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Pubmed for Handhelds

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  • Title: The antenatal ultrasonographic detection of the Holt-Oram syndrome.
    Author: Muller LM, De Jong G, Van Heerden KM.
    Journal: S Afr Med J; 1985 Aug 31; 68(5):313-5. PubMed ID: 3898414.
    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.
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