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Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2023

Open Access 01-12-2023 | Strabismus | Case report

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report

Authors: Yuling Niu, Jin Xu, Rushan Ye, Zixian Dai, Ling Jin, Wenwen Geng

Published in: Journal of Medical Case Reports | Issue 1/2023

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Abstract

Background

Crouzon syndrome, a rare genetic disorder characterized by premature closure of coronal sutures, results in skull and facial deformities along with abnormal brain and ocular development.

Case presentation

Here, we report a case of a 27-year-old ethnic han male patient who presented with complex binocular strabismus secondary to Crouzon syndrome. At the time of surgery, extraocular muscles were found to be fibrotic and results of the pathological examination revealed degeneration of muscle fibers, which were replaced by adipose tissue. The entire exome sequencing DNA testing indicated that the patient and his father possessed the fibroblast growth factor receptor 2 (FGFR2) gene c.G812T:p.G271V heterozygous mutation. Binocular strabismus corrective surgery was performed in this patient with a satisfactory outcome.

Conclusions

This case demonstrates that Crouzon syndrome patients can show an FGFR2 gene c.G812T:p.G271V mutation and display clinical symptoms such as extraocular muscle fibrosis, exotropia, exophthalmos, and a pointed head deformity.
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Metadata
Title
Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report
Authors
Yuling Niu
Jin Xu
Rushan Ye
Zixian Dai
Ling Jin
Wenwen Geng
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2023
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-022-03709-9

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