Genetic study of nonsyndromic coronal craniosynostosis
Abstract
From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 ± 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases. © 1995 Wiley‐Liss, Inc.
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The overall prevalence of craniosynostosis is estimated at between 1 in 2100 and 1 in 2500 births.
“The overall prevalence of craniosynostosis has been estimated at between 1 in 2100 and 1 in 2500 births.1,2”
From Craniosynostosis (2011) · cites this paper as [1]
For families without a molecular or cytogenetic diagnosis and with a negative family history, sibling recurrence risk is estimated at 2% for sagittal/metopic synostosis, 5% for unicoronal synostosis, and 10% for bicoronal/multisuture synostosis.
“Where no molecular or cytogenetic diagnosis is made and the family history is negative, we suggest a sibling recurrence risk of 2% for sagittal and metopic synostosis, 5% for unicoronal synostosis and 10% for bicoronal and multisuture synostosis.”
From Craniosynostosis (2011) · cites this paper as [1]
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References 33 · Cited by 374
- Authors
- Lajeunie, E., Merrer, M. L., Bonaïti‐Pellie, C., Marchac, D., & Renier, D.
- Affiliations
- Inserm (FR)
- Hôpital Necker-Enfants Malades (FR)
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1995-02-13
- Volume
- 55
- Issue
- 4
- Pages
- 500-504
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1988824842
- Cited by
- 374
- References
- 33
- Citations by year
- 2026: 9 · 2025: 9 · 2024: 15 · 2023: 15 · 2022: 20 · 2021: 24 · 2020: 19 · 2019: 20 · 2018: 17 · 2017: 18 · 2016: 20 · 2015: 11 · 2014: 18 · 2013: 11 · 2012: 12
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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 › Surgery › Pectus Deformity Diagnosis and Treatment
- Keywords
- familial aggregation, segregation analysis, dominant inheritance, penetrance, paternal age, prevalence, bicoronal synostosis, unicoronal synostosis, pediatric craniosynostosis
- MeSH terms
- Adult, Craniosynostoses, Female, France, Gene Frequency, Genes, Dominant, Humans, Infant, Newborn, Male, Pedigree, Phenotype, Syndrome
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