Whither Birth Defects?

WHITHER BIRTH DEFECTS? NORMAN KRETCHMER, M.D., Ph.D.* ... I, that am curtail'd ofthis fine proportion, Cheated offeature by dissembling nature, Deform'd, unfinish'd, sent before my time Into this breathing world, scarce halfmade up. And that so lamely and unfashionable That dogs bark at me, as I halt by them; What, I, in this weak piping time ofpeace, Have no delight to pass away the time, Unless to see my shadow in the sun And descant on mine own deformity. . . . Richard III (Act I, Scene i) Some years ago, in 1958, when the National Foundation chose to mobilize its resources against major national health problems, birth defects were identified as the most serious. An estimated 250,000 children ofour present population are so afflicted. The National Foundation realized that this number was an approximation and that more precise diagnosis could unearth many more patients. Its decision to foster research on birth defects encompassed not only a major medical and public health problem but also pinpointed the most important and fundamental question in biology— differentiation. The Foundation acknowledged responsibility to the afflicted by establishing model clinical centers for comprehensive care ofpatients and training ofphysicians from many different specialties in the most pro- * Stanford University School ofMedicine, Department ofPediatrics, Palo Alto, California. This discussion was presented in part at a meeting ofthe Medical Advisory Board ofthe National Foundation held at Miami Beach, Florida, in April, 1964. Some of the information referred to here was supported in part by grants from the Hartford Foundation, the National Institute ofChild Health and Human Development, National Institutes of Health (jfHD-00391 and #9Ti-HD-49-04), and the Lt.J. P. Kennedy,Jr., Laboratories for Molecular Medicine. 15 ficient approach to the myriad ofproblems. Its eminent success in using this combined attack on the problem ofpoliomyelitis is a historical fact. I am in the embarrassing position of attempting to evaluate a strategic campaign before a group ofoutstanding generals when I have been relegated to the position ofreading newspapers and drawing imagined combat lines on maps while safely ensconced in an easy chair far from battle. The question I have asked—whither birth defects?—I intend to grapple with from the prejudiced viewpoint ofa pediatrician-biochemist. The Babylonians derived prophecies from birth defects. Stone tablets dating back to 1700 b.c. recorded sixty-two such omens [1]. I have selected a few [2] which bear particular resemblance to problems still encountered . For example: When a woman gives birth to an infant— that has a bird's beak, the country will be peaceful [Fig. 1]; that has no fingers, the town will have no births . . . [Fig. 2] ; that has no right nostril, the people ofthe world will be injured [Fig. 3]; whose hands and feet are like four fishes tails (fins) the master (king) shall perish(?) and his country shall be consumed [Fig. 4]; that has six toes on each foot, the people ofthe world will be injured (calamity to the troops) [Fig. 5]; that has no well marked sex, calamity and affliction will seize upon the land; the master ofthe house will have no happiness [Fig. 6]. In the Hippocratic writings there are many references to congenital malformations , such as fetal dropsy, amniotic bands, and congenital dislocations . Throughout the centuries individuals with congenital malformations have played significant roles in many arenas. In the courtthey eventually replaced thejester, became political advisers and close associates ofthe ruler. Velasquez portrayed the achondroplastic dwarf; Victor Hugo, the individual with scoliosis. Art, literature, and sculpture have constantly attributed to malformed individuals psychotic behavior or roles ofextreme importance or magicalpower, orthe defecthas been given symbolic meaning as in some current modern novels [3.4]· The tragedy of congenital malformations is as old as history. What is new is that individuals with malformations can no longer be considered horrendous or monstrous or endowed with magical importance. As will become apparent later, although birth defects are qualitatively not much different now compared with centuries ago, they are quantitatively related to improvement ofmedical care in our modern society. 16 Norman Kretchmer · Whither Birth Defects? Perspectives in Biology and Medicine · Autumn 1964 Fig. i.—. . . that has a bird's beak, the country will be...