Abstract
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; however we suggest additional hallmarks of this disorder in early gestation. These hallmarks include distinctive short, thick clavicles and wavy ribs, as well as vertebral bodies that showed striking anteroposterior shortening. Femoral fractures were also present in our case. Although craniosynostosis is a hallmark of the disease, clinicians should be aware that craniosynostosis might not be readily apparent on plain films early in gestation.
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Acknowledgments
We express cordial gratitude to Gen Nishimura for helping in the diagnosis and reviewing the literature. We also thank Shuo Takuya for sequence analysis, and Jay Starkey and Ivan DeQuesada for English editing.
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Handa, A., Okajima, Y., Izumi, N. et al. Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation. Pediatr Radiol 46, 296–299 (2016). https://doi.org/10.1007/s00247-015-3465-y
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DOI: https://doi.org/10.1007/s00247-015-3465-y