Linked Life Data

21258811

Source:http://linkedlifedata.com/resource/pubmed/id/21258811

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2011-5-6
pubmed:abstractText
Brittle cornea syndrome (BCS) is a rare autosomal recessive disease that affects the connective tissue. The syndrome is caused by genetic changes in the 4.7-Mb interval between the D16S3423 and D16S3425 markers on the 16q24 chromosome and mutations in the Zinc-Finger 469 gene (ZNF469). BCS is characterized by thin and fragile cornea that tends to perforate spontaneously or as a result of minor trauma to the eye. In addition, the patient usually suffers from hearing loss, mental retardation, hyperextensibility of skin and joints, as well as varying degrees of scoliosis. This phenotypical expression presents an interesting challenge to anesthetic care. We briefly present the perioperative management of a patient with BCS who underwent three cesarean sections.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1432-0711
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
283 Suppl 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
49-52
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Peripartum anesthetic management of a patient with brittle cornea syndrome.
pubmed:affiliation
Department of Anesthesiology, Perioperative Medicine and Pain Treatment, Shaare Zedek Medical Centre, Hebrew University, POB 3235, 91031, Jerusalem, Israel. aioscovich@gmail.com
pubmed:publicationType
Journal Article, Case Reports