Quantifying the Severity of Metopic Craniosynostosis
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Nasal Glioma Associated with Metopic Craniosynostosis: Case Report and Review of the Literature.
Nasal gliomas (nasal glial heterotopia) are rare benign congenital frontonasal lesions occurring in approximately 1:20.000-40,000 live births. The diagnosis is rarely reported prenatally. Nasal gliomas are typically isolated lesions, with syndromic association being exceedingly rare. Metopic craniosynostosis can occur as an isolated abnormality or in association with multiple syndromes. This ca...
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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...
متن کاملMicrodeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 dele...
متن کاملHeterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC) and gives rise to the clinical phenotype of trigonocephaly. Deletions of chromosome 9p22.3 are well described as a cause of MC with variably penetrant midface hypoplasia. In order to identify the gene responsible for the trigonocephaly component of the 9p22.3 syndrome, a cohort of 109 patients were assesse...
متن کاملAbstract: Long-Term Outcomes at Skeletal Maturity Following Cranial Vault Remodeling and Fronto-Orbital Advancement for Metopic Craniosynostosis
RESULTS: SSO demonstrated decreased wholebrain intrinsic connectivity compared to controls in left BA-39 and bilateral BA-7’s (p=0.071), which are the superior parietal lobules and the angular gyrus. UCS had significantly decreased intrinsic connectivity throughout the prefrontal cortex (PFC, p=0.031). On seed-based analysis, UCS had significantly increased connectivity between left BA-40 and b...
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ژورنال
عنوان ژورنال: Journal of Craniofacial Surgery
سال: 2020
ISSN: 1049-2275
DOI: 10.1097/scs.0000000000006215