Linked Life Data

3816857

Source:http://linkedlifedata.com/resource/pubmed/id/3816857

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1987-3-30
pubmed:abstractText
Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical expression than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
145
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
539-44
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.
pubmed:publicationType
Journal Article, Case Reports