Aarskog-Scott Syndrome

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Am J Med Genet. 1994 May 1;50(4):318-22.
Congenital heart defects in Aarskog syndrome.
Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, Kajii T.
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.

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.

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