The Influence of Epigenetic Factors in Four Pairs of Twins With Non-Syndromic Craniosynostosis
Abstract
The aims of this retrospective case series were to investigate whether twins born with craniosynostosis mirrored each other regarding operative surgery performed, age of undertaking surgery; outcomes in speech, language, and developmental milestones and what environmental factors were present for each set of twins. Case selection was based on clinical and radiographical evidence of craniosynostosis amongst twin sets. The twin sets included were those with craniosynostosis who had different sutures affected or those with the same suture affected but with a varying degree of severity. The presence of the following factors may have played an influential role in the clinical presentation of the twins; these were as follows: a maternal history of smoking, breech presentation, and genetic mutations. It was notable that the overall outcomes for the twins in this study were similar. These cases highlight the multifactorial nature in the development of craniosynostosis and how this influenced the phenotypic presentation of the twins.
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Breech presentation is correlated with sCS, with OR=2.39.
“At birth, there are some phenotypes that has been seen to correlate with sCS, from high weight at birth ≥ 4000 g (OR 1.61–2.91) [2, 82] to very low birth weight < 2500 g (OR = 1.5–2.32) [29, 102]), also to breech presentation (OR = 2.39) [63, 102].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [63]
Maternal smoke is one of the first and most documented risk factors for CS, with OR 1.48-5.12 for sagittal suture fusion.
“Maternal smoke is one of the first and most documented risk factors for the insurgence of CS with OR 1.48–5.12 [15, 63, 69] for sagittal suture fusion.”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [63]
Discordant phenotypes in genetically identical twins carrying the same variant, as reported for AXIN2 and ERF, suggest that genetic predisposition alone may not fully determine the phenotype and that additional modifiers are likely involved.
“The observation of discordant phenotypes in genetically identical twins carrying the same variant, as reported for AXIN2 and ERF, further suggests that genetic predisposition alone may not fully determine the phenotype and that additional modifiers are likely involved [63, 118].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [63]
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- Authors
- Farooq, S., Morton, J., Lloyd, M., & Krishna, S. T.
- Affiliations
- Birmingham Women's Hospital (GB)
- West Midlands Clinical Genetics Service
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- Corresponding author
- Farooq, Saadia
- Lloyd, Mark
- Venue
- Journal of Craniofacial Surgery
- Published
- 2020-01
- Volume
- 31
- Issue
- 1
- Pages
- 283-285
- ISSN
- 1049-2275 (ISSN-L)
- 1536-3732
- OpenAlex
- W2990150709
- Cited by
- 10
- References
- 17
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 3
- FWCI
- 0.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Craniofacial Surgery (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Health Sciences › Medicine › Surgery › Pectus Deformity Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Keywords
- nonsyndromic craniosynostosis, twins, epigenetics, environmental factors, maternal smoking, breech presentation, genetic mutations, craniosynostosis surgery, developmental outcomes, speech and language outcomes, developmental milestones, multifactorial etiology
- MeSH terms
- Craniosynostoses, Female, Health Status, Humans, Infant, Male, Pregnancy, Retrospective Studies, Smoking, Twins, Epigenesis, Genetic
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