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Case Report

A fracture, a family, legal entanglement, expensive investigation, and a familiar disease

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Pages 97-100 | Published online: 10 Sep 2018
 

Abstract

Osteogenesis imperfecta can be commonly mistaken for child abuse because of similar pattern of injuries. AA is a 3-week-old baby who presented to our emergency department with excessive crying. Skeletal survey revealed subacute spiral fracture of the right humerus, right posterior eighth and ninth ribs, acute fracture of the left femur, bowing of tibia and femur, and osteopenia. Subsequent geneticist examination and genetic testing noted blue sclera and heterozygosity for a variant of COL1A gene.

Disclosure

The authors report no conflicts of interest in this work.