Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome, and hemifacial microsomia. Craniofacial microsomia has become the preferred term. Although no diagnostic criteria for craniofacial microsomia exist, most patients have a degree of underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve. These anomalies can affect feeding, compromise the airway, alter facial movement, disrupt hearing, and alter facial appearance.
Keywords: Craniofacial microsomia; Distraction osteogenesis; Goldenhar syndrome; Hemifacial microsomia; Oculoauriculovertebral syndrome; Orthognathic surgery; Phenotypic assessment tool – craniofacial microsomia (PAT-CFM); Virtual surgical planning.
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