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Posterior choanal atresia is a congenital malformation which can occur isolated or in combination to additional malformations. In CHARGE association the other anomalies are: coloboma, heart disease, retarded development/growth or central nervous system abnormalities, genital hypoplasia or hypogonadism and ear abnormalities or deafness. The authors present three cases of CHARGE association and they also review the clinical findings required for the diagnosis.

Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the Rolland-Desbuquois type is presented. The case is unusual because although it was the milder form, the child died on the 10th day of life.