Source:http://linkedlifedata.com/resource/pubmed/id/15103714
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2004-4-22
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pubmed:abstractText |
We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1552-4825
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 2003 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
127A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
35-9
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pubmed:dateRevised |
2008-5-21
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pubmed:meshHeading |
pubmed-meshheading:15103714-Adult,
pubmed-meshheading:15103714-Arthrogryposis,
pubmed-meshheading:15103714-Blepharophimosis,
pubmed-meshheading:15103714-Cornea,
pubmed-meshheading:15103714-Eye Abnormalities,
pubmed-meshheading:15103714-Female,
pubmed-meshheading:15103714-Fundus Oculi,
pubmed-meshheading:15103714-Hand Deformities, Congenital,
pubmed-meshheading:15103714-Humans,
pubmed-meshheading:15103714-Male,
pubmed-meshheading:15103714-Middle Aged,
pubmed-meshheading:15103714-Pedigree,
pubmed-meshheading:15103714-Retinal Vessels
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pubmed:year |
2004
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pubmed:articleTitle |
Distal arthrogryposis type IIB: unreported ophthalmic findings.
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pubmed:affiliation |
St. Pauls Eye Unit, Royal Liverpool University Hospital, Prescott Street, Liverpool L7 8XP, UK. jayashree2001@hotmail.com
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pubmed:publicationType |
Journal Article,
Case Reports
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