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Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies
Open accessAbstract
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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“The higher genetic load associated with coronal synostosis is likely to reflect the distinct embryological origin of the coronal suture, at the boundary between the developing frontal bone (neural crest origin) and parietal bone (cephalic mesoderm).8,40”
From Craniosynostosis (2011) · cites this paper as [40]
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“The incidence of single suture synostosis increased noticeable constant in recent years. Moreover, there is a dynamic change in the frequency of the different subtypes of this clinical picture at the same time [21–24].”
From Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years (2025) · cites this paper as [21]
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Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?
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“, craniosynostosis (CS), represents a highly heterogeneous neurocranium malformation (Morriss-Kay and Wilkie, 2005).”
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“Congenital abnormalities such as craniosynostosis (early closure of the skull sutures) result when the balance between growth and differentiation in the early skull mesenchyme is disturbed through mutations in one or another of the key pathway components [41].”
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“Premature synostosis of one or more sutures is accompanied by compensatory growth, both in other sutures, and by remodelling (appositional growth) of other parts of the skull [194].”
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“This phenotypic variability is thought to be a result of an interaction between genetic and epigenetic/environmental factors.(2,5,7) In the more severe cases, surgical intervention and cranial reconstructions are necessary.”
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“Consequently, increased risk for cortex lesion with intellectual disability or visual and hearing impairment is observed (Renier et al. 1982; Morriss-Kay and Wilkie 2005).”
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“This disease causes delayed brain development owing to abnormal skull growth, resulting in mental retardation, learning disabilities, and cognitive impairment, which significantly reduce the quality of life of the patients [107,108].”
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“Several genetic disturbances are identified in syndromic cases of craniosynostosis, but the etiology of single suture-craniosynostosis remains largely unknown.(1,2) The most common and familiar technique in the treatment of craniosynostosis is the cranial vault reconstruction technique.”
BackgroundMultisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?
Thomas, G. P. L., Magdum, S. A., Saeed, N., & Johnson, D. (2018) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000004870 · Cited by 10
“The sagittal, metopic, and lambdoid sutures are formed by the closing of a membranous gap between initially widely separated bony plates.(22) At the coronal suture, in contrast, the bones are closely apposed very early in development, with the parietal bone overlapping the frontal bone.”
BackgroundInfluentialVu, G. H., Mazzaferro, D. M., Kalmar, C. L., Zimmerman, C. E., Humphries, L. S., Swanson, J. W., Bartlett, S. P. P., & Taylor, J. A. (2020) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000006492 · Cited by 10
“Finally, the IOA was significantly more acute in NSSS compared with controls, reflecting the characteristic anterior-posterior expansion, mediolateral constriction, and occipital bulleting of the NSSS skull.(12,13,29,37)”
BackgroundResultThe Neural Crest and Craniofacial Malformations
ten Donkelaar, H. J., Vermeij‐Keers, C., & Mathijssen, I. M. J. (2014) · Springer eBooks · doi:10.1007/978-3-642-54687-7_5 · Cited by 10
Genetic background dependent modifiers of craniosynostosis severity
Dudakovic, A., Nam, H. K., van Wijnen, A. J., & Hatch, N. E. (2020) · Journal of Structural Biology · doi:10.1016/j.jsb.2020.107629 · Cited by 9
“This condition can lead to high intracranial pressure, abnormal skull and facial shapes, blindness, seizures and brain abnormalities (Flapper et al., 2009; McCarthy et al., 2012; Morriss-Kay and Wilkie, 2005; Okajima et al., 1999; Rasmussen et al., 2008; Seruya et al., 2011).”
BackgroundSex Differences in Comorbidities of Pediatric Craniosynostosis at Presentation
Presto, P., Collins, R. A., Garza, J., Zeitouni, O. F., & Nagy, L. (2022) · Pediatric Neurosurgery · doi:10.1159/000528745 · Cited by 9
Agushi, R., Scagnet, M., Spacca, B., Mura, R., Grandoni, M., Mussa, F., & Genitori, L. (2023) · Journal of Neurosurgery Pediatrics · doi:10.3171/2023.2.peds22409 · Cited by 10
A physico-mechanical model of postnatal craniofacial growth in human
Liang, C., Marghoub, A., Profico, A., Buzi, C., Didziokas, M., van de Lande, L. S., Khonsari, R. H., Johnson, D., O’Higgins, P., & Moazen, M. (2024) · iScience · doi:10.1016/j.isci.2024.110617 · Cited by 9
“3,33 For example, the rapid calvarial growth in the first 12 months of life is mirrored in the high level of strains in the calvarial region (at both sutures and bones).”
