Linked Life Data

18369643

Source:http://linkedlifedata.com/resource/pubmed/id/18369643

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-5-6
pubmed:abstractText
INTRODUCTION: Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. DISCUSSION: A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0256-7040
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
773-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.
pubmed:affiliation
Department of Pediatrics, Fondazione Policlinico S.Matteo IRCCS, Univesity of Pavia, P.le Golgi, 2, 27100 Pavia, Italy. s.savasta@smatteo.pv.it
pubmed:publicationType
Journal Article, Case Reports