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Article Abstract

Craniosynostoses (CRS) are caused by the premature fusion of one or more cranial sutures, with isolated nonsyndromic CRS accounting for most of the clinical manifestations. Such premature suture fusion impacts both skull and brain morphology and involves regions far beyond the immediate area of fusion. The combined use of different neuroimaging tools allows for an accurate depiction of the most prominent clinical-radiological features in nonsyndromic CRS but can also contribute to a deeper investigation of more subtle alterations in the underlying nervous tissue organization that may impact normal brain development. This review paper aims to provide a comprehensive framework for a better understanding of the present and future potential applications of neuroimaging techniques for evaluating nonsyndromic CRS, highlighting strategies for optimizing their use in clinical practice and offering an overview of the most relevant technological advancements in terms of diagnostic performance, radiation exposure, and cost-effectiveness.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11394062PMC
http://dx.doi.org/10.3390/diagnostics14171842DOI Listing

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Craniosynostosis (CRS) is characterized by the development of abnormal cranial suture ossification and premature fusion. Despite the identification of several associated genetic disorders, the genetic determinants of CRS remain poorly understood. In this study, we conducted integrative analyses on 225 exomes, comprising 121 CRS probands and 104 parental exomes (52 trios).

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Craniosynostoses (CRS) are caused by the premature fusion of one or more cranial sutures, with isolated nonsyndromic CRS accounting for most of the clinical manifestations. Such premature suture fusion impacts both skull and brain morphology and involves regions far beyond the immediate area of fusion. The combined use of different neuroimaging tools allows for an accurate depiction of the most prominent clinical-radiological features in nonsyndromic CRS but can also contribute to a deeper investigation of more subtle alterations in the underlying nervous tissue organization that may impact normal brain development.

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Purpose: Craniosynostosis (CRS) is a rare congenital cranial malformation in which 1 or more cranial or facial sutures are fused in utero or rapidly fused in early infancy. The cranial sutures separate the skull bone plates and enable rapid growth of the skull in the first 2 years of life, in which growth is largely dictated by growth of the brain. CRS is a rare disease that occurs in 1 in 2100 to 1 in 2500 births and may be either nonsyndromic (also referred to as isolated) or syndromic.

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Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.

Neurosurgery

August 2020

Department of Plastic and Reconstructive Surgery, Institute for Human Tissue Restoration, College of Medicine, Yonsei University, Seoul, Republic of Korea.

Background: Genetic factors play an important role in the pathogenesis of craniosynostosis (CRS). However, the molecular diagnosis of CRS in clinical practice is limited because of its heterogeneous etiology.

Objective: To investigate the genomic landscape of CRS in a Korean cohort and also to establish a practical diagnostic workflow by applying targeted panel sequencing.

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Demographic characteristics of craniosynostosis patients in Asia.

J Craniomaxillofac Surg

April 2018

Department of Plastic & Reconstructive Surgery, Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

Purpose: Craniosynostosis (CRS) is a congenital condition resulting premature fusion of one or more cranial sutures. CRS is classified according to the involved sutures into sagittal, metopic, unicoronal, unilambdoid, bicoronal, and multiple-suture CRS, with sagittal suture fusion known to be the most common type. Although multiple studies have presented demographic characteristics of CRS patients, to date, there is no study representing an Asian population.

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