Aim: The aim of this study is to report the case of the orthopedic and orthodontic treatment in a young patient affected by DiGeorge Syndrome and Familial Mediterranean Fever. Case report: An 8-year-old boy with dysmorphic facial features was brought to our observation. Anamnesis revealed signs of fetal respiratory distress, previous surgically removed subdural hematoma, recurrent episodes of fever, arthralgia, polyserositis, hepatosplenomegaly, chronic interstitial nephritis with hypertension, microprotenuria, normocytic anemia, hyperparathyroidism and secondary amyloidosis. DNA sequencing identified microdeletions on 22q11.2 and MEFV mutation. The patient was in treatment with immunosuppressive agents, colchicine, antihypertensive therapy, calcitriol, erythropoietin, and low-protein diet. An intraoral and extraoral examination, as well as radiographic and model analysis, were performed in order to define an accurate diagnosis and a proper rehabilitation planning. An orthopedic-orthodontic treatment was performed and satisfactory final results obtained. Conclusions: Literature does not describe cases of patients having DiGeorge syndrome associated to Familial Mediterranean Fever undergoing orthodontic and orthopedic treatment. In this patient an early started treatment with a timely management of orthopedic and orthodontic forces allowed to reach positive and stable results.
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