Is Isolated Sagittal Synostosis an Isolated Condition?
Abstract
BACKGROUND: Scaphocephaly is the most common type of craniosynostosis. In the medical literature, there is little information about the association of scaphocephaly and other congenital anomalies. PATIENTS AND METHODS: To determine the prevalence of genetic anomalies in scaphocephaly patients, a retrospective review of the medical charts of 30 consecutive patients was performed. A questionnaire was sent to parents to evaluate demographics. RESULTS: The male-female ratio was 2:1, 22% of patients were born at less than 37 weeks gestation, and 4% of the patients were twins. Nineteen percent of mothers smoked during pregnancy, and 23% of the mothers consumed alcohol during pregnancy. Eighteen of the 30 patients visited the department of clinical genetics, whereas the other patients were examined by a pediatrician. Genetic analysis was performed on 8 patients. A genetic mutation on the FGFR-2 gene was found in 1 patient with Gorlin-Goltz syndrome. Except for the basal cell carcinomas and the sagittal synostoses, this patient had no other congenital anomalies. Two other patients had congenital malformations of the heart and kidneys. CONCLUSIONS: This study demonstrates the low incidence of associated congenital anomalies and scaphocephaly. Associated factors of isolated sagittal synostosis are preterm birth and male sex.
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The majority of studies reported an odds ratio of male occurring CS ranging from 1.46 to 4.5, with a geometric mean of ~2.7.
“The majority of the studies studied the odds ratio of male occurring CS with an OR ranging from 1.46 to 4.5 (with geometric mean of ~ 2.7) [2, 3, 15, 26, 50, 53, 74, 80, 82, 86, 96–98, 102, 103, 117].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [53]
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Mathijssen, I. M. J. (2015) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000002016 · Cited by 232 · see citing works
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Tatum, S. A., Jones, L. R., Cho, M., & Sandu, R. (2012) · The Laryngoscope · doi:10.1002/lary.22463 · Cited by 25 · see citing works
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“The majority of the studies studied the odds ratio of male occurring CS with an OR ranging from 1.46 to 4.5 (with geometric mean of ~ 2.7) [2, 3, 15, 26, 50, 53, 74, 80, 82, 86, 96–98, 102, 103, 117].”
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Chen, H. (2016) · Springer eBooks · doi:10.1007/978-1-4614-6430-3_209-2 · Cited by 1 · see citing works
Parental Factors related to Development of Non-Syndromic Craniosynostosis in their ChildrenPreprint
Webb, T., O’Brien, P., Orndahl, C. M., Rhodes, J. L., Navarrete, R. O., & Ritter, A. M. (2022) · Research Square · doi:10.21203/rs.3.rs-1784870/v1
Sagital ve Posteriyor Plagıosefali Cerrahi Komplikasyon Yönetimi
Dalbatan, B., & Karabağlı, H. (2025) · Özgür Yayınları eBooks · doi:10.58830/ozgur.pub1086.c4311
- Authors
- Butzelaar, L., Breugem, C. C., Hanlo, P., & Mink van der Molen, A. B.
- Affiliations
- University Medical Center Utrecht (NL)
- Corresponding author
- Butzelaar, Liselotte
- Breugem, Corstiaan C.
- Venue
- Journal of Craniofacial Surgery
- Published
- 2009-03
- Volume
- 20
- Issue
- 2
- Pages
- 399-401
- ISSN
- 1049-2275 (ISSN-L)
- OpenAlex
- W2011396954
- Cited by
- 10
- References
- 9
- Citations by year
- 2026: 1 · 2025: 1 · 2022: 3 · 2017: 1 · 2016: 1 · 2015: 1 · 2012: 2
- FWCI
- 0.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Craniofacial Surgery (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- 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
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- scaphocephaly, craniosynostosis, congenital malformations, FGFR2 mutations, Gorlin syndrome, preterm birth, male sex, congenital heart disease, renal anomalies
- MeSH terms
- Adult, Alcohol Drinking, Cranial Sutures, Craniosynostoses, Diseases in Twins, Female, Focal Dermal Hypoplasia, Folic Acid, Humans, Infant, Newborn, Infant, Premature, Male, Maternal Age, Mutation, Parietal Bone, Paternal Age, Pregnancy, Pregnancy Complications, Retrospective Studies, Sex Factors, Smoking, Twins, Vitamin B Complex, Receptor, Fibroblast Growth Factor, Type 2
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