D

 

DiGeorge anomaliler (sendromlar) kümesi

Neden: 22q11.2 deletion içeren sendromlar, teratojenler, diabetes mellitus

Gebeliğin 4-7. haftasında beliren III-IV faringeal cep kompleksi etkilenmesine bağlı konjenital anomaliler

Gelişme geriliği

Hipertelorizm

Görme sorunları

Kulak ve burun anomalileri

Mikrognati

Yarık damak

Uvula bifida

Paratiroid hipoplazisi/aplazisi

Hipokalsemi

Timus hipoplazisi/aplazisi

Bağışıklık sistemi sorunları

İnfeksiyon riski

Kalpte ventriküler septum defekti

Fallot tetralojisi

Skolyoz

Psikiyatrik sorunlar

 

  • Thomas RA, Landing BH, Wells TR. Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge anomaly. American Journal of Medical Genetics, Suppl 3:43-66, 1987

  • Bassett AS, Chow EWC, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. American Journal of Medical Genetics A, 138A: 307-313, 2005

  • Cheung ENM, George SR, Andrade DM, et al. Natal hypocalcemia, Natal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genetics in Medicine, 16: 40-44, 2014

  • Daniel NJ, Wadman MC, Branecki CE. Milk-alkali-induced pancreatitis in a chronically hypocalcemic patient with DiGeorge syndrome. Journal of Emergency Medicine, 48(3):e63-66, 2015