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Related Experiment Videos

[Osteogenesis imperfecta].

J Hamuy, J C Nissen Abente, P R Rolón Arámbulo

    Boletin Medico Del Hospital Infantil De Mexico
    |November 1, 1976
    PubMed
    Summary

    Osteogenesis imperfecta is extremely rare in Paraguay, with only five cases identified over 28 years. This study highlights the challenges in diagnosing and managing this rare bone disease in pediatric patients.

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    Revista colombiana de pediatria y puericultura·1954

    Area of Science:

    • Pediatrics
    • Genetics
    • Orthopedics

    Context:

    • Review of clinical files from a major pediatric center in Paraguay.
    • Analysis of 33,555 admissions over a 28-year period (1948-1976).
    • Focus on the rarity of osteogenesis imperfecta (OI) in the region.

    Purpose:

    • To report and analyze the rare clinical cases of osteogenesis imperfecta (OI) encountered.
    • To describe the clinical presentation and characteristics of OI in pediatric patients.
    • To emphasize the low incidence of OI in Paraguay.

    Summary:

    • Five cases of osteogenesis imperfecta (OI) were identified among 33,555 pediatric admissions.
    • One case presented as congenital OI, while four were late-onset OI.
    • Clinical features included generalized osteoporosis, blue sclera, and multiple fractures (femur, radius, tibia, fibula, humerus, ulna).
    • Affected children ranged in age from three months to a school age.

    Impact:

    • Highlights the extreme rarity of osteogenesis imperfecta in Paraguay.
    • Contributes to the limited regional data on pediatric bone diseases.
    • Underscores the importance of recognizing OI in diverse clinical settings.

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