Ye, H., Cao, L., Jackson‐Weaver, O., Zheng, L., & Gou, Y. (2023) · Bone · doi:10.1016/j.bone.2023.116887 · Cited by 9
Dentici, M. L., Niceta, M., Lepri, F. R., Mancini, C., Priolo, M., Bonnard, A. A., Cappelletti, C., Leoni, C., Ciolfi, A., Pizzi, S., et al. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01642-7 · Cited by 9
“The premature closure of one or more cranial sutures (i.e., craniosynostosis) is generally associated with compensatory cranial growth at other sutures resulting in skull deformation and variable dysmorphic craniofacial features [6].”
Goh, L. C., Ali, A., Siti, H. B. K., Khoo, W. V., Muthukumarasamy, P., Thong, M., Bakar, Z. A., & Manuel, A. M. (2018) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2018.03.010 · Cited by 9
Craniosynostosis: current conceptions and misconceptions
Fonteles, C. S. R., Finnell, R. H., George, T. M., & Harshbarger, R. J. (2016) · Global Medical Genetics · doi:10.3934/genet.2016.1.99 · Cited by 9
“The coronal and sagittal sutures provide the greatest contributions to skull growth [73].”
BackgroundDurham, E. L., Howie, R. N., Black, L. E., Bennfors, G., Parsons, T. E., Elsalanty, M. E., Yu, J. C.-K., Weinberg, S. M., & Cray, J. (2016) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23543 · Cited by 9
“%) and most cases of craniosynostosis are classified as non-syndromic with unknown genetic etiology (Johnson and Wilkie, 2011; Morriss-Kay and Wilkie, 2005; Twigg and Wilkie, 2015; Wilkie, 1997; 2000; Wilkie et al., 2007; Wilkie and Wall, 1996).”
BackgroundVrankova, Z. M., Křivánek, J., Daněk, Z., Zelinka, J., Brýšová, A., Hollá, L. I., Hartsfield, J. K., & Linhartová, P. B. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1117493 · Cited by 10
“TWIST1 acts through Eph–ephrin interactions to regulate the development of the boundary that forms the coronal suture (104).”
BackgroundGilbert, J., Karski, M. R., Smith, T. D., Burrows, A. M., Norbutt, C., Siegel, M. I., Costello, B. J., Cray, J., Losee, J. E., Moursi, A. M., et al. (2015) · The Cleft Palate-Craniofacial Journal · doi:10.1597/14-298 · Cited by 8
“…congenital disorder that is charac- terized by the premature osseous obliteration of one or more cranial sutures and has a prevalence of approximately 0.4/1000 live births (Cohen and MacLean, 2000; Bonaven- ture and El Ghouzzi, 2003; Cohen, 2005; Morriss-Kay and Wilkie, 2005; Slater et al., 2008).”
BackgroundInfluential3D-μCT Cephalometric Measurements in Mice
de, F., Alvarez-Suarez, A., Costilla, S., Noval, I., Josephine Flora, A., & Cobo, J. L. (2011) · InTech eBooks · doi:10.5772/24234 · Cited by 8
Spear, G. S. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31473 · Cited by 8
“Notably, mutations have been increasingly identified in craniosynostosis [Morriss-Kay and Wilkie, 2005], and mutations in homeobox genes have been associated with the combination of skeletal dysplasia with asplenia [Tribioli and Lufkin, 1999; Akazawa et al., 2000; Patterson, 2000].”
BackgroundSchmelzer, R. E., & Fearon, J. A. (2007) · Journal of Craniofacial Surgery · doi:10.1097/scs.0b013e318052feee · Cited by 8
The Embryology and Anatomy of the Cerebellum
Balaei, M. R., Ashtari, N., & Bergen, H. (2017) · Contemporary clinical neuroscience · doi:10.1007/978-3-319-59749-2_2 · Cited by 8
“As the edges of the neural groove fuse to form the neural tube, which detaches from the ectoderm, a population of the neuroectodermal cells dissociate from the neural fold as the neural crest cells [1].”
BackgroundIsolated Intraorbital Frontosphenoidal Synostosis
Mittermiller, P. A., Yeom, K. W., & Menard, R. M. (2017) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000004074 · Cited by 8
Kampf, S., Micko, A. S. G., Schwartz, E., Schopper, C., & Reinprecht, A. (2020) · International Journal of Oral and Maxillofacial Surgery · doi:10.1016/j.ijom.2020.02.017 · Cited by 8
Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome
Lü, M., Yang, B., Chen, Z., Jiang, H., & Pan, B. (2021) · The Cleft Palate-Craniofacial Journal · doi:10.1177/10556656211037509 · Cited by 8
“This means that reduction of CNCC or interruptions of its normal proliferation, precise migration, and differentiation at specific embryonic time windows will lead to craniofacial deformity (Jiang et al., 2002; Morriss-Kay and Wilkie, 2005).”
BackgroundIntegumentary, Skeletal, and Muscular Systems
Carlson, B. M. (2009) · Elsevier eBooks · doi:10.1016/b978-0-323-05385-3.50013-1 · Cited by 8
What Do Animal Models Teach Us About Congenital Craniofacial Defects?
