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10 Cards in this Set
- Front
- Back
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Gaucher's dz:
1. inheritance pattern 2. defect 3. result 4. 3 clinical findings 5. 5 areas affected 6. tx |
1. AR
2. beta-glucocerebrosidase 3. accum'd glucocerebroside 4. HSM, aseptic necrosis of femur, bone crises 5. all from defective monocyte derivatives: bone marrow, liver, bone, lung, spleen 6. enzyme replace tx through IV dosing |
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4 components of Marfan syndrome
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1. family hx
2. skeletal 3. cardiovascular 4. ocular |
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2 most common genetic causes of MR/ID
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1. down syndrome
2. Fragile X syndrome |
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Fragile X syndrome:
1. type of disorder 2. gene responsible 3. 5 findings |
1. X linked trinucleotide repeat: (CGG)n
2. FMR1 gene is nonfxnal through methylation 3. macro-orchidism, large jaw, large ears, autism, MVP |
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Duchenne muscular dystrophy:
1. type of inheritance 2. result 3. clinical presentation 4. What is Gower's sign |
1. X-linked, frameshift mutation
2. deleted dystrophin gene, increased muscle breakdown 3. pelvic girdle weakness, progressing superiorly 4. using upper extremities to stand up from ground |
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Becker's muscular dystrophy:
1. type of inheritance 2. result 3. compare to DMD |
1. X linked mutation
2. altered dystrophin gene, but still present 3. BMD is milder phenotype, presents in adolescence/adulthood |
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Beckwith-Wiedermann syndrome:
1. type of inheritance 2. defect 3. 6 presenting sxs |
1. AD
2. duplication of IGF receptor gene 3. high birth weight, neonatal hypoglycemia, umbilical hernia, macroglossia, hemihypertrophy, ear creases |
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2 tumors commonly found in pts w/ Beckwith-Wiedermann syndrome
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1. Wilm's tumor
2. hepatoblastoma |
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4 parts of dx of Fetal Alcohol Syndrome
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1. EtOH use of mom
2. dysmorphic features 3. growth deficiency 4. cognitive delays |
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List 5 clinical signs of Fetal Alcohol syndrome
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1. microcephaly
2. low birth weight 3. failure to thrive 4. hearing loss 5. congenital heart defects |
