کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9342600 | 1261889 | 2005 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Ophthalmologic Findings in the Cornelia de Lange Syndrome
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
چشم پزشکی
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چکیده انگلیسی
Background: Cornelia de Lange Syndrome (CdLS) is a disorder caused in many patients by a mutation in the NIPBL gene with a dominant pattern of inheritance characterized by mental retardation, prenatal and postnatal growth retardation, upper-limb abnormalities, and characteristic facies. Few data exist concerning the ophthalmic findings in this syndrome. Methods: One hundred twenty individuals with CdLS underwent ophthalmic examination to ascertain the relative frequencies of oculofacial and ophthalmic abnormalities. Results: We confirmed the frequent findings of synophrys (99%), long lashes (99%), hypertrichosis of the brows (96%), ptosis (44%), epiphora (22%), nasolacrimal duct obstruction (16%), blepharitis (25%), and myopia (58%). In addition, we found peripapillary pigment (83%), and microcornea (21%), which have infrequently been mentioned in the literature. Conclusion: Patients with CdLS can have mutiple eye problems. Many of these problems can be readily treated, including myopia, blepharitis, nasolacrimal duct obstruction, and ptosis. Early examination is recommended for all children known or suspected to have CdLS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of American Association for Pediatric Ophthalmology and Strabismus - Volume 9, Issue 5, October 2005, Pages 407-415
Journal: Journal of American Association for Pediatric Ophthalmology and Strabismus - Volume 9, Issue 5, October 2005, Pages 407-415
نویسندگان
Tamara MD, John (FRCSC), Enza BA, Mohamed MSc, Laird G. MD, Alex V. (FRCSC),