Article
DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui - 1 Jan 2000
Wang J L, Chen S J, Chung M Y, Niu D M, Lin C Y, Hwang B T, Lu J H
Abstract excerpt
DiGeorge syndrome (DGS) is a congenital anomaly involving developmental defects of the third and fourth pharyngeal pouches. Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies are characteristics features. We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and...
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