Linked Life Data

8725795

Source:http://linkedlifedata.com/resource/pubmed/id/8725795

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1996-11-7
pubmed:abstractText
Pseudoachondroplasia (PSACH) is a well-characterized autosomal dominant dwarfing condition. A great deal of information is available about orthopedic complications, but little is known about extraskeletal complications in adulthood. This study was undertaken to delineate the natural history of PSACH at all ages. Seventy-nine individuals responded to an extensive questionnaire that included information about deformities, operations, general health, chronic diseases, and reproduction. PSACH individuals were ascertained through the University of Texas Medical Genetics patient population, a genetic linkage study, and the social organization, Little People of America. The results show that PSACH individuals with a family history do not have a distinct or more severe phenotype than new mutation cases. There were not differences in the number of orthopedic complications, operations, or number of offspring between these two groups. Less than half of affected adults reported having total hip replacement surgery, which was less common than previously reported. Extraskeletal complications were generally uncommon. There were four cases of cancers in 41 individuals queried. Premature osteoarthritis was the major health problem for PSACH individuals. PSACH individuals are generally healthy but have problems associated with debilitating osteoarthritis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
17
pubmed:volume
63
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
406-10
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Natural history study of pseudoachondroplasia.
pubmed:affiliation
University of Texas Health Science Center, Houston Medical School, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't