- Remind the classification of this heterogeneous group of disorder. - Suggest a systematic approach to come up with the right diagnosis. - Illustrate,
through our experience,
some of these disorders and their main differential diagnosis.
Constitutional bone disorders are a wide ranged spectrum that includes conditions affecting the growth,
the structure or the morphology of the skeleton. Many classifications have been suggested and none of them offered a systematic approach. The most common one classify these diseases into two groups: osteochondrodysplasias,
which are associated with abnormalities of growth (dysplasias) or texture (osteodystrophies) of bone and / or cartilage; and dysostoses,
which are abnormalities of the...
Findings and procedure details
We retrospectively reviewed the imaging findings of patients diagnosed with congenital bone disorders. 15 patients were enrolled in our study.
We counted 9 males and 6 females with an average age of 3.5 years old. Plain radiography was the main imaging modality and was performed in all our patients. Findings were as follow: osteoporosis in 4 cases,
achondroplasia in 4 cases,
Pyle’s disease in 2 cases,
Leri-weil syndrome in 1 case,
osteogenesis imperfecta in 1 case,
Congenital bone disease is a wide spectrum of pathology that may include many associated entities.
Plain radiography is the main imaging modality that lead in most cases in presence of clinical symptoms to the right diagnosis.
Imaging Findings of Metabolic Bone Disease.
2016 Oct;36(6):1871-1887 Maroteaux P.,Le MerrerM.
Les maladies osseuses de l'enfant.
Paris.Médecine Sciences Publications,