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Di georges synndromes

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1Di georges synndromes Empty Di georges synndromes Sun Oct 02, 2011 8:26 pm

amy

amy
Doctor
Doctor

Patients with 22q11 deletion will have significant congenital heart defects.
The range of defects is wide but tetralogy of Fallot and abnormalities in the main arteries are most frequently seen.
About 50% of patients will have defects of the palate.Mal Development of Parathyroid gland leads to Hypocalcemia.Mal development of Thymus leads to severe immunodeficiency with T cell depletion.

2Di georges synndromes Empty Re: Di georges synndromes Mon Oct 03, 2011 9:00 am

avijitprusty

avijitprusty
Doctor
Doctor

aka..........velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia

3Di georges synndromes Empty Re: Di georges synndromes Mon Oct 03, 2011 9:14 am

avijitprusty

avijitprusty
Doctor
Doctor

pnemonic==Cardiac Abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia...................................CATCH

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