Holt Oram syndrome: a registry-based study in Europe.

ABSTRACT:

Background

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries.

Methods

The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS.

Results

A total of 73 cases of

SUBMITTER: Barisic I 

PROVIDER: S-EPMC4245183 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature