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 spectr...
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| Veröffentlicht in: | Journal of AAPOS 2009-10, Vol.13 (5), p.512-514 |
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| creator | Cheung, Jason C., MD, FRCSC Thomson, Hugh, MD, FRCSC Buncic, J. Raymond, MD, FRCSC Héon, Elise, MD, FRCSC Levin, Alex V., MD, MHSc, FRCSC |
| description | 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. |
| doi_str_mv | 10.1016/j.jaapos.2009.05.005 |
| format | Article |
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This report describes the ophthalmologic findings and management of 2 affected children.</description><subject>Abnormalities, Multiple - pathology</subject><subject>Child</subject><subject>Craniofacial Abnormalities - pathology</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Lacrimal Apparatus - abnormalities</subject><subject>Male</subject><subject>Nose - abnormalities</subject><subject>Ophthalmology</subject><issn>1091-8531</issn><issn>1528-3933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1r3DAQhkVpaD7af1CCbz3ZmbHs9eoSaELzRWAPSc9ClkasXFvaSnZh8-trswuBXnqaObzvvDPPMPYVoUDA1VVXdErtQipKAFFAXQDUH9gZ1uU654Lzj3MPAvN1zfGUnafUAcBKIH5ipygabHhZnrFmo6dexWxQ3llKoxpd8CkLNhu3lD2FrfIp-Pymd29vKpos7b2JYaDP7MSqPtGXY71gP-9-vN4-5M-b-8fb78-5rnA15lpAqRulWuDzTqKyoMS6qbEUQNqiqQxwEhoaY9fWWGgrqKHVgnSLbWU4v2DfDnN3Mfye5gXl4JKmvleewpRkwysQJdaLsjoodQwpRbJyF92g4l4iyIWY7OSBmFyISajlTGy2XR4DpnYg8246IpoF1wcBzWf-cRRl0o68JuMi6VGa4P6X8O8A3TvvtOp_0Z5SF6boZ4QSZSolyJfla8vTQABgs0L-F58-kyg</recordid><startdate>20091001</startdate><enddate>20091001</enddate><creator>Cheung, Jason C., MD, FRCSC</creator><creator>Thomson, Hugh, MD, FRCSC</creator><creator>Buncic, J. 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| ispartof | Journal of AAPOS, 2009-10, Vol.13 (5), p.512-514 |
| issn | 1091-8531 1528-3933 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Abnormalities, Multiple - pathology Child Craniofacial Abnormalities - pathology Female Humans Infant, Newborn Lacrimal Apparatus - abnormalities Male Nose - abnormalities Ophthalmology |
| title | Ocular manifestations of the Johanson-Blizzard syndrome |
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