The majority of masses and mass-like conditions of developmental/genetic origin are benign. This article attempts to provide a comprehensive radiological review of the most common developmental masses involving the craniofacial skeleton, along with their multimodality imaging features, clinical manifestations and the role of imaging in their pluridisciplinary management. Most published articles on the subject are isolated case reports or small case series dealing with the clinical presentation and with patient management. To the best of our knowledge, a review of the imaging features of these rare masses and their impact on treatment has not been published in the English literature during the past 20 years. In addition, as these rare lesions may mimic neoplasms of the craniofacial skeleton and vice versa, it is imperative to be aware of their characteristic imaging features in order to avoid unnecessary biopsy and expensive follow-up examinations. Radiologists, as part of an interdisciplinary team, play an important role in the management of these young patients. Management of these patients, therefore, often requires close interdisciplinary work-up, precise and often complex treatment planning strategies and post-treatment surveillance into adulthood. Cosmetic deformities, due to the lesion itself or due to treatment-related asymmetric facial growth, may cause a significant psychosocial impact on the patient’s life. Other conditions affecting the developing craniofacial skeleton, such as fibrous dysplasia, ossifying fibroma, familial gigantiform cementoma, cemento-osseous dysplasia, hereditary multiple osteochondroma or plexiform neurofibroma, may cause functional impairments due to the proximity to important neurovascular structures, organs of special senses and developing dentition. Some of these conditions, such as torus palatinus and torus mandibularis, require no treatment other than alleviation of parental anxiety. Masses and mass-like lesions related to various developmental and genetic conditions can affect the developing craniofacial skeleton. Recognition of pivotal imaging pearls and diagnostic pitfalls avoids interpretation errors.CT, MRI and ultrasonography play a key role in their work-up.Although rare, these lesions have characteristic imaging features.Masses of developmental and genetic origin may severely impair the craniofacial skeleton.Pitfalls of image interpretation are addressed and how to avoid them. Key imaging findings and characteristic clinical manifestations are reviewed. Typical findings are illustrated and the respective roles of computed tomography (CT), cone beam CT (CBCT), magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) sequences and ultrasonography (US) are discussed for the pre-therapeutic assessment, complex treatment planning and post-treatment surveillance. This article provides a comprehensive approach for the evaluation of children with masses or mass-like lesions of developmental and genetic origin affecting the craniofacial skeleton. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton.
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