DiGeorge syndrome involves thymic aplasia, parathyroid
hypoplasia, aortic arch and conotruncal anomalies, and
characteristic facies due to defects of 3rd and 4th branchial
arch development. Velocardiofacial syndrome was described as
a separate clinical entity, but does share many features in
common with DiGeorge syndrome. The features include mild
mental retardation, short stature, cleft palate or speech defect
from palatal dysfunction, prominent nose and congenital
cardiac defects including ventricular septal defect, right sided
aortic arch and tetralogy of Fallot.
Saturday, April 11, 2009
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