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- Title
Clinical-Epidemiological Study of a Cohort of 35 Patients with Craniosynostosis.
- Authors
SOMOLAN, Caludia-Victoria; PETCHESI, Codruta Diana; JURCA, Claudia; BEMBEA, Marius
- Abstract
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.
- Subjects
CRANIOSYNOSTOSES; DISEASE risk factors; MEDICAL genetics; GENETIC counseling; CRANIAL sutures; FIBRODYSPLASIA ossificans progressiva
- Publication
Maedica - a Journal of Clinical Medicine, 2022, Vol 17, Issue 4, p893
- ISSN
1841-9038
- Publication type
Article
- DOI
10.26574/maedica.2022.17.4.893