Linked Life Data

15551327

Source:http://linkedlifedata.com/resource/pubmed/id/15551327

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2004-12-28
pubmed:abstractText
Craniofacial dyssynostosis (CD) is characterized by premature fusion of the lambdoid and posterior part of the sagittal sutures, and short stature. Thus, the skull shape becomes dolichocephalic with protuberant forehead and either bulging or flat occiput. Facial changes are secondary to the skull defects, and some additional findings have also been described. We report on the first four known Spanish patients. They were unrelated and had Spanish ancestors. In the three previous reports about this syndrome, the authors hypothesized that the frequency of the gene causing CD must be rather high in the Spanish population, and relatively common in areas with Spanish ancestry. We have estimated the minimal birth prevalence of the syndrome in 0.51 per million livebirths. It has been previously suggested that the syndrome is inherited as an autosomal recessive trait, since there were two affected sisters among the nine published cases. Phenotypic variability is discussed in detail in this paper. We also underline several aspects for the anticipatory guidance of affected individuals, especially recommending a neurologic evaluation taking into account the radiologic findings in order to plan early interventions to avoid undesirable consequences of craniosynostosis. It is also recommended to perform additional studies (ophthalmologic, cardiologic, among others) to rule out the existence of associated anomalies, which are more frequent than previously considered.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
(c) 2004 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
132A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
41-8
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Craniofacial dyssynostosis: description of the first four Spanish cases and review.
pubmed:affiliation
ECEMC, CIAC, Instituto de Salud Carlos III, Madrid, Spain. eva.bermejo@isciii.es
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't