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Crouzon syndrome - A rare case report.

Vidhya Kalanjiam¹, G V Murali Gopika Manoharan¹

¹Department of Oral Medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu, India.

International Journal of Health Sciences

|November 1, 2017

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Crouzon syndrome, a common craniosynostosis, results from fibroblast growth factor receptor-2 gene mutations. Early diagnosis and management in a young female patient led to a normal life.

Area of Science:

Genetics
Pediatrics
Craniofacial Surgery

Background:

Crouzon syndrome is the most frequent craniosynostosis syndrome, affecting approximately 4.8% of cases.
It exhibits autosomal dominant inheritance with complete penetrance and variable expressivity.
Characterized by craniosynostosis, exophthalmos, and midface hypoplasia.

Observation:

This paper details the diagnosis of Crouzon syndrome in a young female.
Diagnosis was based on comprehensive clinical and radiographic evaluations.
The patient presented with classic features of the syndrome.

Findings:

A mutation in the fibroblast growth factor receptor-2 (FGFR2) gene was identified as the cause.
The genetic basis of this rare disorder was confirmed.

Keywords:

Craniofacial dysostosis craniosynostosis crouzon syndrome exophthalmos

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The patient's specific mutation contributed to her presentation.

Implications:

Early and accurate diagnosis is crucial for effective management of Crouzon syndrome.
Timely intervention significantly improves patient outcomes, enabling a normal life.
This case highlights the importance of genetic analysis in craniofacial disorders.