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Differential Diagnosis & Pitfalls

• Child abuse – Type IV is most likely to be confused with child abuse. Differentiating signs include types of fractures, serial x-rays to show healing, associated nonskeletal abnormalities such as retinal hemorrhage, signs of intracranial bleeding, splenic trauma, and visceral intramural hematomas. Note: Osteogenesis imperfecta and child abuse may coexist.
• Camptomelic dysplasia – A congenital short-limb skeletal dysplasia characterized by prenatal bowing of the lower limbs.
• Achondrogenesis type I – Extremely short limbs, craniofacial abnormalities.
• Congenital hypophosphatasia – Due to absence of alkaline phosphatase in the serum resulting in a diffuse lack of calcium deposition in the bones. Vomiting, failure to gain weight, and enlargement of the epiphyses like that seen in rickets usually occur. Bony deformities and dwarfism are present.
• Steroid-induced osteoporosis
• Copper deficiency / Menkes syndrome – Kinky hair with pili torti and x-ray changes in long bones.

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