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Radiologic Findings: Osteopenia with multiple fractures accompanied by deformities.

Diagnosis:Osteogenesis Imperfecta.

Discussion: Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by an unusual fragility of bone, leading to multiple fractures. The underlying abnormalities are an incomplete maturation of collagen fibers and a disorder of osteoblastic activity. The disease comprises a number of distinct syndromes. OI Type 1, the largest group, has an autosomal dominant inheritance with osteoporosis and gray-blue sclera. Children with Type 2 die before or soon after birth. The long bones are broad and crumpled and contain multiple fractures. Type 2 shows an autosomal recessive mode of inheritance. Type 3 is found in children with a severe form of the disease, resulting in progressive deformities and multiple fractures. Type 3 demonstrates both autosomal dominant and recessive inheritance patterns. OI type 4 has autosomal dominant inheritance with osteoporosis and normal sclera. Clinically, the more severe (congenital) type of disease manifests at birth with multiple fractures and deformities, generalized osteoporosis, and a soft skull with multiple wormian bones. The less severe (tarda) type of disease is usually not manifest at birth and corresponds to OI types 1 and 4.

References:
1. Juhl J, Crummy A, Paul and Juhl's Essentials of Radiologic Imaging, 5th ed, Lippincott 1987.

2.Taveras J, Ferrucci J, Radiology, Diagnosis-Imaging-Intervention, Lippincott.

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