Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations.

Five neonates with perinatally lethal osteogenesis imperfecta (OI) have come to necropsy at Women & Infants' Hospital of Rhode Island in the past eight years. Four had true hydrocephalus, defined as enlargement of the lateral ventricles with thinning of the cortical mantle. In all 4 hydrocephalus was diagnosed by sonography before birth. All 4 died almost immediately after birth, whereas the neonate without hydrocephalus lived for 22 days. Significant necropsy findings in the 4 with hydrocephalus included healing occipital-bone fractures with stenosis of the foramen magnum, remote and recent cerebral parenchymal and intraventricular hemorrhage, and remote and recent subarachnoid hemorrhage. True hydrocephalus of intrauterine onset has rarely been described in perinatally lethal OI, but its high incidence (80%) in this population suggests that it may be a common phenomenon. Hydrocephalus of intrauterine onset in perinatally lethal OI may indicate relatively more severe disease.