Zeynep Kamil Med J. 2015; 46(4): 118-120 | DOI: 10.16948/zktb.42746

Late Hypocalcemia with Di George Syndrome in a Rare Case of Neonatal Period

Handan Hakyemez Toptan¹, Ayþen Akbaþ¹, Tülin Gökmen Yýldýrým¹, Taner Yavuz², Fahri Ovalý¹, Güner Karatekin^1
1Zeynep Kamil Gynecology, Child Health and Diseases Eðt. and Res. Hospital Neonatology Clinic, Istanbul
²Zeynep Kamil Gynecology, Child Health and Diseases Education and Res. Hospital. Pediatric Cardiology Clinic, Istanbul

Classical triad of DiGeorge Syndrome (DGS), where more than %90 of patients are detected by 22q11 deletion, is formed by congenital heart diseases, large vascular anomalies, palatal incapacity, and hypocalcemia. Hypoplasia of timus, speaking and nutrition problems, and mental retardation are other frequently observed signs. Apart from these, several different phenotypic characteristics are identified

Keywords: DiGeorge syndrome, multicystic kidney, 22q11 deletion syndrome, hypocalcemia

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