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

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 r...

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Detalles Bibliográficos
Autores principales: Okpechi, Ujuchukwu, Regis, Kevin, Arcia, Rosibell, Soyemi, Kenneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136399/
https://www.ncbi.nlm.nih.gov/pubmed/30239531
http://dx.doi.org/10.2147/PHMT.S174250
Descripción
Sumario: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.

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