Osteogenesis imperfecta type II: postmortem histological diagnosis on curettage material

manifestations that are regarded nontypical for the full-blown disease. Case report A 35-year-old G2P1 Caucasian woman had her first-trimester ultrasound evaluation. The histological picture was typical of osteogenesis imperfecta type II/III. The combination of severe distortion of the limb bones with rib and limb fractures, in association with the above histopathology, permitted the diagnosis of osteogenesis imperfecta type II. The parents were referred for genetic counselling and molecular confirmation of COL1A1 or COL1A2 mutations. Conclusion This report underscores the utility of histological diagnosis in certain skeletal dysplasias, even in the absence of reliable postmortem radiographic control, as is the case with curettage material in early termination of pregnancy.