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Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?

Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome? We report on a 3.5‐year‐old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. Neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the “micro syndrome,” together with other similar syndromes. Our case highlights the heterogeneity of the “microphthalmia plus brain malformations” group of patients. Am. J. Med. Genet. 92:278–280, 2000. © 2000 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?

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Publisher
Wiley
Copyright
Copyright © 2000 Wiley‐Liss, Inc.
ISSN
1552-4868
eISSN
1552-4833
DOI
10.1002/(SICI)1096-8628(20000605)92:4<278::AID-AJMG11>3.3.CO;2-2
Publisher site
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Abstract

We report on a 3.5‐year‐old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. Neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the “micro syndrome,” together with other similar syndromes. Our case highlights the heterogeneity of the “microphthalmia plus brain malformations” group of patients. Am. J. Med. Genet. 92:278–280, 2000. © 2000 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics – Wiley

Published: Jun 5, 2000

Keywords: microcephaly; consanguinity; congenital cerebellum hypoplasia; microphthalmia; MRI

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