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DIABETES MELLITUS, SHORT STATURE AND JOINT STIFFNESS — A NEW SYNDROME

Three unrelated patients, 2 boys 18 1/2 and 19 years old and a girl aged 17, have stable insulin-dependent diabetes mellitus, short stature and joint stiffness beginning 8 to 13 years after the onset of diabetes. The older boy, after 16 years of diabetes, has small retinal hemorrhages, hypertension, azotemia and proteinuria. The younger boy developed diabetes at 14 months, has punctate retinal hemorrhages with no proteinuria, and the girl has proteinuria but no retinal changes; neither of these 2 has azotemia or hypertension. Stature of the 2 boys, who have attained final height following a normal adolescent spurt, is 17 and 25 cm. less than that of their fathers. The girl has familial delayed maturation and is near the end of an adolescent growth spurt with predicted final height 14 cm. less than maternal stature. Joint stiffness involves limited extension and flexion of interphalangeal, meta-carpophalangeal, wrist and ankle in all 3, neck and trunk in 2, toes and elbows in 2 and knee and hip in one. The girl has pes cavus. There is no pain or disability and no progression of joint stiffness after the 6 months to 1 year period of its development. Slight but definite improvement in mobility has been noted in 2 during 2-3 years of follow-up study. Roentgenograms show no intrinsic or periarticular abnormalities. Skin is thickened and was unusually difficult to cut; biopsies were studied by light and electron microscopy and for collagen turnover in tissue culture.