Multiple metaphyseal dysplasia. case report.
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Abstract
Background: Multiple metaphyseal dysplasias are low-frequency diseases within the group of bone dysplasias, clinically similar to achondroplasia and rickets. Case report: the case of a five-year-old patient with this disease is presented, considering the clinical, radiological, endocrinological, and genetic evaluation carried out to reach his diagnosis. Conclusions: diagnostic suspicion in a patient with short stature and involvement of the metaphyses of the long bones in the images is critical to the correct identification of this pathology.
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