Linked Life Data

12116214

Source:http://linkedlifedata.com/resource/pubmed/id/12116214

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2002-7-12
pubmed:databankReference
pubmed:abstractText
We describe six Thai children with the Kabuki syndrome. Monozygotic twin boys discordant for the syndrome were encountered in a family. The affected twin had all five cardinal features of the syndrome, whereas the unaffected twin had none of them. The presence of monozygotic twins discordant for the syndrome argues against a single gene origin of the disorder, but by no means excludes it. In another family, a mother had a facial appearance similar to her affected son. Lower lip pits with or without symmetrical lower lip nodules were present in three of the six children, and pilonidal sinus was seen in five children. These clinical manifestations were much more common than previously described. Other inconsistent findings included early eruption of the lower central incisors, a skin defect of the head, and transient hyperthyrotropinemia in infancy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
110
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
384-90
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
pubmed:affiliation
Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. vorasuk.s@chula.ac.th
pubmed:publicationType
Journal Article