Linked Life Data

17955515

Source:http://linkedlifedata.com/resource/pubmed/id/17955515

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
2007-12-6
pubmed:abstractText
Frontonasal dysplasia [FND; OMIM 136760] results from abnormal morphogenesis of the frontonasal process with disruption of the formation of the facial midline. Craniofacial anomalies in FND include anterior cranium bifidum, ocular hypertelorism, orofacial clefting and notching or clefting of the alae nasi. The majority of FND cases are sporadic and discordance has been demonstrated in monozygotic twin pairs, arguing against a strong inherited component in pathogenesis. However, pedigrees with Mendelian inheritance and non-recurrent chromosome aberrations in FND patients demonstrate that gene mutations or cytogenetic imbalance can also be important in the etiology of this phenotype. We classified 101 reported cases of FND from the medical literature and three new cases into seven separate FND phenotypic subtypes in addition to isolated FND. Our aim was to evaluate FND patients for distinct phenotypes within the FND spectrum and to determine the evidence for a genetic etiology in each of the different subtypes. Our analysis showed significant differences in the severity of the accompanying malformations and the rates of learning disabilities in the FND subtypes, although the small patient numbers and method of patient ascertainment may have influenced the data. The results suggest that cases with FND should be evaluated for additional anomalies, as these may help to determine prognosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
(c) 2007 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
143A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3069-78
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Subtypes of frontonasal dysplasia are useful in determining clinical prognosis.
pubmed:affiliation
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA.
pubmed:publicationType
Journal Article, Case Reports