Specific skeletal dysplasias in utero: sonographic diagnosis

A retrospective study was performed of 13 short-limbed fetuses with lethal skeletal dysplasias that were evaluated with ultrasound (US) from 1981 to 1984. The specific diagnoses were thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or within 2 weeks after delivery in all cases. US examination showed other associated abnormalities, including polyhydramnios, hydrops, shortened femurs, and CNS abnormalities. Radiographs confirmed these findings and provided more information regarding the shape of the limbs and thorax and the appearance of the spine. The probable diagnosis of lethal short-limbed dwarfism was made antenatally using US in eleven of the fetuses. Spinal appearance, thoracic shape, and associated hydrops and polyhydramnios were most helpful in determining the specific type of dysplasia present. Lethal short-limbed skeletal dysplasia may be diagnosed confidently in utero using US examination; however, obstetric plain film radiography may be required to determine the definitive type of dysplasia. In certain cases, US may be sufficient to make a definitive diagnosis.