title: 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.affiliation: Division of Pediatric Neurology, University of Catania, Italy. parano@mbox.unict.it
authors.forename: P
authors.initials: P
authors.lastname: Pavone
authors.forename: E
authors.initials: E
authors.lastname: Parano
authors.forename: A
authors.initials: A
authors.lastname: Polizzi
authors.forename: R R
authors.initials: RR
authors.lastname: Trifiletti
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D003103:Coloboma / Q000473:pathology*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D008850:Microphthalmos / Q000473:pathology*