Journal
GENETICS IN MEDICINE
Volume 16, Issue 4, Pages 302-310Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2013.134
Keywords
familial incidence; nonsyndromic craniosynostosis; symptoms
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Funding
- National Institute of Dental and Craniofacial Research/National Institutes of Health [K23 DE00462, R03 DE016342, R01 DE016886]
- Children's Miracle Network Endowed Chair
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Purpose: Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in similar to 75% of cases and are thought to have multifactonal etiology It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates. Methods: We analyzed family histories of 660 mutation-negative, nonsyndromic craniosynostosis patients and symptoms in 189 of these patients. Results: The incidence rate of craniosynostosis was highest for first-degree relatives of probands with metopic craniosynostosis (6.4%), followed by those with complex crarniosynostosis (4.9%), sagittal craniosynostosis (3.8%), lambdoid craniosynostosis (319%), and coronal craniosynostosis (0.7%). Across all suture types, siblings had a greater craniosynostosis incidence rate than parents (7.5 vs. 2.3%). In phenotype comparisons, patients with complex craniosynostosis had the highest frequency of reported symptoms and those With sagittal craniosynostosis had the lowest. Ear infections; palate abnormalities, and hearing problems were more common in complex craniosynostosis patients. Visual problems were more common in coronal craniosynostosis, and metopic craniosynostosis patients noted increased frequency of chronic cough. Conclusion: Our data suggest that the genetic component of non-syndromic craniosynostosis appears to be suture specific. The incidence rate of craniosynostosis among first-degree relatives varies by suture and family member. Additionally, the phenotype of each suture synostosis shows both unique and shared features.
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