Osteogenesis imperfecta

Case contributed by Dr Fabien HO

Presentation

Growth retardation and inability to walk, was referred to our hospital for management and counseling.

Patient Data

Age: 7 years
Gender: Male
Modality: X-ray

All bones are over-transparent suggesting osteopenia. Long bones are deformed due to muscles growth, which osteopenia cannot correct. Multiples fractures of different ages are seen.

Case Discussion

Metaphyses do not appear thickened, compared to rickets. Also, underlying bone is clearly pathological, which does not comply with a possible non accidental injury. 

Note that osteogenesis imperfecta is classified as collagen disease and thus the gamuts are different from congenital bones disease which have normal bone density but particular patterns such as Ellis van Creveld syndrome or achondroplasia.

In this case there is a known familial history of osteogenesis imperfecta. Treatment included surgical correction of vicious-angled bones and bisphosphonates which improve quality of life and pain.

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Case Information

rID: 30781
Case created: 3rd Sep 2014
Last edited: 14th Dec 2015
Inclusion in quiz mode: Included

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