Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

Isolated Fibrous Dysplasia of the Bilateral Nasal Bones: Complex Management of the Bony Vault.

Fibrous dysplasia is a benign fibro-osseous process affecting the skeletal system, with resulting cystic and fibrous tissue expansion. Craniofacial fibrous dysplasia represents a small subset of monostotic disease, accounting for approximately 10%-25% of all such cases. Involvement of the frontal, temporal, and sphenoid bones has most commonly been described, with a limited number of reported cases citing disease isolated to the nasal bones.

Thirty-Year Experience Treating Syndromic Craniosynostosis: Long-Term Outcomes following Cranial Expansions.

Background: Children with syndromic craniosynostosis require multiple cranial expansion procedures. The purpose of this study was to determine how many expansions are typically performed through maturity, to assess complication rates, and to identify trends that might reduce the burden of care.

Methods: A retrospective chart review was conducted of all consecutive patients undergoing cranial vault enlargement procedures for syndromic craniosynostosis performed by a single surgeon.

Secondary Corrections for Single-Suture Craniosynostosis: Perioperative Outcomes and Predisposing Factors.

Background: Many single-suture craniosynostosis corrections end up needing secondary remodeling procedures. The authors sought to determine whether these more complicated operations carry higher complication rates, and to explore potential predisposing factors.

Methods: The authors performed a retrospective chart review of all patients undergoing primary and secondary remodeling corrections at a single center, between 2010 and 2020.