DOI: 10.1177/27325016231193701 ISSN:

Syndromic Craniosynostosis in a Child With Fontaine Progeroid Syndrome: A Rare Genetic Disorder and the Surgical Management

Thao Wolbert, Nate Teitler, Lauren Weis, Anna Podber, Jason Miller
  • Applied Mathematics
  • General Mathematics

We present a case of cranial vault remodeling in a patient with Fontaine Progeroid Syndrome. At birth, the patient presented with midfacial retrusion, pansynostosis, and significant agenesis of the central vertex skull. Genetic testing revealed a de novo variant in the SLC25A24 gene, confirming the diagnosis of Fontaine Progeroid Syndrome. For craniosynostotis management of her pansynostosis and the large central vertex agenesis, surgical reconstruction was purposely delayed to allow ossification of the cranial vault. Subsequently, the cranial vault expansion was performed at the age of 4. Intraoperatively, significant dense adherence of bilateral temporal, parietal, and frontal bones to the underlying dural lakes was noted. This is the first case report known in the literature regarding suggested surgical management of the syndromic craniosynostosis with an enormous central skull agenesis.

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