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Endocrine, % 39 37 27 Any 21 17 Osteopenia/porosis, % of adults 73 Puberty abnormal 92 Abnormal lipids Short +/- GHD Glucose/insulin 51 55 65 Hypothyroid Obese Metabolic syndrome Midline brain Adapted from Giri et al, JCEM, 2007
Complications • Aplastic Anemia • Acute Leukemia • Myelodysplastic Syndrome • Solid Tumors • Liver Tumors
Page 1 and 2: Fanconi Anemia 101 Blanche P Alter,
Page 3 and 4: Learning Objectives 1. FA is no lon
Page 5 and 6: Fanconi Anemia: Children Photos wit
Page 7 and 8: Fanconi Anemia: Adult Examples •
Page 9 and 10: Probability 0.00 0.25 0.50 0.75 1.0
Page 11 and 12: FA: Laboratory Findings • Low blo
Page 13 and 14: Fanconi Anemia: Definition • Auto
Page 15 and 16: Autosomal Recessive Inheritance Aff
Page 17 and 18: Disease-Associated Mutations A muta
Page 19 and 20: FA: Complementation Groups/Genes Gr
Page 21 and 22: Who Should be Tested for FA • Cha
Page 23 and 24: Chromosome Breakage
Page 25 and 26: Complementation Analysis, Cloned FA
Page 27 and 28: Blood Production (Hematopoiesis) My
Page 29 and 30: Proof of Mosaicism in FA • Periph
Page 31: Gastroenterology • Anatomical •
Page 35 and 36: Aplastic Anemia: Signs and Symptoms
Page 37 and 38: FA: Treatment for Bone Marrow • T
Page 39 and 40: FA: Medical Treatment • Oxymethol
Page 41 and 42: FA Literature: Cancer Types 1927-20
Page 43 and 44: Log Observed/Expected Relative Risk
Page 45 and 46: Diagnosis of FA before Cancer • A
Page 47 and 48: Possible Causal Factors for Cancer
Page 49 and 50: FA: Adult Females • Late onset of
Page 51 and 52: FA Surveillance • Every 4-6 month
Page 53: www.marrowfailure.cancer.gov Clinic

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