The antenatal ultrasonographic detection of the Holt-Oram syndrome

Muller, L. M. ; De Jong, G. ; Van Heerden, K. M. M. (1985-08)

The original publication is available at http://www.samj.org.za

Article

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.

Please refer to this item in SUNScholar by using the following persistent URL: http://hdl.handle.net/10019.1/8014
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