The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes - a literature review and three case reports

Abstract

Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology.Skeletal anomalies are recognized concomitants of the various genetic syndromes.The aim of the study was to review the current literature on this topic and to present the characteristics of craniofacial and cervicovertebralmorphology and subsequent anomalies in three patients with Crouzon syndrome, Treacher Collins syndrome and cleidocranial dysplasia.

Materials and methods: A comprehensive electronic search was performed using PubMed via Medline, Web of Science and SCOPUS. A manual search involved references form articles retrieved for possible inclusion. There were no restrictions as to date of publication, study design or language. The search, evaluation of relevant articles, and their critical appraisal were performed by two independent judges. Discrepancies between reviewers were resolved through a consensus with a third party.

Case reports: Additionally, this paper presents a radiographic analysis of craniofacial and cervicovertebral morphology in patients with cleidocranial dysplasia, Crouzon, and Treacher Collins syndromes. The most characteristic findings of cervicovertebral morphology were the presence of cervical spine fusions in all three patients. The intervertebral fusions in patients with Crouzon and Treacher Collins syndromes have been characterized with “block vertebrae”. Cervicovertebral complex of the patient with cleidocranialdysplasia is characterized by delayed mineralization of vertebral bodies (C1–C7).

Results: Although craniofacial and cervicovertebral anomalies in presented syndromes have different phenotype expression, the vastmajority of cases are caused by mutations in specific, syndrome-related genes (FGFR2, FGFR3, RUNX2, TCOF1, POLR1C,POLR1D). Craniofacial anomalies, that include changes in development of hard and soft tissues, were considered as traditional concomitant of presented syndromes. Apart from these changes, cervicovertebral region could also be affected. Recent reports show different changes in vertebral structure (delayed mineralization) and unphysiological relations (cervical spine fusions).

Conclusion: The limitation of cervical range of motion resulting from these anomalies may have clinical significance on multidisciplinary management approach in these patients. Recent progress in dentistry resulted in better diagnostic and therapeutic options andoutcomes for individuals with genetic syndromes.