Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication

Area of Science:

• Genetics
• Pediatric Surgery
• Developmental Biology

Background:

• Sagittal craniosynostosis, the most common nonsyndromic craniosynostosis, often results in scaphocephaly and is more prevalent in males.
• Craniosynostosis can be associated with genetic abnormalities, necessitating advanced diagnostic techniques.

Purpose of the Study:

• To report a previously unrecognized association between chromosome 16p13.3 duplication and sagittal craniosynostosis.
• To emphasize the diagnostic utility of chromosomal microarray analysis in syndromic craniosynostosis.

Main Methods:

• Case presentation of a 2-month-old boy with sagittal craniosynostosis.
• Utilized chromosomal microarray analysis (CMA) to detect a chromosome 16p13.3 duplication, despite a normal karyotype.
• Documented clinical features including dysmorphic facies, cardiac defects, and undescended testes.

Main Results:

• The patient presented with sagittal craniosynostosis and a novel chromosome 16p13.3 duplication.
• Surgical intervention (cranial vault remodeling) at 23 months led to significant improvement in head shape.
• Follow-up revealed a normal head shape but indicated mild developmental delay.

Conclusions:

• Chromosomal microarray analysis is invaluable for diagnosing syndromic craniosynostosis, even with a normal karyotype.
• This case highlights a new association between chromosome 16p13.3 duplication and craniosynostosis.
• Multidisciplinary care is essential for managing complex cases involving genetic abnormalities and craniofacial anomalies.