Linked Life Data

10564879

Source:http://linkedlifedata.com/resource/pubmed/id/10564879

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-12-30
pubmed:abstractText
Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 1999 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
26
pubmed:volume
87
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
251-3
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Frontonasal dysostosis in two successive generations.
pubmed:affiliation
Regional Genetics Service, Belfast City Hospital Trust, Belfast, Northern Ireland. nc.nevin@bch.n-i.nhs.uk
pubmed:publicationType
Journal Article, Case Reports