Index 377 165-169, 173, 175; inner ear, 165-167, 173-174; middle ear, 35, 165-167, 169-170, 172-173, 175; outer ear, 165 ear and hearing abnormalities in FA, 35, 165-177 education, school, vocational, 170-172, 203, 211, 224, 231, 265, 271-272, 297 elbow, 110, 112 encopresis, 79-80, 342 endocrine system, 134-164; androgen use, effect of on, see androgens; baseline evaluation, 134; bone mineral density, see osteopenia, osteoporosis; cortisol sufficiency, 138, 150, 340; diabetes, see diabetes; dyslipidemia, see dyslipidemia; endocrine issues in adults, 156-157; endocrine screening, 138; endocrinopathies in children and adolescents, 139; glucose abnormalities, see glucose abnormalities; growth hormone deficiency, see growth; height, see height; hematopoietic stem cell transplant (HSCT), effect on, 158-159; hyperglycemia, see hyperglycemia; hypothyroidism, see thyroid; insulin, abnormal metabolism of, see insulin; medications and treatments that affect endocrine function, 157-159; multiple hormonal deficiencies, effect on pituitary-hypothalamus, 150, see also pituitary; hypothalamus; multiple transfusion therapy, effect on, 158; puberty, effect on, see puberty endometrium, 124 endoscopy, 84, 91, 255, 342 eosinophilia, 213 epiphyseal closure, epiphyses, 58-59, 109, 343 erythrocyte sedimentation rate, 80, 343-344, 364 erythroplakia, 256-257, 344, see also head and neck squamous cell carcinoma esophageal, 35-37, 78; atresia, 46, 77-78, 344; bleeding, 84; gastrogesophageal reflux, see reflux; motility, 78; reflux, see reflux esophagus, cervical, 255 ethnic background, examples of FA populations, 276-278 European <strong>Fanconi</strong> <strong>Anemia</strong> <strong>Research</strong> Group, 281 European Group for Blood and Marrow Transplantation (EBMT), 223-224 exercise, 149, 224, 228 eyes, decreased tear production, 230; epicanthal folds, 35, 343; eye pain, with GvHD, 213; hemorrhagic conjunctivitis, 213; keratoconjunctivitis with sicca, 213, 230, 354; lagophthalmos, 213, 354; Schirmers’ test, 230, 364; Sicca Syndrome, 213, 365; small, close-set, 35
378 <strong>Fanconi</strong> <strong>Anemia</strong>: Guidelines for Diagnosis and Management FANCC IVS4, 45-46, 136, 277, 281 <strong>Fanconi</strong> anemia, definition of, 33; DNA damage response pathway, 41, 341 <strong>Fanconi</strong>, Guido, 165 fecal incontinence, 79 fertility, infertility, 121-122, 128, 154, 156, 159, 265, 268, 275, 285-286; affected by HSCT, 127, 131, 154, 212, 225, 227 fever, 71, 73, 212-213 fibroblasts, 42-44, 175, 187, 210 fibroids, endometrial, 124 finger, index, 102-105 flow cytometry, 43, 188 fluid retention, 212, 218 fluorescent in situ hybridization (FISH), 52-53, 188, 345 fluoride treatment, 260-261 folate deficiency, 35, 39, 49, 83, 345 forearm lengthening, 115-117; distraction osteogenesis, 115-116; wrist fusion, 117 Founder effect or mutation, 45, 276-277, 284, 345; Africaansspeaking South African, 277; Afrikaner, 45; Ashkenazi Jewish, 45, 277; Black South African, 277; Brazil, 45; Finnish, 284; French Acadian, 277; Indian 45; Israeli Arabs, 45; Japanese, 45, 277, 281; non-Ashkenazi Jewish Moroccan, 45; Portuguese-Brazilian, 277; Spanish Gypsy, 45; Sub-Saharan African Black, 45; Tunisian, 45 fructosamine levels, 146, 346 FSH (follicle-stimulating hormone), 138, 151, 232, 345, 347 galactorrhea, 158 gallbladder disease, 80 gastrogesophageal reflux (GER), see reflux gastrointestinal, 35, 71, 76-96, 121, 182, 213, 268; anal atresia, see anal atresia; appetite stimulants, see underweight; duodenal atresia, see duodenal; esophageal atresia, 78, see also esophageal; gastric emptying, 79, 81-82; gastritis, 81, 346; gastroesophageal reflux, see reflux; gastrointestinal symptoms, 79-82; gastrointestinal tract anatomic abnormalities, 77-78; gastroparesis, 86, 346; liver disease, see hepatic; nutrition as therapy, see medications; nutrition, supplemental, see nutrition; obesity and overweight, see obesity and overweight; peptic disorders, 81, 361; tracheoesophageal fistula, see tracheoesophageal fistula gastro-jejunal tube, 84
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