Ibarra, B. A., & Atit, R. P. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-2389-2_6 · Cited by 7
Nam, H. K., Veselá, I., Schutte, S. D., & Hatch, N. E. (2020) · PLoS ONE · doi:10.1371/journal.pone.0234073 · Cited by 7
Overview of the Development of the Human Brain and Spinal Cord
ten Donkelaar, H. J., Takakuwa, T., Vasung, L., Yamada, S., Shiota, K., & van der Vliet, T. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_1 · Cited by 8
Endoscopic-assisted Treatment of Sagittal Craniosynostosis and Calcified Cephalohematoma
Nguyen, D. C., Patel, K. B., Woo, A. S., Kane, A. A., & Smyth, M. D. (2014) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000001092 · Cited by 8
Bone up: craniomandibular development and hard-tissue biomineralization in neonate mice
Thompson, K. D., Weiss‐Bilka, H. E., McGough, E. B., & Ravosa, M. J. (2017) · Zoology · doi:10.1016/j.zool.2017.01.002 · Cited by 7
Parasagittal Suture After Strip Craniectomy
Kinsella, C. R., Cray, J., Cooper, G. M., Pollack, I. F., & Losee, J. E. (2010) · Journal of Craniofacial Surgery · doi:10.1097/scs.0b013e3181f6c488 · Cited by 7
Phenotypic variability in Muenke syndrome—observations from five Danish families
Öwall, L., Kreiborg, S., Dunø, M., Hermann, N. V., Darvann, T. A., & Hove, H. (2019) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000300 · Cited by 7
“Transmission is autosomal dominant and it is estimated to occur in 6–8% of all craniosynostosis cases, and in 30% of all cases with coronal synostosis (Morriss-Kay and Wilkie, 2005).”
BackgroundDevelopment of the head and neck
(2008) · Elsevier eBooks · doi:10.1016/b978-0-443-06684-9.50043-3 · Cited by 7
Bukowska‐Olech, E., Dmitrzak‐Węglarz, M., Larysz, D., Wojciechowicz, B., Simon, D., Walczak‐Sztulpa, J., & Jamsheer, A. (2020) · Birth Defects Research · doi:10.1002/bdr2.1744 · Cited by 6
“The impaired function of sutures, defined as their single or compound premature closure, results in cranial defects referred to as craniosynostosis (CS) (Morriss-Kay & Wilkie, 2005).”
BackgroundDivergent patterns of cranial suture fusion in marsupial and placental mammals
White, H., Tucker, A. S., & Goswami, A. (2024) · Zoological Journal of the Linnean Society · doi:10.1093/zoolinnean/zlae060 · Cited by 6
Relaxin Does Not Rescue Coronal Suture Fusion in Craniosynostotic Rabbits
Cray, J., Burrows, A. M., Vecchione, L., Kinsella, C. R., Losee, J. E., Moursi, A. M., Siegel, M. I., Cooper, G. M., & Mooney, M. P. (2011) · The Cleft Palate-Craniofacial Journal · doi:10.1597/11-024 · Cited by 6
“The collagen fibers within the suture are mainly adapted to resist compression or tension at the growth site (Morriss-Kay and Wilkie, 2005; Herring, 2008).”
BackgroundExpression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia
Pawłowska, E., Wójcik, K. A., Synowiec, E., Szczepańska, J., & Błasiak, J. (2015) · Acta Biochimica Polonica · doi:10.18388/abp.2014_866 · Cited by 6
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway
Vogiatzi, A., & Mavrothalassitis, G. (2019) · Expert Reviews in Molecular Medicine · doi:10.1017/erm.2019.2 · Cited by 6
New Insights on Properties and Spatial Distributions of Skeletal Stem Cells
Liu, J., Li, Q., & Tan, Z. (2019) · Stem Cells International · doi:10.1155/2019/9026729 · Cited by 6
“Premature closure of the suture characterizes craniosynostosis, a developmental craniofacial deformity accompanying with a series of severe consequences including increased intracranial pressure and craniofacial dysmorphism [102].”
BackgroundMajor skull manifestations of skeletal dysplasias — pictorial essay
Calder, A. D., Gaunt, T., Hickson, M. L., Mankad, K., & Wilson, L. C. (2020) · Pediatric Radiology · doi:10.1007/s00247-019-04473-7 · Cited by 6
Sagittal suture morphological variation in human archaeological populations
Cheronet, O., Ash, A., Anders, A., Dani, J., Domboróczki, L., Drozdová, E., Francken, M., Jovanovic, M., Milašinović, L., Pap, I., et al. (2021) · The Anatomical Record · doi:10.1002/ar.24627 · Cited by 5
Metadata
- 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
- 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
- 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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