Diastrophic dwarfism.

It is important to establish the diagnosis of diastrophic dwarfism. Of 8 patients seen by the authors, 2 have died in infancy from aspiration pneumonia and respiratory failure. Long-term survival is associated with severe dwarfism and an ultimate height of about 140 cm. There is a con- tinuing need for clinical help during development in order to minimize the handicap from joint contractures, dislocations, club feet, and scoliosis. In spite of such care it is likely that a severe physical handicap will occur. Some of these patients have a cleft palate and some have swellings in the ears. Parents require advice on the genetic hazard. The purpose of this paper is to illustrate these points by reports of 4 patients.