title: Congenital heart defects in Aarskog syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Fernandez
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: H
authors.initials: H
authors.lastname: Mito
authors.forename: H
authors.initials: H
authors.lastname: Yoshii
authors.forename: M
authors.initials: M
authors.lastname: Uchida
authors.forename: K
authors.initials: K
authors.lastname: Matsuo
authors.forename: T
authors.initials: T
authors.lastname: Kajii
mesh_terms: 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