Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1. Radiologic images of patient. Metaphyseal fraying and widening of metacarpal and metatarsal bones, distal ulnar metaphysis, distal femur, and proximal tibia (yellow arrow). (A, B) Short, broad, irregular metacarpal and metatarsal bones. (C) Genu valgum was noted in both knees. (D) deformed configurations in distal radius and ulna (red arrowhead). (E) Hip dysplasia including poorly developed acetabulum (dashed arrow) and deformity of both femoral head (black arrowhead). (F) Malformation of thoracolumbar vertebral body. (G) Brain computed tomography showed diffuse cortical bone thickening, abnormal J-shaped sella turcica (*), and narrowing of craniocervical junction (blue arrow).
Journal of Genetic Medicine 2022;19:32-7
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