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Exploring the clinical spectrum of DiGeorge syndrome
Cristina Tomacinschii1,2*, Victoria Sacara2, Alexandr Dorif2, Marodi Laszlo3,4, Svetlana Sciuca1
https://doi.org/10.52645/MJHS.2026.1.05
DiGeorge syndrome, known also as 22q11.2 deletion syndrome, is a rare multisystemic disorder characterized by a wide range of clinical features and may include thymic aplasia and subsequent immunodeficiency, conotruncal cardiac anomalies, typical facial features, palatal abnormalities, and hypocalcemia due to hypoparathyroidism.