Linked Life Data

475637

Source:http://linkedlifedata.com/resource/pubmed/id/475637

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1979-10-26
pubmed:abstractText
The syndrome of blepharophimosis, ptosis, and epicanthus inversus is a rare but well-documented autosomal dominant disorder. Although autosomal dominant inheritance has been repeatedly confirmed, several observers have noted that transmission of the trait is predominantly through an affected male parent. To our knowledge, no published observations have accounted for this unusual differential transmission. Described here is a family with typical features of this disorder and in addition primary amenorrhea in the affected women. The primary amenorrhea, which has not been previously documented in this disorder, does account for differential transmission in this family and possibly in other families. Since affected individuals are treated by ophthalmologists, the possible occurrence of this extraocular manifestation should be recognized in the management of patients and their families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
97
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1664-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1979
pubmed:articleTitle
Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait.
pubmed:publicationType
Journal Article, Case Reports