The Holt-Oram syndrome: Report of a rare case
Journal Title: Ege Tıp Dergisi - Year 2015, Vol 54, Issue 2
Abstract
The Holt-Oram Syndrome (HOS) is a congenital autosomal hereditary disease characterized by abnormalities of the upper limb skeleton and the heart. This syndrome was first described in 1960 by Mary Clayton Holt and Samuel Oram from the members of a family with congenital heart disease and skeletal deformities on upper extremities with autosomal dominant transmission. It includes a set of cardiac disorders and thumb aplasia or hypoplasia which may arise in variety forms. The incidence of HOS is estimated at 1:100.000 births. In the literature, this syndrome is also named as atriodigital syndrome, heart-hand syndrome, upper limb-cardiovascular syndrome, cardiac-limb syndrome or cardiomelic syndrome. Herein we present a HOS in a 12-year-old male that has multiple upper limb deformities and atrial septal defect.
Authors and Affiliations
Onur IŞIK, Muhammet Akyüz, Mehmet Fatih AYIK, Yüksel Atay
Keywords
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- EP ID EP342247
- DOI 10.19161/etd.344119
- Views 106
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