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8 Cards in this Set

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  • Back
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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
Recurrent pyogenic infections
Partial albinism
Peripheral neuropathy
Chediak Higashi syndrome
What is the mechanism
Microtubule polymerization defect resulting in decreased phagocytosis
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
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)
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
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
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)
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