skeleton

•Patients with sclerosing bone dysplasias often present with craniofacial symptoms.•Genetic investigation plays an increasingly important role in diagnosis and counseling.•A multidisciplinary treatment approach is favored, especially in children.

In this review we provide a complete overview of the existing sclerosing bone dysplasias with craniofacial involvement. Clinical presentation, disease course, the craniofacial symptoms, genetic transmission pattern and pathophysiology are discussed. There is an emphasis on radiologic features with a large collection of CT and MRI images. In previous reviews the craniofacial area of the sclerosing bone dysplasias was underexposed. However, craniofacial symptoms are often the first symptoms to address a physician. The embryology of the skull and skull base is explained and illustrated for a better understanding of the affected areas.