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Article

Novel variant in FGFR2 in a family with anterior segment anomalies.

Ophthalmic genetics - 1 Jun 2026

Chattannavar Goura, Haefeli Lorena M, Procopio Rebecca, Reis Linda M, Capasso Jenina E, Thuma Tobin B T, Semina Elena V, Schneider Adele, Levin Alex V

Abstract excerpt

BACKGROUND: Ocular anomalies reported in FGFR2-related craniosynostosis include refractive errors, exophthalmos, and strabismus. Anterior segment anomalies have occasionally been reported in cases of FGFR2-related craniosynostosis. METHODS: We report a three-year-old boy with unilateral Peters anomaly, short stature, facial dysmorphism, posterior plagiocephaly, heart defects, and developmental delay. His maternal...

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Share to Abnormalities, Multiple
Share to Anterior Eye Segment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

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Share to Receptor, Fibroblast Growth Factor, Type 2

Source

Identifiers

PMID: 41486651
DOI: 10.1080/13816810.2025.2611116

Genes

FGFR2
FGD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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