This educational exhibit aims to present a comprehensive structured reporting framework for assessing skeletal dysplasia. By providing a systematic approach, we aim to facilitate better classification, diagnosis, and understanding of various skeletal dysplasia entities. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Kumar Ishan, Aggarwal Priyanka, Verma Ashish

Keywords: Skeletal Dysplasia, Structured Reporting, X-Ray

Diffuse osteosclerosis in pediatric patients can present diagnostic challenges due to overlapping features with conditions such as osteopetrosis, dysosteosclerosis, and pyknodysostosis. A 1-year-old male infant, born to non-consanguineous parents presented with global developmental delays, motor and speech impairments, and distinct craniofacial abnormalities. Notable features included macrocephaly, midfacial hypoplasia, and the presence of wormian bones. Clinical examination noted prominent veins over the skull, marked sutural markings, and wide wrists. Laboratory tests indicated anisocytic hypochromic anemia. An MRI of the brain demonstrated asymmetric ventriculomegaly, with deposits identified in the right orbits. The patient's family history included a sibling who had a history of Type 1 diabetes mellitus and juvenile idiopathic arthritis, who passed away at the age of three. Radiographic evaluation revealed diffuse osteosclerosis of the vertebrae and ribs, a “bone within bone” appearance in both ilia, and bilateral femora showed Erlenmeyer flask deformity. Additional findings included diphyseal sclerosis with focal segmental cortical thickening in both tibiae and patchy sclerosis observed in the metaphysis. Similar findings were seen in metacarpals. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Kumar Ishan, Aggarwal Priyanka, Verma Ashish

Keywords: Osteopetrosis, X-Ray, Histiocytosis