Characteristics and associated anomalies in radial ray deficiencies in Finland—A population-based study

Authors

  • Niklas Pakkasjärvi,

    Corresponding author
    1. Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
    2. Departments of Orthopaedics and Traumatology, Helsinki University Central Hospital, Helsinki, Finland
    • Children's Hospital, Helsinki University Central Hospital and University of Helsinki, P.O. BOX 281, FIN-00029 HUS, Finland.
    Search for more papers by this author
  • Eeva Koskimies,

    1. Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
    2. Turku Children's Hospital, Turku University Central Hospital, Turku, Finland
    Search for more papers by this author
  • Annukka Ritvanen,

    1. National Institutes for Health and Welfare, Helsinki, Finland
    Search for more papers by this author
  • Yrjänä Nietosvaara,

    1. Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
    Search for more papers by this author
  • Outi Mäkitie

    1. Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
    2. Folkhälsan Research Center, Helsinki, Finland
    Search for more papers by this author

  • 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.

Abstract

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.

Ancillary