The prenatal ultrasonographic diagnosis of osteogenesis imperfecta lethalis.
The ultrasonographic features of osteogenesis imperfecta lethalis (OI Type II), including those not reported previously (*), are: In the skull: *Abnormal compressibility of the vault by the transducer, which may alter measurements of biparietal diameter. *Unusually good visualization of the orbits. *Increased visualization of arterial pulsations. *Increased through-transmission of the ultra-sound beam due to extremely poor mineralization. In the remainder of the skeleton. *Diminished visualization and increased through-transmission of the remainder of the skeleton, particularly of the spine, ribs and long bones due to defective mineralization. *Abnormally short limbs and poor visualization of the long bones due to defective mineralization. *Abnormally small thorax due to collapse of the rib cage. *Reduced fetal movement. Recognition of fetal fractures and deformities. Prenatal radiographs can be used to confirm the diagnosis and differentiate between osteogenesis imperfecta lethalis and other forms of neonatal dwarfism.
D000328:Adult; D005260:Female; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography