Clinical Case Reports (Aug 2024)

Apert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report

  • Navid Faraji,
  • Rasoul Goli,
  • Reza Atharifar,
  • Noushin Shahmirza

DOI
https://doi.org/10.1002/ccr3.9298
Journal volume & issue
Vol. 12, no. 8
pp. n/a – n/a

Abstract

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Key Clinical Message This case details a term neonate with Apert syndrome, featuring webbed digits, FGFR2 mutations, skull bone fusion, a rostral nose, and cleft palate. The neonate displayed acrocephaly, a flat skull back, a prominent forehead, and syndactyly, confirming Apert syndrome. It emphasizes the need for early recognition and intervention.

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