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. (C) 2000 Wiley-Liss, Inc.
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?
Parano Enrico;
2000
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. (C) 2000 Wiley-Liss, Inc.File in questo prodotto:
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