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[A case of Pfeiffer syndrome caused by FGFR2 gene variation].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Jun 2022

Zhuang X R, Zhao H S

Abstract excerpt

A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed keratitis in Beijing Tongren Hospital Affiliated to Capital Medical University. The child had skull fusion (clover head), obvious exophthalmos, deformity of fingers and toes, ankylosis of elbow joint or bony fusion, accompanied by neurological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35692028
DOI: 10.3760/cma.j.cn112142-20220226-00077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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