Can Imaging Aid Diagnosis of Inner Ear Malformation and Predict Digeorge Syndrome?

FISH: Fluorescence In Situ Hybridization; IVC: Interventricular Communication; IAC: Interauricular Communication; PFO: Patent Foramen Oval; CHL: Conductive Hearing Loss; SNHL: Sensorineural Hearing Loss; CT: Computed Tomography; SCC: Semicircular canal; LSCC: Lateral Semicircular Canal; PSCC: Posterior Semicircular Canal

digeorge syndrome
digeorge syndrome

DiGeorge or 22q11 deletion syndrome was first described in 1965. It is a genetic syndrome characterized by deletion of band 11 on the long arm of chromosome 22. The term CATCH 22 has been employed (Cardiac anomaly, abnormal face, thymus hypoplasia, cleft palate, hypocalcemia, chromosome 22) but fails to describe all the anomalies.

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