The CHARGE association.

The CHARGE association We read with interest the proposal of a new autosomal recessive syndrome by Hurst etal Med Genet 1989;26:407-9) based on the description of two sibs with ASD, VSD, developmental delay, poor growth, microcephaly, low set, posteriorly rotated ears, and other dysmorphic features. The brother had choanal stenosis and the sister was also suspected to have choanal stenosis, but this was not proven. The authors eliminated CHARGE association because they concluded that it is a sporadic defect. However, there have been several reports of familial CHARGE association, also known as CHARGE syndrome. Metlay et all reported one such family and reviewed eight others in published reports. Of these, six appeared most likely to be autosomal dominant, two to be auto-somal recessive, and one involved affected monozygotic twins and so could be either dominant or recessive. Two additional sets of affected mono-zygotic twins have been reported,2 3 as well as another family that appears to represent autosomal recessive inheritance .4 Thus, CHARGE association appears to be aetiologically heterogeneous with most cases sporadic but a small yet significant percentage familial. The boy reported by Hurst et al satisfies five of the seven major criteria for CHARGE (congenital heart disease, choanal stenosis, growth deficiency , mental deficiency, and ear anomalies) and had two other commonly reported findings (microcephaly and micrognathia). His sister meets four major criteria (congenital heart disease, growth deficiency, mental retardation, and ear anomalies), lacking only the choanal stenosis, although the authors suspected that she also had this. Choanal atresia rather than stenosis is the typical anomaly in CHARGE, but stenosis has been reported as a variant in CHARGE as have some of the dysmorphic features seen in these two patients, that is, long philtrum and high palate.5 The published photographs of the sibs both appear to show some degree of facial asymmetry with raised left eyes. Facial asymmetry is commonly observed in children with CHARGE association.2 Therefore we suggest that, rather than a new recessive syndrome, the brother and sister appear to have CHARGE syndrome. No ophthalmological or audiological examinations were reported; these studies are strongly indicated in any child with CHARGE syndrome. Thank you for the opportunity to reply to the letter from Drs Bialer and Brown. After careful consideration of the points raised in the letter we do not think that the brother and sister we described have the CHARGE association. While the CHARGE association was …