Linked Life Data

3460725

Source:http://linkedlifedata.com/resource/pubmed/id/3460725

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1986-9-25
pubmed:abstractText
Popliteal pterygium syndrome is one of the autosomal dominant limb pterygium syndromes. It has incomplete penetrance and extreme phenotypic variability that leads to difficulty in diagnosis. A case is presented to emphasize the variable phenotype of this disorder. The absence of pterygia in the family members led to the misdiagnosis of van der Woude's syndrome. However, the presence of a pyramidal fold of skin over the nail of the hallux in family members suggested the diagnosis of popliteal pterygium syndrome. It is concluded that the presence of this distinctive nail abnormality in infants with cleft lip, cleft palate or both suggests the diagnosis of the popliteal pterygium syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0009-8701
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
233-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Intrafamilial variability of popliteal pterygium syndrome: a family description.
pubmed:publicationType
Journal Article, Case Reports