Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

ABSTRACT: An accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselling. We describe detailed clinical criteria for syndromic CS and the distribution of genetic diagnoses within the cohort. The prospective registry of the Norwegian National Unit for Craniofacial Surgery was used to retrieve individuals with syndromic CS born between 1 January 2002 and 30 June 2019. All individuals were assessed by a clinical geneticist and classified using defined clinical criteria. A stepwise approach consisting of single-gene analysis, comparative genomic hybridization (aCGH), and exome-based high-throughput sequencing, first filtering for 72 genes associated with syndromic CS, followed by an extended trio-based panel of 1570 genes were offe

SUBMITTER: Tonne E 

PROVIDER: S-EPMC8187391 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature