title: Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study.
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.
authors: Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland. niklas.pakkasjarvi@helsinki.fi
authors: Niklas
authors: N
authors: Pakkasjärvi
authors: Eeva
authors: E
authors: Koskimies
authors: Annukka
authors: A
authors: Ritvanen
authors: Yrjänä
authors: Y
authors: Nietosvaara
authors: Outi
authors: O
authors: Mäkitie
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D001003:Anal Canal / Q000002:abnormalities; D002887:Chromosomes, Human, Pair 18; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D005387:Finland / Q000453:epidemiology; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D050498:Live Birth; D008297:Male; D015995:Prevalence; D013131:Spine / Q000002:abnormalities; D050497:Stillbirth / Q000235:genetics; D014132:Trachea / Q000002:abnormalities; D014314:Trisomy / Q000175:diagnosis*