2012Journal of Craniofacial SurgeryRequires access

Apert Syndrome in a Newborn Infant Without Craniosynostosis

Sivaroopi Coomaralingam, Philip Röth

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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.

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What this paper is about

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.

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OpenAlex reports 11 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Apert syndrome, Craniosynostosis, Medicine, Craniosynostoses, Dysostosis, Pediatrics, Surgery, Congenital disease

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