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rdf:type |
|
|
lifeskim:mentions |
|
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pubmed:issue |
3
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|
pubmed:dateCreated |
1986-1-9
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|
pubmed:abstractText |
A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
0009-9163
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
28
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|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
251-4
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|
pubmed:dateRevised |
2004-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:4064363-Blindness,
pubmed-meshheading:4064363-Consanguinity,
pubmed-meshheading:4064363-Female,
pubmed-meshheading:4064363-Foot Deformities, Congenital,
pubmed-meshheading:4064363-Genes, Recessive,
pubmed-meshheading:4064363-Growth Disorders,
pubmed-meshheading:4064363-Hand Deformities, Congenital,
pubmed-meshheading:4064363-Humans,
pubmed-meshheading:4064363-Infant,
pubmed-meshheading:4064363-Limb Deformities, Congenital,
pubmed-meshheading:4064363-Male,
pubmed-meshheading:4064363-Pedigree,
pubmed-meshheading:4064363-Psychomotor Disorders,
pubmed-meshheading:4064363-Syndrome
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|
pubmed:year |
1985
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|
pubmed:articleTitle |
Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
