Pulmonary stenosis, café-au-lait spots, and dull intelligence.

Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD). Family A was encountered when a boy (A2) with severe pulmonary stenosis and many caf&-au-lait spots was seen because of effort dyspnoea; soon afterwards his brother (A5) was referred because of dyspnoea, and was found to have severe pulmonary stenosis and a few cafe-au-lait spots. Subsequently one sister was found to have three large, and their father numerous, cafe-au-lait spots. In the case of family B, a boy (B2) with pulmonary stenosis and multiple cafe-au-lait spots was referred following the discovery of a murmur; his mother and brother also had many cafe-au-lait spots. The referral of Cl, with severe pulmonary stenosis and many cafe-au-lait spots, was due to increasing effort dyspnoea, and subsequently four half-sibs were found to have a few cafe-au-lait spots and pulmonary stenosis; cafe-au-lait spots alone were present in a full sib and a half sib and in the mother of all the sibs. So far as could be determined no other relatives had caf&-au-lait spots or pulmonary stenosis and there were no known consanguineous marriages. The three families came from different towns and had no known relatives in each other's home towns. The 6 parents, and their 14 surviving children, and a few other relatives have been examined physically; the fatal cases Cl and A5 had been seen several years ago and full details of their cafe-au-lait spots and intelligence are not available. Those showing the usual signs of pulmonary stenosis have