Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication
Issued Date
2026-01-01
Resource Type
ISSN
10492275
eISSN
15363732
Scopus ID
2-s2.0-105029770137
Journal Title
Journal of Craniofacial Surgery
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Craniofacial Surgery (2026)
Suggested Citation
Chaisrisawadisuk S., Khampalikit I., Sathienkijkanchai A. Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication. Journal of Craniofacial Surgery (2026). doi:10.1097/SCS.0000000000012485 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/115124
Title
Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication
Author's Affiliation
Corresponding Author(s)
Other Contributor(s)
Abstract
Sagittal craniosynostosis, the most common nonsyndromic form, typically causes scaphocephaly and occurs more often in males. This report describes a 2-month-old boy with sagittal craniosynostosis associated with a rare chromosome 16p13.3 duplication, detected by chromosomal microarray analysis despite a normal karyotype. He had dysmorphic facies, cardiac defects, and undescended testes. At 23 months, he underwent cranial vault remodeling with marked improvement; follow-up showed a normal head shape but mild developmental delay. This case underscores the value of chromosomal microarray in diagnosing syndromic craniosynostosis and highlights the need for multidisciplinary care. It represents a previously unrecognised association between chromosome 16p13.3 duplication and craniosynostosis.