Craniosynostosis-4 with Heterozygous Mutation in the ERF Gene: A Case Report
Year: 2024
Type: article
Study design: Case Report
Abstract: Background: 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. Case description: 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. Intervention: 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. Clinical significance: mutations in patients with syndromic CS is around 2%, whereas it is 0.7% in clinically nonsyndromic CS. How to cite this article: Gene: A Case Report. Int J Clin Pediatr Dent 2024;17(10):1163-1167.
Authors: Ragavandran Ranganathan, Sharada Reddy Jampanapalli, Divya Barathi
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4404772261