A 1,960-g female infant was delivered by cesarean section to a 25-year-old epileptic mother. The mother had been receiving phenytoin (Dilantin) for the previous five years and was free of seizures. The infant was in severe respiratory distress.
Physical examination showed that the infant had multiple congenital anomalies, including an imperforate anus, ambiguous genitalia, dislocated hips, clubfeet, hypoplastic fingernails, a short neck, and a barrel-shaped thorax. Her right thigh was swollen. She had a cardiac murmur and decreased breath sounds. Chest, abdominal, and skeletal roentgenograms were obtained (Figs 1 to 3). She was given oxygen therapy, but her condition continued to deteriorate, and she died at 12 hours of age.
Denouement and Discussion
Fetal Hydantoin Syndrome
At autopsy, there was an associated rectovaginal fistula with an imperforate anus, single umbilical artery, renal agenesis with pulmonary hypoplasia, atrial septal defect, and fracture of the right femur (apparently secondary to birth trauma).
Kogutt MS, Young LW. Radiological Case of the Month. Am J Dis Child. 1984;138(4):405-406. doi:10.1001/archpedi.1984.02140420071021