Linked Life Data

9475596

Source:http://linkedlifedata.com/resource/pubmed/id/9475596

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-3-24
pubmed:abstractText
We present a patient with distinctive clinical manifestations resembling those first described by Pitt and Hopkins in 1978 [Aust Pediatr J 14:182-184] as a separate entity. Cardinal findings in this syndrome are mental retardation, "coarse" face, and an abnormal breathing pattern. The symptoms in this patient are different from those in the Joubert syndrome, Rett syndrome, Rett-like variants, and of a case reported by Leifer et al. [1991: Dysmorph Clin Genet 5:42-47]. The manifestations in our patient and in the case described by Singh [1993: J Paediatric Child Health 29:156-157] seem to confirm the delineation of this syndrome the cause of which remains unknown.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
23
pubmed:volume
75
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
273-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
pubmed:affiliation
Department of Child and Adolescent Psychiatry, Academic Medical Center, University of Amsterdam, The Netherlands.
pubmed:publicationType
Journal Article, Comparative Study, Review, Case Reports