2021 Volume 37 Issue 1 Pages 25-33
This review article introduces the diagnostic process of skeletal dysplasia in pediatric radiology. The diagnostic process of skeletal dysplasia was established by identification of key findings. Also, recognition of the pathognomonic findings plays an important role in the definite diagnosis of skeletal dysplasia. This article includes four pathognomonic findings as follows: 1) asymmetric appearance of long bones in chondrodysplasia punctata (XLD): Conradi-Hunermann type, 2) Scimiter-like patella calcification in Zellweger syndrome, 3) Wormian bone in osteogenesis imperfecta, 4) Bowdler spur in congenital hypophosphatasia. Among the radiological clues described above, Scimiter-like patella calcification in Zellweger syndrome and Bowdler spur in congenital hypophosphatasia were thought to be pathognomonic findings in the narrow sense. If a pathognomonic finding is found from a skeletal survey, the definite diagnosis might be obtained despite the rarity of the disease. We pediatric radiologists need to know these important clues to make a diagnosis of the specific type of skeletal dysplasia.
