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Cited by 370Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and TreatmentSpinal Dysraphism and Malformations

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Boulet, Sheree L., Rasmussen, Sonja A., Honein, Margaret A.·2008·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.32208
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Abstract

Craniosynostosis is a birth defect characterized by premature fusion of one or more cranial sutures. We describe the birth prevalence of craniosynostosis and related risk factors among infants born to residents of metropolitan Atlanta during 1989–2003. Data from the Metropolitan Atlanta Congenital Defects Program (MACDP) were used to identify infants with craniosynostosis. Case records with a code for craniosynostosis were reviewed to substantiate the diagnosis of craniosynostosis and to classify infants as having isolated craniosynostosis (no other unrelated major defects), multiple defects (one or more additional major, unrelated defects), or a syndrome (recognized or strongly suspected single‐gene condition or chromosome abnormality). Vital records data on births of Georgia residents were used to analyze craniosynostosis prevalence by year of birth, maternal race and age, parity, plurality, and infants' sex, birth weight, and gestational age. We identified 281 infants born with craniosynostosis in metropolitan Atlanta during 1989–2003: 84% with isolated craniosynostosis, 7% with multiple defects, and 9% with syndromes. The birth prevalence was 4.3 per 10,000 births, results consistent with findings from other population‐based studies using similar case definitions. Apert syndrome was diagnosed in 40% of the syndromic cases, and sagittal synostosis was diagnosed in 39% of the cases of nonsyndromic craniosynostosis. Maternal age 35 years or older, multiple birth, male sex, and birth weight >4,000 g were risk factors for craniosynostosis. Published 2008 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 [2]

  • Environmental influences, including in utero mechanical constraints, maternal health conditions, medication exposure, and other prenatal risk factors, have been proposed as contributing factors particularly in non-syndromic cases.

    “Environmental influences have also been proposed as contributing factors, particularly in non-syndromic cases. These include in utero mechanical constraints, maternal health conditions, medication exposure, and other prenatal risk factors [1, 2, 11, 22–25].”

    From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [2]

  • 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 [2]

  • High weight at birth ≥4000 g is correlated with sCS, with OR 1.61-2.91.

    “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 [2]

  • Advanced maternal age (>35 years) is highly correlated with sagittal suture fusion, with OR ranging from 2.01 to 2.32.

    “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 [2]

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Authors
Boulet, S. L., Rasmussen, S. A., & Honein, M. A.
Affiliations
Centers for Disease Control and Prevention (US)
Corresponding author
Boulet, Sheree L.
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2008-03-14
Volume
146A
Issue
8
Pages
984-991
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.32208
OpenAlex
W1994575776
Cited by
370
References
37
Citations by year
2026: 22 · 2025: 21 · 2024: 35 · 2023: 30 · 2022: 36 · 2021: 33 · 2020: 28 · 2019: 19 · 2018: 15 · 2017: 20 · 2016: 16 · 2015: 17 · 2014: 25 · 2013: 17 · 2012: 13
FWCI
4.18
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion, public-domain)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Health Sciences › Medicine › Surgery › Pectus Deformity Diagnosis and Treatment
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
Keywords
craniosynostosis, birth prevalence, risk factors, Apert syndrome, sagittal synostosis, syndromic craniosynostosis, maternal age, multiple births, birth weight, gestational age, congenital birth defects, Atlanta
MeSH terms
Adolescent, Adult, Birth Weight, Craniosynostoses, Female, Georgia, Gestational Age, Humans, Infant, Newborn, Male, Maternal Age, Medical Records, Registries, Risk Factors, Sutures, Syndrome, Urban Population, Prevalence, Sentinel Surveillance

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