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Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly.

We report the case of a boy born with multiple congenital abnormalities. These included chorioretinal coloboma, ventricular septal defect (confirmed on echocardiography), 11 pairs of ribs, preaxial polydactyly (Figs 1 and 2), tracheo-oesophageal fistula, choanal atresia, genital hypoplasia and dysmorphic features including epicanthic folds and bilateral low-set ears. He also had gastrooesophageal reflux. His birthweight was 2.2 kg. A clinical diagnosis of CHARGE syndrome was made.