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Family history and characteristic features, such as blue sclerae or deafness, establish the diagnosis. Whenever possible, collagen biochemical studies of cultured skin fibroblasts should be performed. Prenatal diagnosis may be available for certain families with an identified mutation. Prenatal ultrasound performed as early as 16 weeks may show evidence of severe osteogenesis imperfecta. X-rays showing evidence of multiple old fractures and skeletal deformities and a skull X-ray showing wide sutures with small, irregularly shaped islands of bone (wormian bones) between them support the diagnosis. These findings can help differentiate osteogenesis imperfecta from child abuse or from other disorders such as juvenile idiopathic osteoporosis.
In a family with a history of type II osteogenesis imperfecta, diagnostic serial ultrasound should be considered for future pregnancies to detect limb shortening, in utero fractures, and polyhydramnios.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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