Thanatophoric Dwarfism

Abstract

Thanatophoric dwarfism is a short-limb dwarf condition which usually results in death shortly after birth. In the past, it has been confused with achondroplasia as has achondrogenesis, another congenital short-limb dwarf condition fatal in the newborn period. To our knowledge, these entities have not been described in the English literature as distinct conditions. This report presents the clinical and radiographic findings in thanatophoric dwarfism based on our personal experience and a review of the European literature and includes illustrations of achondrogenesis and heterozygous and homozygous achondroplasia for comparison. Case Reports Case I: B. B. B., a macerated stillborn male, was delivered on July 7, 1956, after a ten-hour labor, at approximately the seventh month of gestation. Three weeks prior to this, according to the mother, fetal movement ceased. No fetal heart sounds were heard on examination two weeks prior to delivery. There was a true knot in the cord. The placenta was grossly normal. The father was thirty-one years old, the mother twenty-eight. Both were healthy and of normal stature. There was no history of consanguinity or of dwarfism in the family. There were three normal living children, two girls and a boy; eight, four, and one year of age, respectively. The mother had had an abortion at three months of gestation in 1950 and at two and one-half months in 1953. Subsequently there was an abortion at two and one-half months in 1963. Findings at Autopsy: The weight of the infant was 2 lb. 13.5 oz. (1,006 g). The body length was 37 cm. The extremities were extremely short and protruded laterally from the body. The head appeared large, due in part to severe edema of the scalp. The sutures of the skull were relaxed so that it flattened with its own weight lying on the tabletop. There was depression of the nasal bridge, giving a saddle-nose configuration. The infant showed extreme maceration with slough of the skin. The peritoneal cavity was filled with hemoglobin-stained fluid, and the viscera showed evidence of autolysis. No anatomic abnormality was noted in the abdominal viscera. Pleural and pericardial cavities were normal, as was the heart. The lungs were small, fleshy, darkly discolored, and airless. The brain was a reddish-gray amorphous semiliquid mass without the gross features of normal brain anatomy. Microscopic sections were not performed. Radiographic examination will be discussed in the section on Radiographic Features. Case II: B. G. P., a female, was born Aug. 10, 1966, two weeks before the expected date. The pregnancy was complicated by bleeding in the first and second months. Hydramnios was present. The father was thirty-five years old and the mother thirty-six. Both were healthy and of normal stature. The mother had worked as an x-ray technician for fifteen years.