Linked Life Data

10927940

Source:http://linkedlifedata.com/resource/pubmed/id/10927940

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-8-17
pubmed:abstractText
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome. CCA is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. We report here 28 patients with CCA, in whom a wide range of phenotypic expression is observed. These individuals usually have abnormally formed ears, limited extension of fingers and toes, arachnodactyly, clinodactyly, delay of developmental milestones and psychomotor retardation. Limited extensions of elbows, knees and hips are not constant features. With time, those affected individuals experience spontaneous improvement of their contractures but the kyphosis, unlike the joint contractures, tends to be progressive. No ocular problems were found in all patients, but congenital heart defects were detected in 32.2% of them. Atrial septal defect and ventricular septal defect are common components in our patients. Within the only one family with two multiply affected siblings there is little phenotypic variation between the patients.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1608-8115
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
59-62
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Congenital contractural arachnodactyly (Beals syndrome).
pubmed:affiliation
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
pubmed:publicationType
Journal Article, Comment