The patient was known as "autosomal dominant osteopetrosis" which explains the patient's survival to adulthood. Autosomal dominant osteopetrosis is the less severe type of osteopetrosis.
Here, in this case, there are typical features of osteopetrosis, such as:
- Diffuse thickening and sclerosis of the examined bones with the typical "bone within a bone" appearance and "sandwich vertebrae".
- Pathological fractures of the ribs, both femora, L4 & L5 pars.
- Hepatosplenomegaly is secondary to extramedullary hematopoiesis.