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Six cases of CHARGE association Mariko Katayama 1 , Hironori Ozeki 1 , Akio Majima 1 1Dept of Ophthalmol, Nagoya City Univ Med Sch pp.1745-1749
Published Date 1990/10/15
DOI https://doi.org/10.11477/mf.1410908268
  • Abstract
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From a review of 35 patients with congenital uveal coloboma, we identified 6 cases satisfying the criteria of CHARGE association. Coloboma of the choroid was bilateral in 4 and unilateral in 2.

Coloboma of the iris was present in 1 and was unilateral. Persistent pupillary membrane was pres-ent in 2 cases and lagophthalmos due to unilateral facial palsy in 1.

The present 6 cases manifested, frequently, retarded growth, retarded development, anomaliesof the central nervous system and the ear with or without deafness. Choanal atresia was present in one case only.

Chromosomal analysis showed normal karyotype in all the cases. There were no signs of CHARGEamong 12 members of families of 4 affected cases. The findings suggest that CHARGE association is a sporadic disorder. These also suggest that this condition is not a rare occurrence.


Copyright © 1990, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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