| Congenital corneal opacification in De Barsy syndrome. | |
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MedLine Citation:
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PMID: 11176995 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring. Special stains showed no deposition of abnormal material in the corneas. Electron microscopy demonstrated absence of Bowman layer differentiation with a paucity of collagen fibers, as well as extensive small elastic fibers in the anterior stroma. The diagnosis of De Barsy syndrome was made, a rare progeroid syndrome associated with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities. De Barsy syndrome should be included in the differential diagnosis of congenital corneal opacification; its distinctive clinical features enable the clinician to easily differentiate it from other causes of congenitally cloudy corneas. |
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Authors:
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A J Aldave; R C Eagle; B W Streeten; J Qi; I M Raber |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Archives of ophthalmology Volume: 119 ISSN: 0003-9950 ISO Abbreviation: Arch. Ophthalmol. Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2001-02-22 Completed Date: 2001-03-08 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7706534 Medline TA: Arch Ophthalmol Country: United States |
Other Details:
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Languages: eng Pagination: 285-8 Citation Subset: AIM; IM |
Affiliation:
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Cornea Service, Wills Eye Hospital, 900 Walnut St, Philadelphia, PA 19107, USA. Raber101@aol.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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diagnosis Cornea / pathology, ultrastructure Corneal Opacity / congenital*, pathology, surgery Cutis Laxa / complications*, diagnosis Diagnosis, Differential Eye Diseases, Hereditary / complications*, pathology, surgery Humans Infant, Newborn Keratoplasty, Penetrating Male Progeria / complications*, diagnosis Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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EY01602/EY/NEI NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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