Abstract
CHARGE syndrome affects up to 1 in 8500 births, and is most commonly due to de novo truncating mutations in the CHD7 gene. In addition to the 4 major (choanal atresia, coloboma, cranial nerve dysfunction and characteristic ear abnormalities) and 7 minor features (genital hypoplasia, developmental delay, cardiac anomalies, growth retardation, orofacial clefting, tracheo-oesophageal fistula and characteristic facies) proposed by Blake et al. [K.D. Blake, S.L.H. Davenport, B.D. Hall, M.A. Hefner, R.A. Pagon, M.S. Williams, A.E. Lin, J.M. Graham Jr., CHARGE association: an update and review for the primary pediatrician, Clin. Pediatr. (Phila) 37 (1998) 159–173.], many different features have been described in affected patients. Limb defects do not feature in the original designation of the condition, but occasional reports have noted tibial aplasia and other less severe limb anomalies. Presented here is the first case of radial aplasia in a patient with CHARGE syndrome due to a novel frameshift mutation of CHD7.
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