Oral and Clinical Manifestations of DiGeorge Syndrome with Primary Hypoparathyroidism: A Case Report

DiGeorge syndrome is an autosomal dominant inherited disorder caused by a deletion of chromosome 22q11.2. It is a multisystem condition, classically presenting with a triad of congenital heart defects, hypoplasia of the parathyroid glands and thymus, and congenital immunodeficiency. The present article reports a 24-year-old female with a DiGeorge syndrome with primary hypoparathyroidism, with emphasis on craniofacial and extraoral features, which included a hypoplastic mandible, flattened forehead, bulbous nose, and flattened nasal bridge. Radiographic findings revealed a thickened calvarium, frontal calcifications, and sutural diastasis. Early diagnosis and intervention, including genetic testing, can significantly improve patient outcomes.