CONGENITAL HEART-DEFECTS IN AARSKOG SYNDROME

We report on 10 Japanese individuals from 3 families affected with Aar skog syndrome. Pulmonary stenosis and ventricular septal defect with s pontaneous closure were detected respectively, in 2 of them as an unco mmon finding. A review documented 169 non-Japanese cases (2 with conge nital heart defects), while of 30 Japanese individuals reported till n ow, 4 (including ours) had cardiac anomalies. We propose that this com bination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated. (C) 1994 Wiley-Liss, Inc.