57 A STRUCTURAL DEFECT OF TYPE III COLLAGEN CAUSING EHLERS-DANLOS SYNDROME TYPE IV

The 22 year-old propositus had signs typical of Ehlers-Danlos syndrome type IV, i.e. thin and fragile skin, bleeding tendency from childhood, and recurrent haemato-pneunothorax, with normal joint mobility. His similarly affected father had died from internal hemorrhage at age 32 yrs. This syndrome has been attributed to deficient production of type III collagen (Pope et al., PNAS 72: 1314, 1975).