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

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Onur Işık

Muhammet Akyüz

Mehmet Fatih Ayık

Yüksel Atay

Yayımlanma Tarihi

1 Haziran 2015

Gönderilme Tarihi

1 Haziran 2015

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 1970 Cilt: 54 Sayı: 2

DOI

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

IZ

https://izlik.org/JA44LL44AT

Kaynak Göster

RIS / Bibtex

Vancouver

1.Onur Işık, Muhammet Akyüz, Mehmet Fatih Ayık, Yüksel Atay. Holt-Oram sendromu: Nadir bir olgu sunumu. ETD. 01 Haziran 2015;54(2):89-91. doi:10.19161/etd.344119

Holt-Oram sendromu: Nadir bir olgu sunumu

The Holt-Oram syndrome: Report of a rare case

Abstract

Keywords