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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1762347339

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

About this item

Full title

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

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Pediatric radiology, 2016-02, Vol.46 (2), p.296-299

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

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 an...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1762347339

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1762347339

Other Identifiers

ISSN

0301-0449

E-ISSN

1432-1998

DOI

10.1007/s00247-015-3465-y

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