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...

Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).Many of the characteristic facial features of Apert syndrome result from the premature fusion o...

BACKGROUND Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruption for the development NSC. We applied a whole genome sequencing approach on a...

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...

Plagiocephaly is a common condition that affects infants. It can be broadly grouped into positional and non positional plagiocephaly Positional plagiocephaly frequently resolves without intervention. Non positional plagiocephaly resulting from craniosynostosis often requires surgical intervention. In this case report, we present a rare case of unilateral frontosphenoid craniosynostosis. We disc...