Linked Life Data

10532171

Source:http://linkedlifedata.com/resource/pubmed/id/10532171

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-11-16
pubmed:abstractText
We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
241-5
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
A second family with Micro syndrome.
pubmed:affiliation
Unidad de Dismorfología, Infantil Universitario Virgen del Rocio, Sevilla, Spain. german@cica.es
pubmed:publicationType
Journal Article