Cited by 135Craniofacial Disorders and Treatmentsdental development and anomaliesCleft Lip and Palate Research

Genetic analysis of non‐syndromic craniosynostosis

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Boyadjiev, SA, for the International Craniosynostosis Consortium·2007·Orthodontics & Craniofacial Research

Abstract

Structured Abstract: Authors – Simeon A. Boyadjiev Craniosynostosis is a common malformation occurring in 3–5 per 10 000 live births. Most often craniosynostosis occurs as an isolated (i.e. non‐syndromic) anomaly. Non‐syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non‐genetic factors contributing to the risk of this common craniofacial defect.

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Crossref · 10.1111/j.1601-6343.2007.00393.x

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  • Independent work has confirmed that molecular diagnosis rarely succeeds in sagittal synostosis.

    “Although the numbers of patients tested in some groups were relatively small, the low success rate of molecular diagnosis in sagittal synostosis has been independently confirmed.39”

    From Craniosynostosis (2011) · cites this paper as [39]

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Research works printed but not linked: 9

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Authors
Boyadjiev, S., & for the International Craniosynostosis Consortium
Affiliations
University of California, Davis (US)
Corresponding author
Boyadjiev, SA
Venue
Orthodontics & Craniofacial Research
Publisher
Wiley
Published
2007-07-21
Volume
10
Issue
3
Pages
129-137
ISSN
  • 1601-6335 (ISSN-L)
  • 1601-6343
OpenAlex
W2164204351
Cited by
135
References
56
Citations by year
2026: 1 · 2025: 5 · 2024: 8 · 2023: 10 · 2022: 12 · 2021: 6 · 2020: 7 · 2019: 9 · 2018: 6 · 2017: 15 · 2016: 9 · 2015: 5 · 2014: 6 · 2013: 9 · 2012: 9
FWCI
0.28
Type
journal article
Language
en
Open access
Locations
  • Orthodontics and Craniofacial Research (publishedVersion)
  • PubMed (publishedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
Funders
  • University of Missouri
  • Washington University in St. Louis
  • University of Washington
  • Johns Hopkins University
  • University of Oklahoma
  • Deutsches Krebsforschungszentrum
  • Children's Miracle Network Hospitals
  • University of Oxford
  • Universität zu Köln
  • National Institutes of Health (RR-00052)
  • University of California, Davis
  • University of California, Irvine
  • National Institute on Deafness and Other Communication Disorders (M01-RR00052)
  • National Institute of Dental and Craniofacial Research (K23 DE 00462, R03DE016342, K23DE000462, R01DE016886)
  • National Center for Research Resources (M01 RR-00052, RR 000 52, M01RR000052)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
Keywords
nonsyndromic craniosynostosis, cranial sutures, sagittal synostosis, coronal synostosis, genetic risk factors, craniofacial defects
MeSH terms
Cranial Sutures, Craniosynostoses, Humans, Molecular Biology, Phenotype, Risk Factors, Syndrome

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