Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature.

ABSTRACT:

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,

SUBMITTER: Bobyn A 

PROVIDER: S-EPMC8857419 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature