Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical
course of the disease – case report and literature review
Aleksandra Janina Wylazłowska,
Małgorzata Grabarczyk,
Marta Gorczyca
et al.
Abstract:DiGeorge syndrome is associated with microdeletion of chromosome 22q11. Hypoplasia of the thymus, hypoparathyroidism, facial malformations and cardiac defects as well as learning difficulties are typical features of the disease. On the other hand hypocalcemia related to hypoparathyroidism is not present in every patient and can develop later and be persistent or transient and is often masked by the other signs or symptoms. We described a 13-year-old boy diagnosed with DiGeorge syndrome, after a few years of no… Show more
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