Linked Life Data

9934988

Source:http://linkedlifedata.com/resource/pubmed/id/9934988

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-3-29
pubmed:abstractText
We report on two sisters from healthy families with a syndrome of severe developmental delay, ataxia, impaired social interaction, a seizure disorder with early onset but without epileptiform electroencephalogram changes, and a striking light-fixating behavior which was associated with retinal cone dystrophy. Additionally, they have minor anomalies including peripheral iris hypoplasia, bluish sclerae, mild anteversion of nostrils, micrognathia, ear anomalies, broad halluces and thumbs, hypoplastic toenails, short perineal body, "Mongolian spots," mild hirsutism, hypoplastic ridges in the hypothenar area, and distal axial triradii. Growth and general health are normal in both, but one also had tetralogy of Fallot and vesicoureteral reflux. Because this condition appears to be previously undescribed we postulate a new autosomal recessive disorder with light-fixating behavior and retinal cone dystrophy as leading symptom.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
194-8
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.
pubmed:affiliation
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
pubmed:publicationType
Journal Article, Case Reports