Lung function in adult patients with osteogenesis imperfecta: a cohort study.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: Declarations. Ethics approval and consent to participate: This study was approved by the Ethics Committee of canton Vaud, Switzerland (CER Vaud 2018–01673). Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests. 17. Bone Rep. 2022 Feb 8;16:101171. doi: 10.1016/j.bonr.2022.101171. eCollection 2022 Jun. Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature. Bobyn A(1), Jetha M(2), Frohlich B(2), Campbell S(3), Jaremko JL(4), Caluseriu O(1)(2)(5), Grimbly C(2). Author information: (1)Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada. (2)Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada. (3)John W Scott Health Sciences Library Department, University of Alberta, Edmonton, Alberta, Canada. (4)Department of Radiology, University of Alberta, Edmonton, Alberta, Canada. (5)Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. PURPOSE: Metaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with metaphyseal corner fractures and multiple posterior rib fractures who were later found to carry FKBP10 mutations, a rare cause of Osteogenesis Imperfecta (OI) known as Bruck syndrome. This clinical presentation led to a literature review examining fracture types in OI and inflicted injury. CASES: A 15-month-old male presented with multiple healing fractures of varying ages including posterior rib and metaphyseal corner fractures with no history of significant trauma. He had joint laxity, short stature and Wormian bones. His diagnosis of Bruck Syndrome led to investigations in his sibling at birth, which demonstrated the same fracture pattern including multiple posterior rib and metaphyseal corner fractures. They both had pathogenic compound heterozygous FKBP10 variants. LITERATURE REVIEW AND RESULTS: We performed a literature review evaluating the fracture pattern in cases investigated for inflicted injury and found to have OI. Fourteen articles reported 78 children with OI initially diagnosed as inflicted injury. Of these children, 71 (91%) were diagnosed with milder forms of OI (Sillence type I and IV). Sixty-four children (81%) had clinical signs of OI including blue sclera, dentinogenesis imperfecta, short stature, joint laxity and limb bowing. Fifteen (19%) children had fractures of high specificity for inflicted injury including metaphyseal corner fractures and posterior rib fractures and 58 (74%) had fractures of moderate specificity for inflicted injury such as bilateral fractures and fractures of different ages. CONCLUSION: Metaphyseal corner fractures and posterior rib fractures are highly associated with inflicted injury, but they have been reported in children with OI. Bruck syndrome, a rare and severe form of OI can present with metaphyseal and posterior rib fractures, including at birth. When features of OI are present in children with metaphyseal corner fractures and/or posterior rib fractures are present, genetic testing may be warranted. © 2022 The Authors. Published by Elsevier Inc. DOI: 10.1016/j.bonr.2022.101171 PMCID: PMC8857419