BMJ Case Reports 2013; doi:10.1136/bcr-2012-007341

Osteogenesis imperfecta and congenital diaphragmatic hernia

  1. Stuart Cleeve
  1. Department of Paediatric Surgery, John Radcliffe Hospital, Oxford, UK
  1. Correspondence to Dr Shamik Dholakia, sd303{at}


Osteogenesis imperfecta and congenital diaphragmatic hernia are both conditions that can occur due to genetic mutation. We present the first case to be reported of a child with both osteogenesis imperfecta and congenital diaphragmatic hernias, showing that the incidence of this presentation may be more than chance.

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