Dysmorphic Syndromes with Craniofacial Anomalies

Some malformative diseases have a prevalent, although not exclusive, involvement of the bones of the skull and face. The common pathogenetic moment is an anomalous closure of sutures with secondary deformation of the skull and face; sometimes the defect is due to an abnormal evolution of the constituent elements of the first branchial arch. The syndromes most common are Crouzon craniofacial dysostosis, mandibular-facial dysostosis, cleidocranial dysplasia, frontal-nasal dysplasia, Goldenhar syndrome, Robin syndrome, and Opitz trigonocephaly. Prenatal diagnosis is possible but since these are evolutive pathologies, the diagnostic suspicion is usually highlighted in the third trimester or after birth.