Linked Life Data

20856019

Source:http://linkedlifedata.com/resource/pubmed/id/20856019

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-9-21
pubmed:abstractText
Caudal appendage is a rare but reported finding seen in association with craniosynostosis. We report a newborn with caudal appendage secondary to sacrococcygeal eversion, a cloverleaf skull, choanal atresia, and a heterozygous mutation of Y375C in the juxtamembrane domain (exon 11) of fibroblast growth factor receptor 2 (FGFR2). Further support of this association are 22 other cases of craniosynostosis with caudal appendage or sacrococcygeal eversion in the literature. Of these, 19 had detectable mutations in FGFR2; 5, the same mutation; and 5, a similar substitution of cysteine for serine. We hypothesize that the association of craniosynostosis and caudal appendage is due to abnormal expression of FGFR2 in the tail bud of a developing embryo based on animal models. Our case and those reported in the literature suggest that in patients with caudal appendage and craniosynostosis, FGRF2 analysis should include regions outside the commonly tested exons 8 and 10, particularly the juxtamembrane domain.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1536-3732
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1346-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
pubmed:affiliation
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305, USA. dlsureka@stanford.edu
pubmed:publicationType
Journal Article, Case Reports