: 491–492  OI type II is often diagnosed by ultrasound during pregnancy, where already multiple fractures and other characteristic features may be visible. Relative to control, OI cortical bone shows increased porosity, canal diameter, and connectivity in micro-computed tomography. OI can also be detected before birth by using an in vitro genetic testing technique such as amniocentresis. Genetic testing
In order to determine whether osteogenesis imperfecta is present, genetic sequencing of the most common problematic genes, COL1A1, COL1A2, and IFITM5, may be done; if no mutation is found yet OI is still suspected, the other 10+ genes known to cause OI may be tested. Duplication and deletion testing is also suggested to parents who suspect their child has OI. The presence of frameshift mutations caused by duplications and deletions is generally the cause of increased severity of disease. Differential diagnosis
An important differential diagnosis of OI is child abuse, as both may present to a clinician with multiple fractures in various stages of healing. : 1514  Differentiating them can be difficult, especially when no other characteristic features of OI are present. : 391  This can become an issue in court; in the United States, several child abuse cases were resolved with a finding that osteogenesis imperfecta was the true cause of a childs fractures, leading to lawsuits seeking redress such as Alice Velasquez, et al. v. United States. : 391 Other differential diagnoses include rickets and osteomalacia, both caused by malnutrition, as well as rare skeletal syndromes such as Bruck syndrome, hypophosphatasia, geroderma osteodysplasticum, and Ehlers–Danlos syndrome.
Pilotto syndrome is a rare syndrome which affects the face, heart, and back. The syndrome can cause a cleft lip and palate, scoliosis, and mental retardation. The Office of Rare Diseases and National Institutes of Health have classified this syndrome as affecting less than 200,000 people in the United States. References


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