Work

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

Year: 2024

Type: article

Abstract: 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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.9298

Authors: Navid Faraji, Rasoul Goli, Reza Atharifar, Noushin Shahmirza

Institution: Urmia University of Medical Sciences

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,730