Linked Life Data

2221817

Source:http://linkedlifedata.com/resource/pubmed/id/2221817

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1990-11-15
pubmed:abstractText
We describe a Chinese family with three siblings, all females, presenting with the Wolfram Syndrome. All three cases had almost similar clinical presentation of insulin-dependent diabetes mellitus, with rapid development of severe renal and retinal complications. Two siblings died at age thirty and thirty-one years of end-stage renal failure. All three cases had visual symptoms since early childhood progressing rapidly to loss of vision. Two of the three siblings had severe diabetic retinopathy requiring laser photocoagulation. These presentations are in contrast to most reported cases of the Wolfram syndrome where advanced diabetic eye complication is a rare feature. We also present several features present in one of the siblings, viz., microcephaly, microstomia, clinodactylyl, brachydactylyl, empty sella syndrome and severe hypoplasia of the right internal carotid vessels associated with mild narrowing of the left internal carotid artery which have not been previously described.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0304-4602
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
548-55
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure.
pubmed:affiliation
Department of Medicine, National University Hospital, Singapore.
pubmed:publicationType
Journal Article, Case Reports