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Crouzon syndrome in an infant: a rare case report

Year: 2025

Type: article

Abstract: Crouzon syndrome is a rare craniosynostosis syndrome, accounting for approximately 4.5% of cases, and is most often caused by pathogenic variants in the FGFR2 gene. We report the case of a 7-month-old male infant presenting with abnormal cranial shape since birth, progressive proptosis, and developmental delay.

Source: MGM Journal of Medical Sciences

DOI: 10.4103/mgmj.mgmj_259_25

Authors: Azmathulla Khan, Mithila Das Mazumder, Divyasree Chimata, Ghouseya Begam, Rakshitha Prasad

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: diamond

OpenAlex ID: W7117545709

FWCI:

Cites: 6

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