Osteogenesis imperfecta type II: postmortem histological diagnosis on curettage material

Abstract

Introduction Osteogenesis imperfecta type II is one of the more common lethal skeletal dysplasias with prenatal onset. The prenatal ultrasound scan may suggest the presence of severe short limb skeletal dysplasias and can accurately predict lethality, but the final diagnosis, typing and subtyping of the specific genetic skeletal disorder are mainly based on the postmortem radiography. Histopathology of the bone and car- tilage can be contributory in vari- ous skeletal dysplasias, and, in the case of osteogenesis imperfecta can be diagnostic. We describe a case of osteogenesis imperfecta type II diagnosed in a 14-week gestation foetus on the basis of the typical histopathological findings on curet- tage material. This report highlights the utility of histological diagnosis in certain skeletal dysplasias, even in the absence of reliable postmor- tem radiographic control, as is the case with curettage material in early termination of pregnancy. In addi- tion, we document the presence of limb and rib fractures as early as the 14th week of gestation, and confirm that osteogenesis imperfecta type II can present in the first-trimester ultrasound scan with increased nuchal translucency, ventriculo- megaly and generalised oedema,