Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome - PubMed (original) (raw)
Case Reports
. 2001 Mar 1;99(2):124-7.
doi: 10.1002/1096-8628(20010301)99:2<124::aid-ajmg1114>3.0.co;2-9.
T Attieé-Bitach, R Marianowski, V Cormier-Daire, V Abadie, D Bonnet, M Gonzales, S Chemouny, F Brunelle, A Munnich, Y Manach, S Lyonnet
Affiliations
- PMID: 11241470
- DOI: 10.1002/1096-8628(20010301)99:2<124::aid-ajmg1114>3.0.co;2-9
Case Reports
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
J Amiel et al. Am J Med Genet. 2001.
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.
Copyright 2001 Wiley-Liss. Inc.
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