Linked Life Data

7243439

Source:http://linkedlifedata.com/resource/pubmed/id/7243439

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1981-8-20
pubmed:abstractText
Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common recurrent pattern congenital malformation syndrome. Frequent features include cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent findings include microcephaly, mental retardation, small stature, slender hands and digits, minor auricular anomalies and inguinal hernia. Ths Robin malformation sequence was found in four patients. The congenital heart anomalies most frequently involved a ventricular septal defect, with or without a right-sided aortic arch. There were four instances of familial transmission in the sample population. These included two cases of maternal transmission of the syndrome to daughters, one case of maternal transmission to a son, and one case of maternal transmission to both a son and daughter. There was no particular difference in expression between male and female patients so that even though X-linked dominant transmission is possible, the velo-cardio-facial syndrome is likely to be an autosomal dominant recurrent pattern syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0031-4005
pubmed:author
pubmed:issnType
Print
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
167-72
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
The velo-cardio-facial syndrome: a clinical and genetic analysis.
pubmed:publicationType
Journal Article