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

We report on a 3.5-year-old girl with microcephaly, microphthalmia, colobom a of the iris, mild developmental delay, and other minor anomalies. Neuroim aging showed marked cerebellar and vermian hypoplasia. This condition has n ot been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the h eterogeneity of the "microphthalmia plus brain malformations" group of pati ents. Am. J. Med. Genet. 92:278-280, 2000. (C) 2000 Wiley-Liss, Inc.