Clinical History.—This infant was born three weeks prematurely after an uneventful pregnancy. The birth weight was 2,350 gm (5 lb 3 oz), and his length was 36.5 cm (1 ft 2¼ inches). His parents and a 1-year-old sister are healthy. None of the family members have skeletal anomalies nor short stature.
Physical Examination.—On examination, the respirations were very poor, and he was cyanotic. There was marked dwarfism, a large head with prominent forehead, saddle nose, a relatively long trunk with a narrow chest, and very short extremities. The legs and arms were bowed, and slightly edematous. The fingers and toes were very short. He was mechanically ventilated, but adequate spontaneous respiration could not be obtained, and he died at 1½ hours of age.
Thanatophoric Dwarfism
Thanatophoric, Greek for "death bringing," dwarfism has recently been isolated by Maroteaux et al1 as a distinct entity among their patients with