2001•American Journal of Medical GeneticsRequires access
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
Jeanne Amiel, Tania Attié‐Bitach, R�mi Marianowski, Valérie Cormier‐Daire, V�ronique Abadie, Damien Bonnet, Marie Gonzalès, Sophie Chemouny, Françis Brunelle, Arnold Münnich, Y Manac'h, Stanislas Lyonnet
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Abstract
The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.