Table 1

Clinical, laboratory, and radiographic data from 15 patients with progressive diaphyseal dysplasia

Patient
III.5III.7III.8III.10III.11IV.1IV.2IV.3IV.4IV.5IV.6IV.7IV.9IV.10IV.12
Age at onset of symptoms (y)30202015211514310108518132
Age at examination (y)54645142472516363429238201626
Pain in limbsPMoPMiPMiPMiPMiPMiPMiPMoPMoPMoPMoPMiAAPS
Easy fatiguabilityPMoPMiAPMiAPMiAPMoPMiPMoPMoAAPMiPMo
HeadacheAAAPMiAAPMiAPMiAAAPMiAA
Poor appetiteAAAPMiAPMiAAAAAAAAPMi
Poor muscle massAAAAAAAPMiAPMoAPMiAAPMo
Waddling gaitPMiPMiAAAPMiAPMiPMiPMoPMoAAAPS
Radiographic bone changesPMoPSPMoPMoPMiPMoPMiPSPSPSPSPMiPMiPMiPS
Haemoglobin (g/dl)13.613.214.912.912.915.313.313.714.514.613.312.813.914.713.7
Erythrocyte sedimentation rate mm/h1428131191113161561110416
Alkaline phosphatase (U/l)27428124332820355257203105467197
  • P, present; A, absent; S, severe; Mo, moderate; Mi, mild.