Targeted next-generation sequencing in the diagnosis of facial dysostoses

Defects in the development of first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses. Facial dysostoses represent a group of rare and highly heterogeneous disease entities that encompass mandibulofacial dysostoses with normal extremities and acrofacial dysostoses with limb anomalies in addition to craniofacial defects.