Apert syndrome in a newborn infant without craniosynostosis.

Abstract

Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture. We report a case of Apert syndrome confirmed by molecular genetic analysis in a newborn infant, who did not have craniosynostosis at birth. Because this disturbance in osteogenesis may vary in timing and extent, we suggest that this diagnosis be considered even in the absence of this hallmark finding.

• Authors: Sivaroopi Coomaralingam, Philip Roth
• Journal: The Journal of craniofacial surgery (J Craniofac Surg) Vol. 23 Issue 3 Pg. e209-11 (May 2012) ISSN: 1536-3732 [Electronic] United States
• PMID: 22627435 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptor, Fibroblast Growth Factor, Type 2

Topics

• Acrocephalosyndactylia (diagnosis, genetics, surgery)
• Diagnosis, Differential
• Humans
• Infant, Newborn
• Male
• Receptor, Fibroblast Growth Factor, Type 2 (genetics)