IMR Press / CEOG / Volume 43 / Issue 1 / DOI: 10.12891/ceog3060.2016

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Case Report
Holt Oram syndrome: a case report and review of the literature
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1 Gynecologic and Obstetric Clinic, Department of Surgical, Microsurgical and Medical Sciences. University of Sassari, Sassari
2 Gynecologic and Obstetric Clinic, University of Padua, Padua (Italy)
Clin. Exp. Obstet. Gynecol. 2016, 43(1), 137–139; https://doi.org/10.12891/ceog3060.2016
Published: 10 February 2016
Abstract

Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.
Keywords
Holt Oram syndrome
Obstetric ultrasound
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