title: Ocular manifestations of the Johanson-Blizzard syndrome.
abstract: Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive. The literature was reviewed to define the reported spectrum of ocular manifestations, which are not well documented. We found that nasolacrimal system malformations are a common feature of Johanson-Blizzard, whereas intraocular malformations are rare. This report describes the ophthalmologic findings and management of 2 affected children.
authors.affiliation: Department of Ophthalmology and Vision Sciences, University of Toronto, Ontario, Canada.
authors.forename: Jason C
authors.initials: JC
authors.lastname: Cheung
authors.forename: Hugh
authors.initials: H
authors.lastname: Thomson
authors.forename: J Raymond
authors.initials: JR
authors.lastname: Buncic
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D009666:Nose / Q000002:abnormalities*