Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1988 Mar;25(3):147-56.
doi: 10.1136/jmg.25.3.147.

A reappraisal of the CHARGE association

C A Oley  1 , M Baraitser, D B Grant
Affiliations

A reappraisal of the CHARGE association

C A Oley et al. J Med Genet. 1988 Mar.

Abstract

We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypogonadism. A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nostrils) was observed in many of our cases. The aetiology remains unknown. All our cases are sporadic.

PubMed Disclaimer

References

    1. Br Med J. 1973 Feb 3;1(5848):269-72 - PubMed
    1. J Med Genet. 1975 Sep;12(3):289-93 - PubMed
    1. J Pediatr Ophthalmol Strabismus. 1979 Mar-Apr;16(2):122-8 - PubMed
    1. JAMA. 1984 Aug 17;252(7):903-12 - PubMed
    1. Am J Med Genet. 1982 Oct;13(2):131-7 - PubMed