Osteogenesis Imperfecta Flashcards Preview

SB_Genetics (Pediatrics Royal College 2018) > Osteogenesis Imperfecta > Flashcards

Flashcards in Osteogenesis Imperfecta Deck (3)
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1
Q

What is the inheritance of OI?

A

AD OI types I to V

AR OI types VII

2
Q

Which type is lethal in the newborn period?

A

OI type II

3
Q

What are the clinical manifestations of OI?

A
  1. Fractures of various ages and stages of healing
  2. Wormian bones
  3. Vertebral compression fractures
  4. Osteopenia
  5. Abnormal dentition incld. brown or gray teeth and weak teeth
  6. Progressive hearing loss
  7. Blue-coloured sclerae
  8. Ligamentous laxity