OBJECTIVE Craniosynostosis is a premature fusion of 1 or more cranial sutures. It may occur with additional morphological abnormalities (syndromic) or in isolation. Studies suggest that dysregulation of normal cell proliferation, differentiation, and migration has a role in isolated or nonsyndromic craniosynostosis but the molecular mechanisms remain unknown. The aim of this research is to iden...

OBJECTIVE To determine whether premature sagittal craniosynostosis is associated with developmental instability in the skull by analyzing fluctuating asymmetry in skull shape. DESIGN Cranial shape was quantified by collecting coordinate data from landmarks located on three-dimensional reconstructions of preoperative computed tomography (CT) images of 22 children with sagittal craniosynostosis...

Early closure of cranial sutures results in various types of cranial vault deformities, named craniosynostosis. Although mostly associated with syndromic cases, bony orbit deformities such as exorbitism can be seen with various types of craniosynostosis. This condition can be associated with papilledema and besides its effect on the patient's appearance can cause subluxation of the globe, lagop...

Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single-suture craniosynostosis f...

BACKGROUND Radiography, typically the first-line imaging study for diagnosis of craniosynostosis, exposes infants to ionizing radiation. We aimed to compare the accuracy of cranial ultrasound (CUS) with radiography for the diagnosis or exclusion of craniosynostosis. METHODS Children aged 0 to 12 months who were assessed for craniosynostosis during 2011-2013 by using 4-view skull radiography a...

Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci. (J7 Med Genet 1994;31:219-221) Mothercare Unit of Genetics...

BACKGROUND AND PURPOSE Patients with craniosynostosis syndromes caused by mutations in FGFR-2, FGFR-3, and TWIST1 genes are characterized by having prematurely fused skull sutures and skull base synchondroses, which result in a skull deformity and are accompanied by brain anomalies, including altered white matter microarchitecture. In this study, the reliability and reproducibility of DTI fiber...

The objective of this study was to determine whether children with nonsyndromic craniosynostosis and plagiocephaly without synostosis demonstrated cognitive and psychomotor delays when compared with a standardized population sample. This was the initial assessment of a larger prospective study, which involved 21 subjects with nonsyndromic craniosynostosis (mean age, 10.9 months) and 42 subjects...

Abstract Background Historically in Manitoba, all children with craniosynostosis were referred to the Child Development Clinic (CDC) for neurodevelopmental evaluation, because has been associated developmental delay. However, due heightened volume pressures, CDC recently decided limit number of referrals accepted evaluation craniosynostosis. Objectives To inform best practices screening, this s...

Abstract Craniosynostosis is a congenital disease characterized by the premature closure of one or multiple sutures infant’s skull. For diagnosis, 3D photogrammetric scans are radiation-free alternative to computed tomography. However, data only sparsely available and role augmentation for classification craniosynostosis has not yet been analyzed. In this work, we use 2D distance map representa...