| Imaging findings of congenital glaucoma in Opitz syndrome. | |
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MedLine Citation:
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PMID: 18310233 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Opitz syndrome is a rare autosomal recessive disorder of cholesterol metabolism associated with mental retardation and multiple congenital malformations. It is also uncommonly associated with congenital glaucoma. We describe the orbital findings on CT in this rare case of a patient with Opitz syndrome who presented with congenital glaucoma, with a review of the literature. The CT findings of congenital glaucoma, which have not been described before in the literature, are also discussed. It is important for the radiologist to be aware of this rare association. It is also important to be aware of the findings of congenital glaucoma on CT because patients with Opitz syndrome and other syndromes associated with learning difficulties may not present with typical clinical features of glaucoma. A high index of suspicion will lead to a correct diagnosis and earlier intervention. |
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Authors:
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A K Choudhary; B Jha |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-02-29 |
Journal Detail:
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Title: AJNR. American journal of neuroradiology Volume: 29 ISSN: 1936-959X ISO Abbreviation: AJNR Am J Neuroradiol Publication Date: 2008 May |
Date Detail:
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Created Date: 2008-05-14 Completed Date: 2008-06-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8003708 Medline TA: AJNR Am J Neuroradiol Country: United States |
Other Details:
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Languages: eng Pagination: 1003-5 Citation Subset: IM |
Affiliation:
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Department of Radiology, Hershey Medical Center, Hershey, PA 17036, USA. achoudhary@hmc.psu.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Female Glaucoma / congenital*, radiography* Humans Smith-Lemli-Opitz Syndrome / radiography* Tomography, X-Ray Computed* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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