INTERSTITIAL DELETION OF 8Q21-]22 ASSOCIATED WITH MINOR ANOMALIES, CONGENITAL HEART DEFECT, AND DANDY-WALKER VARIANT

We describe an infant with a deletion of 8q21 --> 22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmen tal delay, Her facial characteristics included small, wide-spaced eyes , asymmetric bilateral epicanthal folds, a broad nasal bridge, a ''car p-shaped'' mouth, micrognathia, and prominent, apparently low-set ears , Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22, These four children all have similar facial appearance, Of the others reported, one had a congenital heart defect and one had craniosynostosis, This case, in addition to the pr eviously noted three cases, helps in delineating a recognizable syndro me. (C) 1995 Wiley-Liss, Inc.