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Abstract

January-March 2015 | Vol. 8 | Issue 1 | Page No 6-10
Radial Ray Defects: Genetics and Syndromic Etiologies
Sankar VH
Genetic Division, Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, Kerala
Address for Correspondence Email: sankarvh@gmail.com
 
Abstract
Limb anomalies are a commonly occurring group of malformations, deformations and disruptions due to the developmental complexity of the limbs, their extended period of morphogenesis and their position outside the body wall. Limb malformations can be a part of chromosomal aberrations or an array of single gene disorders or may occur due to environmental teratogens. Radial ray defects are a group of limb malformations characterized by unilateral or bilateral absence of the radial ray which consists of the radius and thumb (Fig.1). The prevalence of radial ray defects is low and varies between 1 in 30,000 to 1 in 100,000 with syndromic causes accounting for approximately two-third of cases.1 The common syndromes associated with radial ray defects are Holt-Oram syndrome, Fanconi anemia, TAR syndrome and VACTERL association. In addition, chromosomal disorders such as trisomy 18 can also cause radial ray defects along with significant growth and developmental delay and other congenital anomalies. In this review syndromes associated with radial ray defects are discussed.
 
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