Linked Life Data

11152149

Source:http://linkedlifedata.com/resource/pubmed/id/11152149

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-1-9
pubmed:abstractText
Hydrolethalus syndrome is an autosomal recessive disorder characterized by hydrocephalus, micrognathia, limb anomalies and several other abnormalities, mostly in the midline structures. The syndrome was first described in Finland, where the incidence is approximately 1 in 20000. All of the Finnish patients were stillborn or died during the first day of life. Only three non-Finnish cases have survived beyond the neonatal period. Here, we report the first Oriental girl with a 'milder' form of hydrolethalus syndrome. The patient died at age 44 days making her the fourth reported case surviving beyond the neonatal period. The case supports the concept of a 'milder' form of the syndrome. Whether this spectrum is due to allelism or locus heterogeneity awaits molecular analysis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
51-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
An Asian girl with a 'milder' form of the Hydrolethalus syndrome.
pubmed:affiliation
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. fmedvst@md2.md.chula.ac.th
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't