Multiple epiphyseal dysplasia

Figures & data

Figure 1.  Pedigree of the 6-generation family showing the 17 members affected by multiple epiphyseal dysplasia. Black symbols represent affected individuals. An arrow indicates the proband.

Clinical findings in the MED patients.

Patient	Present age	Sex	Age at onset of knee pain	Height (cm)	Age at onset of hip pain	Age at surgery
III:2	95	M	5	170	60	93 (THR)
III:6	93	F	4	174	55	65, 76 (THR); 19, 85 (knees)
III:9	86	F	6	160	60	77 (THR); 32, 44 (knees)
IV:1	67	F	7	159	–	50 (elbows)
IV:2	65	F	7	161	–	43 (knees)
IV:5	71	M	2	183	–	–
IV:9	60	M	4	172	–	–
IV:10	59	M	4	170	–	–
IV:14	52	F	4	161	30	36, 42 (knees)
V:3	42	F	5	178	–	–
V:5	31	F	3	153	–	–
V:6	22	F	3	157	–	–

THR: total hip replacement.

Figure 2.  Subject IV:10. Left knee at age 12. The figure shows typical findings with irregular ossification of the epiphyses and delayed ossification of the patella.

Figure 3.  Subject IV:2. Left knee at age 15. The femoral epiphyses are flattened, especially the medial one.

Figure 4.  Subject III:6. Left knee at age 40. The femoral condyles are flattened and there is obvious osteoarthritis. A separate bone fragment dorsal to the patella is seen in the lateral view.