Alghamdi Malak, Alhumsi Taghreed R, Altweijri Ikhlass, Alkhamis Waleed H, Barasain Omar, Cardona-Londoño Kelly J, Ramakrishnan Reshmi, Guzmán-Vega Francisco J, Arold Stefan T, Ali Ghaida, Adly Nouran, Ali Hebatallah, Basudan Ahmed, Bakhrebah Muhammed A
Medical Genetic Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
Front Pediatr. 2021 Apr 16;9:582816. doi: 10.3389/fped.2021.582816. eCollection 2021.
Craniosynostosis (CS) is defined as pre-mature fusion of one or more of the cranial sutures. CS is classified surgically as either simple or complex based on the number of cranial sutures involved. CS can also be classified genetically as isolated CS or syndromic CS if the patient has extracranial deformities. Currently, the link between clinical and genetic patterns of CS in the Saudi population is poorly understood. We conducted a retrospective cohort study among 28 CS patients, of which 24 were operated and four were not. Clinical and genetic data were collected between February 2015 and February 2019, from consenting patient's families. The electronic chart data were collected and analyzed including patient demographics, craniofacial features, other anomalies and dysmorphic features, operative data, intra cranial pressure (ICP), parent consanguinity and genetic testing results. The most common deformity in our population was trigonocephaly. The most performed procedure was cranial vault reconstruction with fronto-orbital advancement, followed by posterior vault distraction osteogenesis and suturectomy with barrel staving. Genetics analysis revealed pathogenic mutations in (6 cases), (3 cases), (2 cases), and (2 cases), and (2 case). Compared to Western countries, our Saudi cohort displays significant differences in the prevalence of CS features, such as the types of sutures and prevalence of inherited CS. The genomic background allows our phenotype-genotype study to reclassify variants of unknown significance. Worldwide, the sagittal suture is the most commonly affected suture in simple CS, but in the Saudi population, the metopic suture fusion was most commonly seen in our clinic. Further studies are needed to investigate the characteristics of CS in our population in a multicenter setting.
颅缝早闭（CS）被定义为一条或多条颅缝过早融合。根据受累颅缝的数量，CS在手术中分为简单型或复杂型。如果患者有颅外畸形，CS在遗传学上也可分为孤立性CS或综合征性CS。目前，沙特人群中CS的临床和遗传模式之间的联系尚不清楚。我们对28例CS患者进行了一项回顾性队列研究，其中24例接受了手术，4例未接受手术。2015年2月至2019年2月期间，从同意参与的患者家庭收集了临床和遗传数据。收集并分析了电子病历数据，包括患者人口统计学信息、颅面部特征、其他异常和畸形特征、手术数据、颅内压（ICP）、父母近亲关系和基因检测结果。我们研究人群中最常见的畸形是三角头畸形。最常进行的手术是额眶前移的颅骨穹窿重建术，其次是后颅穹窿牵张成骨术和桶状劈开缝切除术。基因分析揭示了[具体基因1]（6例）、[具体基因2]（3例）、[具体基因3]（2例）、[具体基因4]（2例）和[具体基因5]（1例）的致病突变。与西方国家相比，我们的沙特队列在CS特征的患病率方面存在显著差异，如缝的类型和遗传性CS的患病率。基因组背景使我们的表型-基因型研究能够对意义不明的变异进行重新分类。在全球范围内，矢状缝是简单型CS中最常受累的缝，但在沙特人群中，我们诊所最常看到的是额缝融合。需要进一步的研究来在多中心环境中调查我们人群中CS的特征。
