Linked Life Data

7802008

Source:http://linkedlifedata.com/resource/pubmed/id/7802008

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-1-25
pubmed:abstractText
In 1975, Neuhaüser (Z Kinderheilk 120:1-8) reported on a recessively inherited entity comprising mental retardation, megalocornea, and seizures. The megalocornea-mental retardation (MMR) syndrome (MIM 249310) is a rare entity. There have been 19 previously published cases and the clinical differences observed between reported patients have raised questions regarding the nosology of the syndrome and the issue of heterogeneity versus variability. We report on a new case: a 2 6/12-year-old boy, first child of nonconsanguineous healthy parents with megalocornea (corneal diameter > or = 13 mm), delayed psychomotor development and hypotonia, plus minor facial anomalies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
196-7
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Megalocornea-mental retardation syndrome: an additional case.
pubmed:affiliation
Unidad de Genética Médica, Hospital Universitario, Virgen del Rocío, Sevilla, Spain.
pubmed:publicationType
Journal Article, Review, Case Reports