Cited by 32Craniofacial Disorders and TreatmentsThyroid Disorders and TreatmentsCleft Lip and Palate Research

Craniosynostosis and risk factors related to thyroid dysfunction

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Carmichael, S.L., Ma, C, Rasmussen, S.A., Cunningham, M.L., Browne, M.L., Dosiou, C, Lammer, E.J., Shaw, G.M.·2015·American Journal of Medical Genetics Part A

Abstract

Thyroid disease is a common problem among women of reproductive age but often goes undiagnosed. Maternal thyroid disease has been associated with increased risk of craniosynostosis. We hypothesized that known risk factors for thyroid disease would be associated with risk of craniosynostosis among women not diagnosed with thyroid disease. Analyses included mothers of 1,067 cases and 8,494 population‐based controls who were interviewed for the National Birth Defects Prevention Study. We used multivariable logistic regression to estimate adjusted odds ratios (AOR) and 95% confidence intervals (CI). After excluding women with diagnosed thyroid disease, younger maternal age (AOR 0.7, 95% CI 0.6–0.9, for <25 years versus 25–29), black or other race‐ethnicity (AOR 0.3, 95% CI 0.2–0.4 and AOR 0.6, 95% CI 0.4–0.8, respectively, relative to non‐Hispanic whites), fertility medications or procedures (AOR 1.5, 95% CI 1.2–2.0), and alcohol consumption (AOR 0.8, 95% CI 0.7–0.9) were associated with risk of craniosynostosis, based on confidence intervals that excluded 1.0. These associations with craniosynostosis are consistent with the direction of their association with thyroid dysfunction (i.e., younger age, black race‐ethnicity and alcohol consumption are associated with reduced risk and fertility problems are associated with increased risk of thyroid disease). This study thus provides support for the hypothesis that risk factors associated with thyroid dysfunction are also associated with risk of craniosynostosis. Improved understanding of the potential association between maternal thyroid function and craniosynostosis among offspring is important given that craniosynostosis carries significant morbidity and that thyroid disease is under‐diagnosed and potentially modifiable. © 2015 Wiley Periodicals, Inc.

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Crossref · 10.1002/ajmg.a.36953

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  • Maternal thyroid disease is linked to increased risk of CS, with reported ORs ranging from 1.3 to 2.11.

    “Maternal thyroid disease has also been linked to an increased risk of CS, with reported ORs ranging from 1.3 to 2.11 [56, 93], consistent with the well-established role of thyroid hormones in skeletal development.”

    From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [56]

    The Results report an adjusted OR of 1.4 for maternal thyroid disease and craniosynostosis overall, supporting the stated link, although its 95% CI (0.9–1.9) includes 1. The paper does not report the claimed OR range of 1.3 to 2.11; its reported OR for multiple affected sutures is 3.0. (LLM, conf=0.88)

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  • Young maternal age has a protective effect for sCS, with OR 0.6.

    “Firstly, advanced maternal age (> 35 years) has been found to highly correlate with sagittal suture fusion, with an OR ranging from 2.01 to 2.32 [2, 82, 93, 102], while young maternal age has a protective effect OR 0.6 [56].”

    From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [56]

    The Results (page not provided) associate younger maternal age (<25 versus 25–29 years) with lower odds of craniosynostosis, but report an OR of 0.7, not 0.6. The study reports an association rather than establishing a protective causal effect. (LLM, conf=0.88)

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  • Lower risks of sCS have been observed in black individuals (OR = 0.2).

    “lower risks have been observed in black (OR = 0.2), Hispanic (OR = 0.4), and other racial or ethnic groups (OR = 0.6) [56, 96]”

    From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [56]

    The Results section reports lower odds of craniosynostosis among infants born to Black mothers, but gives an adjusted OR of 0.3 (95% CI 0.2–0.4), not the claimed OR of 0.2. The reported estimate also excludes mothers who reported thyroid disease. (LLM, conf=0.88)

    Experimental — accuracy not yet measured
  • Lower risks of sCS have been observed in Hispanic individuals (OR = 0.4).

    “lower risks have been observed in black (OR = 0.2), Hispanic (OR = 0.4), and other racial or ethnic groups (OR = 0.6) [56, 96]”

    From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [56]

    The Results say that risk of coronal synostosis was not reduced among infants of Hispanic mothers, implying a reduction for at least some other suture types. But the available Results passages do not give an OR of 0.4 for Hispanic mothers or establish that estimate for craniosynostosis overall. (LLM, conf=0.76)

    Experimental — accuracy not yet measured
  • Maternal alcohol consumption is associated with odds ratios close to unity (OR ~0.8-1.0) for sCS.

    “Maternal alcohol consumption has been associated with odds ratios close to unity (OR ~ 0.8–1.0) for sCS [56, 65], but this does not imply a protective effect and does not modify existing recommendations to abstain from alcohol during pregnancy.”

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Authors
Carmichael, S. L., Ma, C., Rasmussen, S. A., Cunningham, M. L., Browne, M. L., Dosiou, C., Lammer, E. J., & Shaw, G. M.
Affiliations
  • Stanford Medicine (US)
  • Centers for Disease Control and Prevention (US)
  • University of Washington (US)
  • New York State Department of Health (US)
  • UCSF Benioff Children's Hospital (US)
Corresponding author
Ma, C
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2015-02-05
Volume
167
Issue
4
Pages
701-707
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
OpenAlex
W1583243752
Cited by
32
References
50
Citations by year
2026: 3 · 2025: 2 · 2024: 5 · 2023: 2 · 2022: 8 · 2021: 3 · 2020: 2 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 2
FWCI
1.59
Type
journal article
Language
en
Open access
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (R03DE019521)
  • Centers for Disease Control and Prevention (U01DD001033)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
Keywords
craniosynostosis, maternal thyroid dysfunction, maternal age, race and ethnicity, alcohol consumption, congenital malformations, National Birth Defects Prevention Study
MeSH terms
Adult, Craniosynostoses, Female, Humans, Pregnancy, Pregnancy Complications, Risk Factors, Thyroid Diseases, Thyroid Gland, Case-Control Studies, Young Adult

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