Linked Life Data

17786112

Source:http://linkedlifedata.com/resource/pubmed/id/17786112

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2007-9-5
pubmed:abstractText
Three siblings are reported with a syndrome of intractable diarrhea of infancy (owing to tufting enteropathy) and choanal atresia/stenosis. Additional components of this condition are a mild shortness of stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, episodic cytopenia, and abnormal hair texture. Intelligence is normal, and there is no immunodeficiency distinguishing this syndrome from that reported by Girault et al. (1994). Additional features that might occur in this syndrome include bifid uvula, preauricular pits, and 2/3 toe syndactyly. We compare this syndrome with previously reported intractable diarrhea syndromes and speculate on the developmental mechanisms that could account for many of the features demonstrated by this sibship.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
211-21
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.
pubmed:affiliation
Rady Children's Hospital San Diego, California 92123, USA. lbird@rchsd.org
pubmed:publicationType
Journal Article