Growth retardation and inability to walk, was referred to our hospital for management and counseling.
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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.
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.
- Osteogenesis imperfecta, orphanet database. Veronique Forin, MD http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=666