Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication

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.