RT Journal Article
SR Electronic
T1 A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 711
OP 713
DO 10.1136/jmg.25.10.711
VO 25
IS 10
A1 Sonoda, T
A1 Ohdo, S
A1 Madokoro, H
A1 Ohba, K
YR 1988
UL http://jmg.bmj.com/content/25/10/711.abstract
AB We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.