Thanatophoric dwarfism is the most common form of lethal skeletal dysplasia and accounts for one of 246 perinatal deaths. The obstetric ultrasound examination is a primary diagnostic tool in the antenatal detection of thanatophoric dwarfism. Characteristic findings include thickened, shortened, and bowed extremities, a small, narrow thorax, flattened vertebral bodies with wide intervertebral disk spaces, and enlarged calvarium which may include cloverleaf skull deformity, pronounced skin thickening, and characteristic facies. In addition, polyhydramnios and nonimmune hydrops are occasionally seen with this entity. Sonographic features of this disease may allow its identification at an early fetal age. The obstetric sonographic examination, when combined with radiography, is definitive for diagnosis of thanatophoric dwarfism and can have a major impact on clinical management.
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