yogabook / pathologie / osteogenesis imperfecta – brittle bone disease
Contents
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
- autosomal dominant inherited disorder, more rarely autosomal recessive . 2 forms:
- Early form: bone fractures in the uterus even before birth, often stillbirths, maximum life expectancy of 2 a
- Late form: born normally, during the transition from crawling to walking: first susceptibilities, these decrease after puberty.
Symptoms
- see Forms, additional symptoms possible:
- blue sclera
- Hearing loss
- Short stature
- skeletal deformities
- Scoliosis, kyphosis
- hyperextensible joints
- Weak muscles
- Heart valve malformations with insufficiencies
- Open ventricular septum (ASD)
- Hyperhidrosis
- Tendency to hernias
- Myopia
- wide fontanelles
- Rubber head (soft skull)
Therapy
- Walkers
- Wheelchairs
- Calciton input
- high vitamin D doses
- Mg doses