Comparison of Intracranial Volumes in Patients With Isolated Metopic Ridge, Metopic Craniosynostosis, and Normal Children

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Children with Metopic Ridge.

AIM The premature closure of the metopic suture results in metopic synostosis, also known as trigonocephaly. However, there is a group of children who have only a frontal metopic ridge, obvious with inspection and fingertip palpation, without the clinical features of trigonocephaly. This study aims to report a group of children with metopic ridge with a special emphasis on the definition and th...

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Heterozygous 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...

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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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Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

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...

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ژورنال

عنوان ژورنال: Plastic and Reconstructive Surgery - Global Open

سال: 2019

ISSN: 2169-7574

DOI: 10.1097/01.gox.0000584600.73315.81