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Updated: Apr 17, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Craniosynostosis and risk factors related to thyroid dysfunction
S L Carmichael1, C Ma, S A Rasmussen
1Department of Pediatrics, Division of Neonatology and Developmental Medicine, Stanford University School of Medicine, Stanford, California.
Maternal thyroid disease is linked to craniosynostosis risk. Risk factors for thyroid disease, like younger maternal age and fertility treatments, were also associated with craniosynostosis in undiagnosed women.
Area of Science:
- Reproductive health
- Pediatric congenital disorders
- Endocrinology
Background:
- Thyroid disease is common in women of reproductive age and often undiagnosed.
- Maternal thyroid disease is a known risk factor for craniosynostosis in offspring.
- Undiagnosed thyroid dysfunction may contribute to craniosynostosis risk.
Purpose of the Study:
- To investigate if known risk factors for thyroid disease are associated with craniosynostosis risk in women without diagnosed thyroid disease.
- To explore the link between maternal thyroid dysfunction risk factors and craniosynostosis.
Main Methods:
- Utilized data from the National Birth Defects Prevention Study.
- Included mothers of 1,067 craniosynostosis cases and 8,494 population-based controls.
- Employed multivariable logistic regression to calculate adjusted odds ratios (AOR) and 95% confidence intervals (CI).
Main Results:
- Younger maternal age (<25 years) showed a reduced risk of craniosynostosis (AOR 0.7, 95% CI 0.6-0.9).
- Black or other race-ethnicity was associated with reduced craniosynostosis risk (AOR 0.3-0.6).
- Fertility medications/procedures increased craniosynostosis risk (AOR 1.5, 95% CI 1.2-2.0), while alcohol consumption showed a reduced risk (AOR 0.8, 95% CI 0.7-0.9).
Conclusions:
- Risk factors associated with thyroid dysfunction align with their associations with craniosynostosis risk.
- Findings support the hypothesis that thyroid dysfunction risk factors are linked to craniosynostosis.
- Further understanding of maternal thyroid function's role in craniosynostosis is crucial due to the condition's morbidity and thyroid disease's under-diagnosis.
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