✦ LIBER ✦

Congenital heart defects in Aarskog syndrome

✍ Scribed by Fernandez, Isabel ;Tsukahara, Masato ;Mito, Hiroshi ;Yoshii, Hideki ;Uchida, Masashi ;Matsuo, Kiyosato ;Kajii, Tadashi

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 451 KB
Volume: 50
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320500404

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✦ Synopsis

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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