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26th February 2025
Osteogenesis imperfecta
Osteogenesis imperfecta is a heritable connective tissue disorder caused by type 1 collagen abnormalities, either decreased production or disrupted structure or processing.
Classification of osteogenesis imperfecta
Originally, four subtypes were described, and these are most commonly asked about in MRCP, although the disease is now felt to be a spectrum, and other subgroups have been added. Types I and IV encompass 90% of patients.
| Type | Genetics | Sclera | Features |
|---|---|---|---|
| Type I | Autosomal dominant
Quantitative defect |
Blue | Least severe
Fractures when start walking Hearing loss 50% |
| Type II | Autosomal recessive
Qualitative defect |
Blue | Die in utero or early infancy |
| Type III | Autosomal recessive
Qualitative defect |
Normal | Most severe survivable form
Fractures at birth |
| Type IV | Autosomal dominant
Qualitative defect |
Normal | Moderate severity
Bowing bones and vertebral fractures Hearing normal |
Table 7 Clinical features and heritability of osteogenesis imperfecta types I to IV
Clinical features of osteogenesis imperfecta
Other suggestive features include short stature, scoliosis, easy bruising, increased skin laxity and dental abnormalities. Very mild disease can present as premature osteoporosis, particularly postpartum, or accelerated osteoporosis following menopause.
Management is supportive, including physiotherapy, targeted surgical intervention as required, and screening for osteoporosis.
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