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  • Title: Prenatal ultrasound diagnosis of the Holt-Oram syndrome.
    Author: Brons JT, van Geijn HP, Wladimiroff JW, van der Harten JJ, Kwee ML, Sobotka-Plojhar M, Arts NF.
    Journal: Prenat Diagn; 1988 Mar; 8(3):175-81. PubMed ID: 3287365.
    Abstract:
    The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.
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