Somolan Claudia-Victoria, Petchesi Codruta Diana, Jurca Claudia, Bembea Marius
"Prof. Dr. Ioan Puscas" City Hospital, Simleu Silvaniei, Romania.
University of Oradea, Faculty of Medicine and Pharmacy, Oradea, Romania.
Maedica (Bucur). 2022 Dec;17(4):893-901. doi: 10.26574/maedica.2022.17.4.893.
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. 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. 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. 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. 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.
颅缝早闭是一种先天性异常，定义为颅骨缝线过早骨化。在全球范围内，这是一种罕见的病症，在我国亦是如此，患病率为1:2100 - 1:2500。然而，就患者功能而言，它是一种可能引发严重并发症的病症。同时，该领域的研究并不多。因此，开展一项关于比霍尔县颅缝早闭流行病学的研究被认为是有益的。本研究有以下目标：更新流行病学数据；分析研究组的临床数据；确定疾病发生的风险因素；评估针对该疾病的遗传方法的前景，包括基因检测和遗传咨询。这是一项回顾性横断面研究。使用比霍尔地区医学遗传学中心提供的数据库收集了35名患者的队列数据。本研究仅纳入了过去三十年中经影像学确诊为颅缝早闭的患者。大多数患者在1个月至1岁的年龄范围内被诊断出，平均年龄为197天。最常受影响的缝线是矢状缝（60%），受影响最小的是额缝（5%）。有3例出现联合病变。大多数（75%）病例为孤立性颅缝早闭，其余25%在遗传综合征（最常见的是Apert综合征）背景下被诊断出。在整个研究的三十年中，观察到病例数量显著增加。最常受影响的群体包括男性患者、农村地区的患者、2000年后出生的患者，尤其是2011年至今出生的患者。大多数病例为孤立性颅缝早闭。家族旁系病史不明显。存在三个风险因素，包括男性、母亲孕期吸烟和父母年龄较大。该疾病的并发症很少见，少数患者接受了手术治疗。遗传咨询是疾病预防的重要组成部分，应尽早提供。
