TY - JOUR
T1 - Variable Expression of the Holt-Oram Syndrome
AU - Kaufman, Robert L.
AU - Rimoin, David L.
AU - Mcalister, William H.
AU - Hartmann, Alexis F.
PY - 1974/1
Y1 - 1974/1
N2 - The Holt-Oram syndrome is an autosomal dominant disorder consisting of upper-extremity and cardiovascular anomalies. Three families are described that illustrate (1) the wide variability of expression of both the cardiovascular and upper-extremity abnormalities, (2) the use of syndrome identification and knowledge of the genetics of this disorder to identify other affected family members and to provide appropriate genetic counseling, and (3) the use of roentgenographic studies to identify affected persons.
AB - The Holt-Oram syndrome is an autosomal dominant disorder consisting of upper-extremity and cardiovascular anomalies. Three families are described that illustrate (1) the wide variability of expression of both the cardiovascular and upper-extremity abnormalities, (2) the use of syndrome identification and knowledge of the genetics of this disorder to identify other affected family members and to provide appropriate genetic counseling, and (3) the use of roentgenographic studies to identify affected persons.
UR - http://www.scopus.com/inward/record.url?scp=0016007015&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1974.02110200023003
DO - 10.1001/archpedi.1974.02110200023003
M3 - Article
C2 - 4809791
AN - SCOPUS:0016007015
SN - 0096-8994
VL - 127
SP - 21
EP - 25
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 1
ER -