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Amiel, J., Attiee-Bitach, T., Marianowski, R., Cormier-Daire, V., Abadie, V., Bonnet, D., Gonzales, M., Chemouny, S., Brunelle, F., Munnich, A., Manach, Y. and Lyonnet, S. (2001) Temporal Bone Anomaly Proposed as a Major Criterion for Diagnosis of CHARGE Syndrome. American Journal of Medical Genetics, 99, 124-127.
http://dx.doi.org/10.1002/1096-8628(20010301)99:2<124::AID-AJMG1114>3.0.CO;2-9
has been cited by the following article:
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TITLE:
Charge Syndrome—A Case Report
AUTHORS:
A. Ravindran, A. Amirthagani, Prince Peter Dhas, S. Nagarajan, Senthil Kumar, Satheesh Kumar, Venkatesh
KEYWORDS:
Charge Syndrome, Choanal Atresia, Coloboma
JOURNAL NAME:
International Journal of Otolaryngology and Head & Neck Surgery,
Vol.4 No.2,
March
24,
2015
ABSTRACT: CHARGE syndrome is a rare, recently well recognized entity with non-random pattern of congenital anomalies. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All anomalies are not seen in every case and a varied spectrum of associations is seen in most of the cases. The exact incidence is not known. However, the reported prevalence is approximately 1:10,000 births. We report one such case.