Osteogenesis imperfecta congenita, perinatal lethal form (medical condition)

A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes. See also Osteogenesis imperfecta, type 2A

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