Linked Life Data

12677801

Source:http://linkedlifedata.com/resource/pubmed/id/12677801

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-4-7
pubmed:abstractText
This work presents a family, a mother and her 3 daughters, aged: 10 months, 4 years, 5 years with Rieger's anomaly. For children, this anomaly is associated with glaucoma and buphtalmy, this last element is the one that made the family ask for medical assistance and come to the hospital. The study of the disease was done on five generations in the same family, on the mother's line. This revealed that in the mother's family the grand grandmother and her two sisters were blind at an early age (30-40 years old). The presence of the anomaly in many generations proves the genetic transmission of the disease. We have to mention that in the last generation, the most serious appearance was registered at the patient with the earliest age (10 months).
pubmed:language
rum
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1220-0875
pubmed:author
pubmed:issnType
Print
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
50-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
[Iris-corneal dysgenesis].
pubmed:affiliation
Lucrare efectuat? în Clinica de Oftalmologie Craiova.
pubmed:publicationType
Journal Article, English Abstract, Case Reports