Congenital malformations: from superstition to understanding

Abstract

Throughout most of human history, congenital anomalies were perceived as omens, portents, or punishments of supernatural origin. This concept is reflected in the term “monster,” probably derived from the Latin verb monstrare (to show or reveal). Other explanations for congenital abnormalities included witchcraft, astrological configurations, or emotional experiences of the pregnant mother. Malformed humans and animals also inspired many of the characters populating the literature, mythology, art, and religion of every culture. By the eighteenth century superstition still dominated public conceptions of malformations, but this topic was beginning to attract serious attention from physicians and scientists. Abnormalities such as conjoined twins were a popular subject for anatomists, who produced some superb morphological studies. However, scientific investigation of causes and mechanisms of abnormal development were delayed because of persisting support for the concept of preformation of embryos. Toward the end of the century, epigenesis finally achieved acceptance by leading scientists, opening the door to the investigation of normal and abnormal development. By the dawn of the nineteenth century, a foundation had been established for the study of abnormal development, which was destined to become one of the most productive of biomedical sciences. The ultimate mechanisms of normal and abnormal development are now explored at the molecular level, and the lives of countless individuals born with malformations have been greatly enhanced by advances in medicine and surgery. No other biomedical science provides a more colorful and instructive illustration of the long journey from superstition to understanding. The older literature in this field, in addition to its historical interest, is a source of knowledge and information of unique value for scientists and practitioners.