Two brothers have been described with osteochondritis dissecans in multiple joints and numerous developmental abnormalities, including a striking facial appearance, congenital ptosis of the eyelids, peculiar pinnae, osseous fusion of the manubriosternal joint with pectus excavatum, cryptorchidism, and short little fingers and fifth toes. The elder boy was eunuchoid, while the younger had camptodactyly and partial syndactyly.
The pertinent literature is reviewed and discussed with regard to the present patients. The osteochondritis dissecans in these patients was probably secondary to developmental abnormalities which were the result of a single gene.
Copyright 1967 by The Journal of Bone and Joint Surgery, Incorporated