Linked Life Data

18978651

Source:http://linkedlifedata.com/resource/pubmed/id/18978651

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2008-11-3
pubmed:abstractText
Loeys-Dietz syndrome (LDS) is a recently recognized arterial aneurysm syndrome because of heterozygous mutations in TGFBR1 or TGFBR2. Two subtypes have been delineated: LDS I, with features including craniosynostosis, hypertelorism and cleft palate and/or bifid uvula, and LDS II, wherein the face is reportedly normal. The most salient feature in LDS, whether type I or II, is of a generalized arteriopathy. The craniofacial features of LDS I are recognizable. No particular craniofacial phenotype has been reported in LDS II. We describe the evolution of facial features with age in seven LDS II patients harbouring a TGFBR1 or TGFBR2 mutation. Most patients had dolichocephaly, a tall broad forehead, frontal bossing, a high anterior hairline, hypoplastic supraorbital margins, a 'jowly' appearance (particularly in the first 3 years of life), translucent and redundant facial skin (often most pronounced in the periorbital region), prominent upper central incisors in late childhood/adulthood, and an open-mouthed myopathic face. The adult faces appeared prematurely aged. Although not exclusive to LDS II alone, recognition of these facial features may assist in the differentiation of LDS II from closely related conditions, and facilitate diagnosis and appropriate investigations and management.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
243-8
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.
pubmed:affiliation
Department of Clinical Genetics Marfan Research Group, The Children's Hospital at Westmead Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia. lesleya@chw.edu.au
pubmed:publicationType
Journal Article, Case Reports