Clinical-Epidemiological Study of a Cohort of 35 Patients with Craniosynostosis

Introduction: Craniosynostosis is a congenital anomaly defined as early ossification of the cranial sutures.It is a rare pathology worldwide, implicitly also in our country, with a prevalence of 1:2100-1:2500.However, it represents a condition with potentially severe complications in terms of patient functionality.At the same time, not much research has been done in this field.Thus, it was considered useful to conduct a study on the epidemiology of craniosynostosis in Bihor county.Objectives: The present study had the following objectives: updating epidemiological data; analysis of the clinical data of the study group; identification of risk factors in the occurrence of the disease; evaluating the prospects for a genetic approach to the disease, including genetic testing and genetic counseling.Materials and methods: This is a retrospective cross-sectional study.Data from a cohort of 35 patients were collected using the database which were made available by the Bihor Regional Center for Medical Genetics.Only patients with imaging-confirmed craniosynostosis in the last three decades were included in the study.Outcomes: Most patients were diagnosed in the age range of one month -one year, the mean being 197 days.The most frequently affected suture was the sagittal suture (60%) and the least affected one the metopic suture (5%).Combined lesions were present in three cases.The majority (75%) of cases were isolated craniosynostosis, with the remaining 25% being diagnosed in the context of a genetic syndrome (most frequently Apert syndrome).Throughout the three explored decades, a significant increase in the number of cases was observed.Conclusions: The most commonly affected groups included male patients, those from rural areas, those born after year 2000, especially from 2011 to the present.Most cases were isolated craniosynostosis.Heredo-collateral antecedents were insignificant.Three risk factors were present, including male sex, maternal smoking during pregnancy and advanced parents' ages.Complications of the disease were rare and a minority of patients benefited from surgical treatment.Genetic counseling is an important component of disease prevention and should be offered as soon as possible.