Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, Kajii T
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Am J Med Genet. 1994 May 1;50(4):318-22. doi: 10.1002/ajmg.1320500404.
We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non-Japanese cases (2 with congenital heart defects), while of 30 Japanese individuals reported till now, 4 (including ours) had cardiac anomalies. We propose that this combination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated.
