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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
1993-9-30
|
| pubmed:abstractText |
We report a Mexican family with two members (mother and daughter) affected with blepharophimosis hereditary syndrome: ptosis of the eyelids, blepharospasm and epicanthus inversus. The daughter presented: hyperopia, astigmatism, hemispheric asymmetry, superficial mental deficiency and ovarian cyst. The mother with ophthalmological affectation, present too border line intellectual quotient. Clinical findings in this family illustrate autosomal dominant trait; differential diagnosis should be taken into account for genetic counselling.
|
| pubmed:language |
spa
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0539-6115
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
50
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
586-9
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8357520-Blepharophimosis,
pubmed-meshheading:8357520-Child,
pubmed-meshheading:8357520-Female,
pubmed-meshheading:8357520-Humans,
pubmed-meshheading:8357520-Intellectual Disability,
pubmed-meshheading:8357520-Ovarian Cysts,
pubmed-meshheading:8357520-Pedigree,
pubmed-meshheading:8357520-Phenotype,
pubmed-meshheading:8357520-Syndrome,
pubmed-meshheading:8357520-Vision Disorders
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
[Hereditary blepharophimosis with visual alterations].
|
| pubmed:affiliation |
Servicio de Pediatría, Genética y Oftalmología, Instituto Nacional de Salud Mental, México, D.F.
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|