Pyle’s disease in a 4-year-old boy; a rare case report

Pyle’s disease (PD) is a rare inherited skeletal dysplasia. Approximately 35 cases have been reported worldwide. It is more frequently reported in adults. This skeletal dysplasia has distinct radiologic features, which are characterized by widening of the distal metaphysis of the femur and proximal tibia, cortical thinning, and osteoporosis. Regarding the rarity of PD and the importance of reporting its presentations, we aimed to report a 4-year-old boy focusing on its radiographic, laboratory, and genetic findings. In this case report, we present a 4-year-old boy from consanguineous parents brought to the pediatric orthopedic clinic for abnormal shape of lower extremities and difficulty walking when he was 3 years old. He was evaluated and finally diagnosed with PD using whole exome sequencing.