Congenital heart defects in Aarskog syndrome.
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.
Fernandez
I
I
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Tsukahara
M
M
Mito
H
H
Yoshii
H
H
Uchida
M
M
Matsuo
K
K
Kajii
T
T
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism; D005145:Face / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D013577:Syndrome; D014960:X Chromosome