Two patients with Asymmetric Crying Facies, normal cardiovascular systems and deletion of chromosome 22q11

Abstract

We report two unrelated patients with Asymmetric Crying Facies (ACF) and 22q11 deletion. In the first case ACF was the presenting feature. Fluorescent In Situ Hybridization (FISH) revealed 22q11 deletion and subsequent echocardiography demonstrated a normal cardiovascular system. The second presented with hypoparathyroidism, shown on FISH to be secondary to 22q11 deletion. Echocardiography was normal and ACF was found incidentally. Deletion of 22q11 has been reported with ACF occurring as part of the Cardiofacial syndrome (CFS) [Giannotti A, Mingarelli R, (1994): Am J Med Genet 53: 303-304] but this is the first report of ACF with 22q11 deletion in the absence of cardiac abnormalities. A review of the literature pertaining to ACF is presented.