What is the most likely diagnosis?
- 1 month old with blue sclerae
"Babygram"
- Rickets
- Hemophilia
- Osteopoikilosis
- Osteogenesis Imperfecta
- Scurvy
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Answer:
4. Osteogenesis Imperfecta
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Osteogenesis Imperfecta
General Considerations
- Hereditary, non-sex linked disorder leading to increased fragility of the bones
- Caused by mutations in genes that code for type I procollagen (COL1A1 and COL1A2)
- Hearing loss occurs in half of Type I individuals
- There are 4 types