Holt-Oram sendromu: Nadir bir olgu sunumu

Onur Işık; Muhammet Akyüz; Mehmet Fatih Ayık; Yüksel Atay

doi:10.19161/etd.344119

EN TR

The Holt-Oram syndrome: Report of a rare case

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.

Keywords

Holt-Oram syndrome, cardiac defect

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Onur Işık

Muhammet Akyüz

Mehmet Fatih Ayık

Yüksel Atay

Publication Date

June 1, 2015

Submission Date

June 1, 2015

Acceptance Date

-

Published in Issue

Year 1970 Volume: 54 Number: 2

DOI

https://doi.org/10.19161/etd.344119

IZ

https://izlik.org/JA44LL44AT

Cite

RIS / Bibtex

Vancouver

1.Onur Işık, Muhammet Akyüz, Mehmet Fatih Ayık, Yüksel Atay. Holt-Oram sendromu: Nadir bir olgu sunumu. EJM. 2015 Jun. 1;54(2):89-91. doi:10.19161/etd.344119

The Holt-Oram syndrome: Report of a rare case

The Holt-Oram syndrome: Report of a rare case

Abstract

Keywords