In 1975, McKusick1 first mentioned a syndrome of ulnar ray defects and genital abnormalities, citing a personal communication from A Schinzel (1973), and named it 'Schinzel syndrome' (McKusick No 18145) in this and in all subsequent editions of his catalogue.2 One year later, Pallister et a13 and Gonzales et a14 described the same syndrome in two families, and the latter authors named the syndr...