How to Cite this Article: Pakkasjärvi N, Koskimies E, Ritvanen A, Nietosvaara Y, Mäkitie O. 2013. Characteristics and associated anomalies in radial ray deficiencies in Finland—A population-based study. Am J Med Genet Part A 161A:261–267.
Characteristics and associated anomalies in radial ray deficiencies in Finland—A population-based study†
Article first published online: 15 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 2, pages 261–267, February 2013
How to Cite
Pakkasjärvi, N., Koskimies, E., Ritvanen, A., Nietosvaara, Y. and Mäkitie, O. (2013), Characteristics and associated anomalies in radial ray deficiencies in Finland—A population-based study. Am. J. Med. Genet., 161: 261–267. doi: 10.1002/ajmg.a.35707
- Issue published online: 24 JAN 2013
- Article first published online: 15 JAN 2013
- Manuscript Accepted: 3 SEP 2012
- Manuscript Received: 3 OCT 2011
- radial ray deficiency;
- multiple anomalies;
- heart–hand association;
Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993–2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant. © 2013 Wiley Periodicals, Inc.