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Lateral view skull X-ray showing the enlarged mandible and skull.

Lateral view skull X-ray showing the enlarged mandible and skull.

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Introduction: Craniodiaphyseal dysplasia is a very rare autosomal recessive disorder which is typically presented in infancy and characterised by severe form of bone dysplasia, massive bone sclerosis and hyperostosis. This process of bone changes characteristically affects the facial bones resulting in severe facial deformity. Case presentation: A-...

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... serum calcium, phosphate and parathyroid hormones were normal while the serum alkaline phosphatase was elevated. Plain X-ray of skull, pelvis, vertebrae and lower limbs showed evidence of cortical thickening and generalised osteosclerosis, Fig. 1. CT-scan and MRI of the head showed diffuse skull bones thickening with normal brain and normal pituitary gland, Figs. 2 and 3. PET-scan showed diffuse uptake in skull region, Fig. 4. The tibia histopathology showed wide cortices, enhanced bone remodelling and exclusively woven to lamellar bony trabeculae. The patient received ...

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