| Blepharophimosis syndrome: association with colobomatous microphthalmos. | |
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MedLine Citation:
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PMID: 7546691 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome. RESULT: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy. Inheritance in this case was autosomal dominant from the maternal side. CONCLUSION: Colobomatous microphthalmos is an infrequent ocular abnormality in the blepharophimosis syndrome. Ophthalmologists should be aware of this association. |
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Authors:
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L R Lee; T J Sullivan |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Australian and New Zealand journal of ophthalmology Volume: 23 ISSN: 0814-9763 ISO Abbreviation: Aust N Z J Ophthalmol Publication Date: 1995 May |
Date Detail:
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Created Date: 1995-11-21 Completed Date: 1995-11-21 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 8505423 Medline TA: Aust N Z J Ophthalmol Country: AUSTRALIA |
Other Details:
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Languages: eng Pagination: 145-7 Citation Subset: IM |
Affiliation:
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Oculoplastic Clinic, Royal Children's Hospital, Brisbane, Queensland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Choroid / abnormalities* Coloboma / genetics*, pathology Eyelid Diseases / genetics*, pathology Humans Iris / abnormalities* Male Microphthalmos / genetics*, pathology Optic Disk / abnormalities* Prognosis Retina / abnormalities* Syndrome Vision, Ocular |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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