The Journal of Bone and Joint Surgery (American). 2009;91:81-86.
doi:10.2106/JBJS.I.00073
© 2009 The Journal of Bone and Joint Surgery, Inc.
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Genetics of Radial Deficiencies

Esther de Graaff, PhD1 and Scott H. Kozin, MD2

1 Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. E-mail address: e.degraaff@erasmusmc.nl
2 Shriners Hospital for Children, 3551 North Broad Street, Philadelphia, PA 19140-4131. E-mail address: skozin@shrinenet.org

The first 150 words of the full text of this article appear below.


   Introduction
 
More than 15% of the anomalies described in the London Dysmorphology Database are associated with various manifestations of radial longitudinal deficiency1. Their etiology may be genetic, environmental, or a combination of these factors. While most of the known inherited disorders are single-gene disorders, family members carrying the same mutation often show a range of phenotypes. This indicates that other genes and/or the environment play a large role in the phenotypic variability of radial longitudinal deficiency.

Approximately one-third of radial longitudinal deficiencies are isolated malformations2,3. The remaining deficiencies are considered syndromic and can be associated with other anomalies, most commonly of the heart, kidney, blood, or gastrointestinal tract. Syndromes frequently associated with radial longitudinal deficiencies include thrombocytopenia-absent radius (TAR) syndrome, the VACTERL association (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal anomalies, and limb anomalies), Holt-Oram syndrome, and Fanconi anemia2,3, which will be described in more detail . . . [Full Text of this Article]


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