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  1. Edwards Syndrom - trisomy 18
    • Characteristics: clentched fists and overlapping fingers
    • kidney and heart problems
    • caused by none disjunction, no acrocentric chromasome
  2. 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
  3. 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)
  4. Erb-Duchenne Palsy
    • waiter's tip
    • C5/C6 nerve root injury
    • paralysis of lateral rotators (axillary nerve) extensors (radio nerve) and abductors (deltoids)
  5. Klumpke Paralysis
    • C8-T1 root damage
    • ulnar nerve injury knocks out ulnar flexor of the hand
  6. Calles Fracture
    • Distal radius fracture
    • Hand displaced posteriorly (dinner fork)
    • median and ulnar nerve damage
  7. smith fracture
    • distal radius fracture
    • hand displaced anteriorly
    • acute carpal tunnel, volkmann's ischemic contracture
  8. Duchenne's muscular distrophy
    • Dystroglycan defect
    • progressive muscle weakness
    • X recessive - only in males
  9. 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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