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

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.

• Authors: P Pavone, E Parano, A Polizzi, R R Trifiletti
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 92 Issue 4 Pg. 278-80 (Jun 05 2000) ISSN: 0148-7299 [Print] United States
• PMID: 10842296 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Cerebellum (abnormalities)
• Child, Preschool
• Coloboma (pathology)
• Consanguinity
• Female
• Humans
• Male
• Microcephaly (pathology)
• Microphthalmos (pathology)