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8 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Coarse facial features
restricted joint movement high plasma levels of lysosomal enzymes Fatal in childhood |
I-cell disease
What is the mechanism |
Failure M6P addition to lysosomal proteins
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Recurrent pyogenic infections
Partial albinism Peripheral neuropathy |
Chediak Higashi syndrome
What is the mechanism |
Microtubule polymerization defect resulting in decreased phagocytosis
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Male and female infertility
bronchiectasis Recurrent sinusitis |
Kartagener's syndrome
What is the mechanism? What heart defect is associated? |
Immotile cilia due to dynein arm defect
Situs inversus |
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Hyperextensibility of skin
easy bruising hypermobile joints Can be associated with joint dislocation, berry aneurysm, organ rupture |
Ehlers-Danlos
What is the mechanism? What type is most frequently affected? What is the inheritance? |
Faulty collagen synthesis
MC type III Varied inheritance (AR/AD) |
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Multiple fractures with minimal trauma, possibly during birth
Ocular choroid translucency Abnormal ossicles Dental abnormalities |
Osteogenesis imperfecta
What is the mechanism? What may it be confused with? Which type is fatal? Is it common? |
Variety of bone malformations
MC: Type I collagen DDx: child abuse Type II fatal IU or neonatal |
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Hereditary nephritis
Deafness Ocular disturbances |
Alport's syndrome
What is the mechanism? What is the MC inheritance? |
Type IV collagen is integral to BM of kidneys, ears, and eyes
MC XLR |
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Mental retardation
Seizures Ataxia Inappropriate laughter |
Angelman's syndrome
What are the two mechanisms? What chromosome is involved? What is a related disease with a similar mechanism? |
Deletion of normally active maternal allele by 1) inactivation or 2) uniparental disomy
Chromosome 15 Prader-Willi (deletion of normally active paternal allele) |
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Mental retardation
obesity hypogonadism hypotonia |
Prader-Willi syndrome
What is the mechanism and chromosome? |
Deletion (imprinting/methylation) of normally active paternal allele on chromosome 15
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