title: Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.
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.
authors.affiliation: Department of Radiology, St. Luke's International Hospital, 9-1 Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan. handa-tky@umin.ac.jp.
authors.forename: Atsuhiko
authors.initials: A
authors.lastname: Handa
authors.affiliation: Department of Radiology, St. Luke's International Hospital, 9-1 Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Okajima
authors.affiliation: Department of Integrated Women's Health, St. Luke's International Hospital, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Izumi
authors.affiliation: Department of Integrated Women's Health, St. Luke's International Hospital, Tokyo, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Yamanaka
authors.affiliation: Department of Radiology, St. Luke's International Hospital, 9-1 Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Kurihara
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Bent bone dysplasia; Bowed long bones; Craniosynostosis; FGFR2; Fetus; Fibroblast growth factor receptor 2 type (BBD-FGFR2); Radiography; Skeletal dysplasia