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Edwards Syndrom - trisomy 18
- Characteristics: clentched fists and overlapping fingers
- kidney and heart problems
- caused by none disjunction, no acrocentric chromasome
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Patau Syndrom - trisomy 13
- very similar to edwards
- clentched fists and overlapping fingers
- kidney and heart problems
- cause none disjuction or robertsonian translocation of 13th acrocentric chromasome
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Downs Syndrome - Trisomy 21
- Characteristics: semian hands, abnormal shape of heads
- Mental retardation and heart problems
- hypothyroidism
- from none disjunction or robertsonian translocation with chromasome 14 (46XY,rob(14;21),+21)
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Erb-Duchenne Palsy
- waiter's tip
- C5/C6 nerve root injury
- paralysis of lateral rotators (axillary nerve) extensors (radio nerve) and abductors (deltoids)
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Klumpke Paralysis
- C8-T1 root damage
- ulnar nerve injury knocks out ulnar flexor of the hand
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Calles Fracture
- Distal radius fracture
- Hand displaced posteriorly (dinner fork)
- median and ulnar nerve damage
-
smith fracture
- distal radius fracture
- hand displaced anteriorly
- acute carpal tunnel, volkmann's ischemic contracture
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Duchenne's muscular distrophy
- Dystroglycan defect
- progressive muscle weakness
- X recessive - only in males
-
Dystrophic epidermolysis bullosa
- Collagen VII mutation
- Epithelium detachment at the basement membrane
- blistering at lamina lucida
- or defective anchoring fibrils VII collagen
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