Cited by 483Craniofacial Disorders and Treatmentsdental development and anomaliesBone Metabolism and Diseases

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Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

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Morriss‐Kay, Gillian M., Wilkie, Andrew O. M.·2005·Journal of Anatomy

DOI 10.1111/j.1469-7580.2005.00475.xPMC PMC1571561

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Abstract

The mammalian skull vault is constructed principally from five bones: the paired frontals and parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of the skull vault takes place. Sutural growth involves maintenance of a population of proliferating osteoprogenitor cells which differentiate into bone matrix‐secreting osteoblasts. Sustained function of the sutures as growth centres is essential for continuous expansion of the skull vault to accommodate the growing brain. Craniosynostosis, the premature fusion of the cranial sutures, occurs in 1 in 2500 children and often presents challenging clinical problems. Until a dozen years ago, little was known about the causes of craniosynostosis but the discovery of mutations in the MSX2 , FGFR1 , FGFR2 , FGFR3 , TWIST1 and EFNB1 genes in both syndromic and non‐syndromic cases has led to considerable insights into the aetiology, classification and developmental pathology of these disorders. Investigations of the biological roles of these genes in cranial development and growth have been carried out in normal and mutant mice, elucidating their individual and interdependent roles in normal sutures and in sutures undergoing synostosis. Mouse studies have also revealed a significant correspondence between the neural crest–mesoderm boundary in the early embryonic head and the position of cranial sutures, suggesting roles for tissue interaction in suture formation, including initiation of the signalling system that characterizes the functionally active suture.

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Authors: Morriss‐Kay, G. M., & Wilkie, A. O. M.
Affiliations: University of Oxford (GB)
John Radcliffe Hospital (GB)
ORCID: Wilkie, Andrew O. M.
Venue: Journal of Anatomy
Publisher: Wiley
Published: 2005-11
Volume: 207
Issue: 5
Pages: 637-653
ISSN: 0021-8782 (ISSN-L)
1469-7580
DOI: 10.1111/j.1469-7580.2005.00475.x
PMC: PMC1571561
OpenAlex: W1607201914
Cited by: 483
References: 96
Citations by year: 2026: 15 · 2025: 14 · 2024: 24 · 2023: 24 · 2022: 22 · 2021: 26 · 2020: 20 · 2019: 19 · 2018: 28 · 2017: 30 · 2016: 26 · 2015: 28 · 2014: 28 · 2013: 31 · 2012: 27
FWCI: 1.99
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 1 d)
Locations: Journal of Anatomy (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Wellcome Trust
Topics: Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
Keywords: craniosynostosis, cranial sutures, osteoprogenitor cells, osteogenic differentiation, FGFR1, FGFR2, FGFR3, Msx2, TWIST1, ephrin-B1, skull development, mouse model, syndromic craniosynostosis
MeSH terms: Animals, Cranial Sutures, Craniosynostoses, Genes, Homeobox, Humans, Mice, Mutant Strains, Morphogenesis, Mutation, Skull, Gene Expression Regulation, Developmental, Fetal Development, Mice

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Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

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