Mild clavicular Normal resorption mechanical Acroosteolysis fat skin changes Mild flexion contractures Dysmorphic facies Werner 2nd skin changes Growth failure IR/DM syndrome AR Limbs Tissue Osteoporosis N N N Short stature Myocardial ↑TG (RECQL2) calcification Cataracts infarction and ulceration ↑Cancer Alopecia Altered skin Dysmorphic facies pigment Mild MR in some Syndrome AR Polydactyly DM Reduced fertility Growth failure patients (BLM) ↑Cancer Low PCYT1A Liver Growth failure AR Limbs C steatosis Short stature IR/DM ↑TG
Normal mechanical fat skin changes Mild clavicular resorption Acroosteolysis Mild flexion contractures Werner syndrome (RECQL2) AR 2nd Limbs skin changes Tissue calcification and ulceration Alopecia Osteoporosis Myocardial infarction IR/DM ↑TG N N N Dysmorphic facies Growth failure Short stature Cataracts ↑Cancer Syndrome (BLM) AR Altered skin pigment Polydactyly DM Mild MR in some patients Reduced fertility Dysmorphic facies Growth failure ↑Cancer PCYT1A AR Limbs Low IR/DM ↑TG Liver steatosis Growth failure Short stature C
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