The antenatal ultrasonographic detection of the Holt-Oram syndrome
Date
1985-08
Authors
Muller, L. M.
De Jong, G.
Van Heerden, K. M. M.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group -- HMPG
Abstract
The Holt-Oram syndrome is an autosomal dominant disease with 100% penetrance. No correlation exists between the maternal clinical expression and that of the affected offspring. The syndrome includes a wide range of cardiac and skeletal malformations. Real-time ultrasound, with a detailed study of the fetal heart and skeletal system, can play a crucial role in the counselling of affected pregnant women. This study describes the ultrasonographic findings of 2 affected fetuses at risk (at 34 and 14 weeks' gestational age). Ultrasonography detected and correctly estimated the severity of the cardiac and skeletal expressions.
Description
The original publication is available at http://www.samj.org.za
Keywords
Arm -- Abnormalities -- Genetic aspects, Hand -- Abnormalities -- Genetic aspects, Bones -- Abnormalities -- Genetic aspects
Citation
Muller, L. M., De Jong, G., Van Heerden, K. M. M. 1985. The antenatal ultrasonographic detection of the Holt-Oram syndrome. South African Medical Journal, 31 August: 313-315.