Ocular manifestations of the Johanson-Blizzard syndrome.
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.
Cheung
Jason C
JC
Department of Ophthalmology and Vision Sciences, University of Toronto, Ontario, Canada.
Thomson
Hugh
H
Buncic
J Raymond
JR
Héon
Elise
E
Levin
Alex V
AV
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*