Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome

The acronym CHARGE defines a non-random clustering of congenital malformati ons of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of t he six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypo plasia on temporal bone CTscan. We report on semicircular canal agenesis/hy poplasia in three patients with three to four features of the CHARGE syndro me and neither coloboma nor choanal atresia and we propose to include tempo ral bone malformations as a major criteria for diagnosis of CHARGE syndrome , (C) 2001 Wiley-Liss, Inc.