This article mainly reported the Pyle disease presenting in two adult sisters. Pyle disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. Now the study of Pyle disease is very rare, the writer reported the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. The clinicoradiological dissociation, along with the characteristic imaging findings, was consistent with the diagnosis of Pyle's disease. Intervention is not required in most cases, but orthopedic treatment may be required for genu valgum or fractures. Therefore, these cases emphasize the pivotal role conventional radiography plays in the correct diagnosis of this rare entity, allowing for appropriate genetic counseling.
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