التفاصيل البيبلوغرافية
| العنوان: |
The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature. |
| المؤلفون: |
Miller, Garfield L., Somani, Sohel, Nowaczyk, Malgorzata J. M., Feigenbaum, Annette, Davidson, Ronald G., Costa, Teresa, Levin, Alex V. |
| المصدر: |
Ophthalmic Genetics; Mar2006, Vol. 27 Issue 1, p1-7, 7p, 2 Charts |
| مصطلحات موضوعية: |
EYE diseases, VISION disorders, GENETIC research |
| مصطلحات جغرافية: |
TORONTO (Ont.), ONTARIO |
| مستخلص: |
Purpose: We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations. Methods: Chart review of Ocular Genetics Program patients at The Hospital for Sick Children, Toronto, Canada. Results: Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found. Conclusions: We report typical findings and novel ocular presentations. Visual prognosis is generally good. Retinal dysplasia and coloboma seem associated with del11q23. ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
