Ulnar-mammary syndrome

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 syndrome 'ulnar-mammary syndrome type Pallister'. McKusick5 adopted this name in his catalogue from 1978 (McKusick No 19145), and since the fifth edition, both codes are found separately in Mendelian inheritance in man. Gonzales et a14 found a paper from the 19th century in which another woman with possibly the same syndrome was described.6 Temtamy and McKusick presented findings and photographs of Schinzel's family in their book Genetics of hand malformations and