Linked Life Data

9211556

Source:http://linkedlifedata.com/resource/pubmed/id/9211556

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-8-14
pubmed:abstractText
Meckel syndrome is an autosomal recessive condition with a wide phenotypic variation. The most consistent features are cystic kidneys and intrahepatic bile duct anomalies, frequently accompanied by central nervous system (CNS) malformations and polydactyly. Approximately one sixth of all cases also show skeletal anomalies. We present two cases, siblings born to a consanguineous couple, in whom there was a striking curvature and shortening of the long bones in addition to cystic kidneys, CNS abnormalities, and polydactyly. Histological examination of the long bones in the second affected sibling showed mid-diaphysial ectopic cartilaginous growth plates differentiating the long bone changes from other skeletal dysplasias with similar radiological features.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1077-1042
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
625-30
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:articleTitle
Skeletal abnormalities in Meckel syndrome.
pubmed:affiliation
Department of Histopathology, St. Mary's Hospital for Women and Children, Manchester, England.
pubmed:publicationType
Journal Article, Case Reports