Osteogenesis imperfecta and congenital diaphragmatic hernia

Shamik Dholakia; Stuart Cleeve

doi:10.1136/bcr-2012-007341

Osteogenesis imperfecta and congenital diaphragmatic hernia

BMJ Case Rep. 2013 Jan 22:2013:bcr2012007341. doi: 10.1136/bcr-2012-007341.

Authors

Shamik Dholakia¹, Stuart Cleeve

Affiliation

¹ Department of Paediatric Surgery, John Radcliffe Hospital, Oxford, UK. sd303@ic.ac.uk

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Diagnosis, Differential
Digestive System Surgical Procedures / methods
Follow-Up Studies
Hernia, Diaphragmatic / diagnosis
Hernia, Diaphragmatic / surgery
Hernias, Diaphragmatic, Congenital*
Humans
Infant
Male
Osteogenesis Imperfecta / diagnosis*
Tomography, X-Ray Computed