Blue sclera in<unk>  Diagnosis is typically based on medical imaging, including plain X-rays, and symptoms. In severe<unk> , signs on medical imaging include abnormalities in all extremities and in the spine. As X-rays are often insensitive to the comparatively smaller bone density loss associated with type I<unk> , DEXA scans may be needed. An<unk>  diagnosis can be confirmed through DNA or collagen protein analysis, but in many cases, the occurrence of bone fractures with little trauma and the presence of other clinical features such as blue sclerae are sufficient for a diagnosis. A skin biopsy can be performed to determine the structure and quantity of type I collagen. While DNA testing can confirm the diagnosis, it cannot absolutely exclude it because not all mutations causing<unk>  are yet known and/or tested for.<unk>  type II is often diagnosed by ultrasound during pregnancy, where already multiple fractures and other characteristic features may be visible. Relative to control,<unk>  cortical bone shows increased porosity, canal diameter, and connectivity in micro-computed tomography.<unk>  can also be detected before birth by using an in vitro genetic testing technique such as amniocentresis. Genetic testing In order to determine whether<unk>  is present, genetic sequencing of the most common problematic genes, COL1A1, COL1A2, and IFITM5, may be done; if no mutation is found yet<unk>  is still suspected, the other 10+ genes known to cause<unk>  may be tested. Duplication and deletion testing is also suggested to parents who suspect their child has<unk> . 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<unk>  is child abuse, as both may present to a clinician with multiple fractures in various stages of healing. Differentiating them can be difficult, especially when no other characteristic features of<unk>  are present. This can become an issue in court; in the United States, several child abuse cases were resolved with a finding that<unk>  was the true cause of a child's fractures, leading to lawsuits seeking redress such as Alice Velasquez, et al. v. United States. 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. Various forms of osteoporosis, such as iatrogenic osteoporosis, idiopathic juvenile osteoporosis, disuse osteoporosis and exercise-related osteoporosis should also be considered as explanations when<unk>  is suspected.
Osteogenesis imperfecta
Lhermitte's sign
Dentinogenesis imperfecta
Cleidocranial dysostosis
Gerodermia osteodysplastica
Kyrle disease
Rhizomelic chondrodysplasia punctata
Acrodysostosis