Ultrasonic diagnosis of thanatophoric dwarfism in utero

There are several types of short-limbed neonatal dwarfism. Before the delineation of thanatophoric dwarfism many dwarfs who died early in infancy were labeled "achondroplastic." Intrauterine radiological diagnosis is possible and the clinician may be alerted to the possibility of the condition by noting short squat limbs with a relatively large head on ultrasound examination, especially in cases of hydramnios.