The antenatal ultrasonographic detection of the Holt-Oram syndrome

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dc.contributor.authorMuller, L. M.
dc.contributor.authorDe Jong, G.
dc.contributor.authorVan Heerden, K. M. M.
dc.date.accessioned2011-03-18T14:59:44Z
dc.date.available2011-03-18T14:59:44Z
dc.date.issued1985-08
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractThe 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.en_ZA
dc.description.versionPublishers' version
dc.format.extent3 p. : ill.
dc.identifier.citationMuller, 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.
dc.identifier.issn2078-5135 (online) 0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/8014
dc.language.isoen
dc.publisherHealth and Medical Publishing Group -- HMPG
dc.rights.holderThe authors
dc.subjectArm -- Abnormalities -- Genetic aspectsen_ZA
dc.subjectHand -- Abnormalities -- Genetic aspectsen_ZA
dc.subjectBones -- Abnormalities -- Genetic aspectsen_ZA
dc.titleThe antenatal ultrasonographic detection of the Holt-Oram syndromeen_ZA
dc.typeArticle
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