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Essential Insights into Birth Defects and the "Father of Teratology"

With a new hospital and a new research foundation, Cincinnati Children's Hospital Medical Center physicians and scientists in the 1930s were ready to enter the fight to prevent diseases.

Up to this time, many children contracted acrodynia, a painful affliction that caused hair and teeth to fall out, weight loss, and sometimes death. An infection or a dietary deficiency was believed to cause the disease.

However, the Cincinnati Children's Hospital Research Foundation's Josef Warkany, MD, with the help of the University of Cincinnati's Kettering Laboratory, proved that it was due to mercury poisoning coming from teething powders, ointments, and even medications prescribed to combat the symptoms.

Dr. Warkany's discovery brought him considerable attention, but his investigations in teratology (the study of birth defects) were to result in more lasting acclaim.

In the late 1930s, Dr. Warkany and Rose Cohen Nelson began attempts to produce endemic cretinism in rats. Though they failed, they obtained a syndrome of congenital skeletal malformations that was even more interesting.

More than three years of painstaking research were needed to show that the skeletal malformations were not caused by a dietary iodine deficiency in the mother before birth, as in endemic cretinism, but instead were due to a riboflavin deficiency in the diet fed the pregnant animals.

At that time, medical scientists believed that malformations were always genetic in origin, and most were reluctant to believe that environment could have such a dramatic effect on fetal development. Today, mostly because of Dr. Warkany's pioneering work, new drugs are routinely tested for teratogenic effect and pregnant women are advised to be careful about what they eat, drink, breathe or swallow.

Dr. Warkany's contributions and comprehension of his science are the basis of a mammoth 1,300-page textbook, Congenital Malformations. He is called "the father of teratology," and in 1970 he was the first of Cincinnati Children's four researchers to receive the coveted Howland Award of the American Pediatric Society.