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Article

Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.

Pediatric radiology - 1 Feb 2016

Handa Atsuhiko, Okajima Yuka, Izumi Noriko, Yamanaka Michiko, Kurihara Yasuyuki

Abstract excerpt

Bent bone dysplasia-fibroblast growth factor receptor 2 type (BBD-FGFR2) is a recently identified skeletal dysplasia caused by specific FGFR2 mutations, characterized by craniosynostosis and prenatal bowing of the long bones. Only a few cases have been published. We report an affected fetus terminated at 21 weeks of gestation. The clinical and radiologic manifestations mostly recapitulate previous descriptions;...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26446305
DOI: 10.1007/s00247-015-3465-y

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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