Journal
JOURNAL OF AAPOS
Volume 13, Issue 5, Pages 512-514Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaapos.2009.05.005
Keywords
-
Categories
Funding
- Brandan's Eye Research Fund
- Foerderer Fund
Ask authors/readers for more resources
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
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available