Ranganathan Ragavandran, Jampanapalli Sharada Reddy, Barathi Divya
Department of Pedodontics and Preventive Dentistry, Govt. Dental College & Hospital, Hyderabad, Telangana, India.
Department of Pedodontics and Preventive Dentistry, Govt. Dental College & Hospital, Puducherry, India.
Int J Clin Pediatr Dent. 2024 Oct;17(10):1163-1167. doi: 10.5005/jp-journals-10005-2959.
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures and can be classified as nonsyndromic or syndromic and by which sutures are affected. It affects 1 in 2,000-2,500 children. The most common clinical feature in CS is an abnormal head shape. This is a consequence of the growth of the underlying brain and restriction of skull growth due to premature ossification of skull sutures. It may primarily occur due to genetic mutations or secondarily due to mechanical, environmental, and hormonal factors during pregnancy. The most frequently involved single suture is the sagittal suture, followed by the coronal, metopic, and lambdoid sutures, or multiple sutures.
An 8-year-old girl with second-degree consanguinity and several signs of CS is reported. A deoxyribonucleic acid (DNA) test report revealed an gene mutation located on exon 4, concluding the diagnosis of craniosynostosis-4 with genetic heterogeneity. Intraoral examination revealed multiple unerupted teeth, dental caries, and deep pits and fissures.
Adhesive restorations of carious teeth, pulp capping of 75, and fissure sealing of 46 were done. Extraction of 71 and root stumps of 54 were followed by band and loop space maintainer. In the recall visit after 6 months, 22, 24, and 32 were seen erupted into the oral cavity.
Most genetically determined CS is characterized by autosomal dominant inheritance, but about half of cases are accounted for new mutations. Mutations in the gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors, cause a recently recognized form of craniosynostosis (CRS4) with facial dysmorphism, increased intracranial pressure, Chiari-1 malformation, speech and language delay, and behavioral problems. The overall prevalence of mutations in patients with syndromic CS is around 2%, whereas it is 0.7% in clinically nonsyndromic CS.
Ranganathan R, Jampanapalli SR, Barathi D. Craniosynostosis-4 with Heterozygous Mutation in the Gene: A Case Report. Int J Clin Pediatr Dent 2024;17(10):1163-1167.
颅缝早闭（CS）被定义为颅骨缝过早融合，可分为非综合征性或综合征性，并根据受影响的颅骨缝进行分类。每2000 - 2500名儿童中就有1人受其影响。CS最常见的临床特征是头部形状异常。这是由于潜在大脑的生长以及颅骨缝过早骨化导致颅骨生长受限的结果。它可能主要由基因突变引起，也可能继发于孕期的机械、环境和激素因素。最常受累的单条颅骨缝是矢状缝，其次是冠状缝、额缝和人字缝，或多条颅骨缝。
报告了一名8岁有二级近亲关系且有多种CS体征的女孩。一份脱氧核糖核酸（DNA）检测报告显示一个位于第4外显子的基因突变，确诊为具有遗传异质性的颅缝早闭4型。口腔检查发现多颗未萌出牙齿、龋齿以及深窝沟。
对龋齿进行了黏结修复，对75号牙进行了盖髓治疗，对46号牙进行了窝沟封闭。拔除了71号牙并对54号牙的牙根残端进行处理，之后安装了带环和丝圈式间隙保持器。在6个月后的复诊中，发现22号、24号和32号牙萌出到口腔中。
大多数基因决定的CS具有常染色体显性遗传特征，但约一半的病例是由新的突变引起。编码ETS2抑制因子（ETS转录因子家族的一员）的基因发生突变，会导致一种最近才被认识的颅缝早闭（CRS4）形式，伴有面部畸形、颅内压升高（Chiari - 1畸形）、言语和语言发育迟缓以及行为问题。综合征性CS患者中该基因突变的总体患病率约为2%，而在临床非综合征性CS中为0.7%。
Ranganathan R, Jampanapalli SR, Barathi D. 基因杂合突变导致的颅缝早闭4型：一例报告。《国际临床儿科牙科学杂志》2024；17(10):1163 - 1167。
