Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.

ABSTRACT

Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester.