Pyle disease is a rare genetic bone disorder, which is characterized by numerous bone abnormalities, loss of hearing and loss of vision. Fractures are common in Pyle disease that affects the overall bone density. A recent study has identified that SFRP4 deficiency might be linked to bone abnormalities in this disorder. Pyle disease is a rare familial metaphyseal dysplasia disorder with few cases worldwide. However, the clinical features accompanied in Pyle disorder and osteoporosis are similar.
These skeletal disorders are descended as low bone mass, defective bone structure, and a high risk of fractures. Intervention is not required in most cases, but orthopedic treatment may be required for fractures. Although, bone fractures are common in Pyle disease, understanding its pathogenesis might offer insights into cortical bone homeostasis. Study design The genetic analysis was performed…
