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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1998-8-3
|
| pubmed:abstractText |
We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
28
|
| pubmed:volume |
77
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
16-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9557887-Blepharophimosis,
pubmed-meshheading:9557887-Child, Preschool,
pubmed-meshheading:9557887-Contracture,
pubmed-meshheading:9557887-Ear,
pubmed-meshheading:9557887-Elbow,
pubmed-meshheading:9557887-Face,
pubmed-meshheading:9557887-Female,
pubmed-meshheading:9557887-Fingers,
pubmed-meshheading:9557887-Genes, Recessive,
pubmed-meshheading:9557887-Hand Deformities, Congenital,
pubmed-meshheading:9557887-Humans,
pubmed-meshheading:9557887-Infant, Newborn,
pubmed-meshheading:9557887-Marfan Syndrome,
pubmed-meshheading:9557887-Syndrome
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face.
|
| pubmed:affiliation |
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ren.nic.in
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports
|