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osteogenesis imperfecta – brittle bone disease

Definition of

Congenital disorder of bone formation (altered collagen type I), which is associated with severe deformities and increased bone fragility (rare but slowly becoming more popular)

ICD Q78

Cause

1. autosomal dominant inherited disorder, more rarely autosomal recessive . 2 forms:
   1. Early form: bone fractures in the uterus even before birth, often stillbirths, maximum life expectancy of 2 a
   2. Late form: born normally, during the transition from crawling to walking: first susceptibilities, these decrease after puberty.

Symptoms

1. see Forms, additional symptoms possible:
2. blue sclera
3. Hearing loss
4. Short stature
5. skeletal deformities
6. Scoliosis, kyphosis
7. hyperextensible joints
8. Weak muscles
9. Heart valve malformations with insufficiencies
10. Open ventricular septum (ASD)
11. Hyperhidrosis
12. Tendency to hernias
13. Myopia
14. wide fontanelles
15. Rubber head (soft skull)

Therapy

1. Walkers
2. Wheelchairs
3. Calciton input
4. high vitamin D doses
5. Mg doses