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
Case Reports
. 1991 Jun;66(6):710-2.
doi: 10.1136/adc.66.6.710.

Miller-Dieker syndrome with ring chromosome 17

N Sharief  1 , J Craze, D Summers, L Butler, C B Wood
Affiliations
Case Reports

Miller-Dieker syndrome with ring chromosome 17

N Sharief et al. Arch Dis Child. 1991 Jun.

Abstract

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.

PubMed Disclaimer

References

    1. Hum Genet. 1988 Sep;80(1):103-4 - PubMed
    1. Humangenetik. 1975 Jul 23;28(3):269-72 - PubMed
    1. Am J Hum Genet. 1988 Nov;43(5):587-96 - PubMed
    1. Am J Med Genet. 1985 Jun;21(2):225-9 - PubMed
    1. Hum Genet. 1984;67(2):193-200 - PubMed

Publication types