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CAUSES OF CONGENITAL DEFECTS: A Review

CAUSES OF CONGENITAL DEFECTS: A Review Abstract THEORIES OF CAUSATION OF CONGENITAL DEFECTS IN HUMAN BEINGS WHAT CAUSES congenital defects? Interest in this problem increases as the control of bacteriological and nutritional sources of ill-health continues to improve and as the congenitally defective group makes a proportionately greater contribution to the infant mortality and morbidity rates.1 Yet there is probably no pediatric field in which more widely divergent views are held. This paper will discuss some of these opinions and review briefly the rapidly growing body of literature on experimentally produced congenital defects in mammals.1. Defects with Genetic Causation.—"Hereditary" defects are defined as "those determined by factors transmitted through the germ cells," while "congenital" defects are defined as "those present at birth." Obviously, congenital defects are not necessarily hereditary, and hereditary abnormalities are not necessarily congenital. The terms "hereditary" and "genetic" are used synonymously.It is well established that in some families some congenital References 1. Miller, H. C.: Pediatrics 5:320, 1950. 2. Bickers, D. S., and Adams, R. D.: Brain 72:246, 1949.Crossref 3. Saebø, J.: Brit. J. Ophth. 33:601, 1949.Crossref 4. Straith, C. L., and Patton, H. S.: Bilateral Congenital Mucous Cysts in 3 Generations , J. A. M. A. 123:693 ( (Nov. 13) ) 1943.Crossref 5. Test, A. R., and Falls, H. F.: J. Oral Surg. 5:292, 1947. 6. Soule, A. B., Jr.: J. Bone & Joint Surg. 28:81, 1946. 7. Stiles, K. A., and Pickard, I. S.: J. Hered. 34:341, 1943. 8. Lewis, T.: Treasury Hum. Inher. 1:6, 1909. 9. Böök, J. A.: Hereditas 36:161, 1950. 10. Corrigan, C., and Segal, S.: Canad. M. A. J. 62:535, 1950. 11. Kemp, T.: Heredity 1:259, 1947. 12. Macklin, M. T.: Am. J. Obst. & Gynec. 32:258, 1936. 13. Murphy, D. P.: Congenital Malformations , ed. 2, Philadelphia, J. B. Lippincott Company, 1947. 14. Grüneberg, H.: (a) Rev. Suisse de Zool. ( (supp. 1) ) 57:129, 1950 15. The Genetics of the Mouse , London, Cambridge University Press, 1943; 16. Animal Genetics and Medicine , London, Hamish Hamilton Medical Books, 1947. 17. Gruenwald, P.: Mechanisms of Abnormal Development , Arch. Path. 44:398 ( (Oct.) ); 495 (Nov.); 648 (Dec.) 1947. 18. Robertson, G. G.: J. Exper. Zool. 89:197, 1942. 19. Gluecksohn-Schoenheimer, S., and Dunn, L. C.: Anat. Rec. 92:201, 1945. 20. Schoenheimer, S.: Growth 9:163, 1949. 21. Warkany, J.: Am. J. Ment. Deficiency 50:231, 1945. 22. Warkany, J.; Roth, C. B., and Wilson, J. G.: Pediatrics 3:462, 1948. 23. Gregg, N. M.: Tr. Ophth. Soc. Australia 3:35, 1942. 24. Swan, C.; Tostevin, A. L., and Black, G. H. B.: M. J. Australia 2:889, 1946. 25. Levinson, E. D.: McGill M. J. 18:183, 1949. 26. Ingalls, T.: New England J. Med. 243:67, 1950.Crossref 27. Miller.1 28. Landtman, B.: Arch. Dis. Childhood 23:237, 1948.Crossref 29. Stevenson, S. S.; Worcester, J., and Rice, R. G.: Pediatrics 6:37 and 208, 1950. 30. Warkany, J.: Etiology of Congenital Malformations , in Advances in Pediatrics , New York, Interscience Publishers, Inc., 1947, Vol. 2, p. 1. 31. Ingalls, T. H.: Etiology of Mongolism , Am. J. Dis. Child. 74:147 ( (Aug.) ) 1947.Crossref 32. Murphy, D. P.: Surg.. Gynec. & Obst. 48:766, 1929. 33. Greenhill, J. P.: Am. J. Obst. & Gynec. 37:624, 1939. 34. Mall, F. P.: Am. J. Anat. 22:49, 1917. 35. Mall, F. P.: J. Morphol. 19:1, 1908. 36. Hertig, A. T., in discussion on Warkany, J.: Obst. & Gynec. Surv. 3:693, 1948. 37. Fogh-Anderson, P.: Inheritance of Harelip and Cleft Palate , Copenhagen, Arnold Busck, 1942. 38. Böök, J. A.: Hereditas 34:289, 1948. 39. Böök, J. A., and Rayner, S.: Am. J. Hum. Gen. 2:61, 1950. 40. Kalmus, H.: Ann. Eugenics 13:146, 1946. 41. Snyder, L. H.; Schonfeld, M. D., and Offerman, E. M.: J. Hered. 36:9, 1945. 42. Böök, J. A.; Grubb, R.; Engleson, G., and Larson, C. A.: Am. J. Hum. Gen. 1:66, 1949. 43. Warner, R.: Mongolism in One of Twins and in Another Sibling . Am. J. Dis. Child. 78:573 ( (Oct.) ) 1949. 44. Powell, B. W., and Carter, C. O.: Arch. Dis. Childhood 26:45, 1951. 45. Warkany.18d 46. Hurwitz, D., and Irving, F. C.: Am. J. M. Sc. 194:85, 1937. 47. Joslin, E. P.; Root, H. F.; White, P., and Marble, A.: The Treatment of Diabetes Mellitus , ed. 7, Philadelphia, Lea & Febiger, 1940. 48. Miller, H. C.: J. Pediat. 29:455, 1946. 49. Penrose, L. S.: Ann. Eugenics 6:108, 1934.Crossref 50. McKeown, T., and Record, R. C.: Lancet 1:192, 1951.Crossref 51. Gruenwald.13d 52. Needham, J.: Biochemistry and Morphogenesis , London, Macmillan Company, Cambridge University Press, 1942. 53. Schoenheimer.13g 54. Needham.35b 55. Waddington, C. H.: Organizers and Genes , London, Cambridge University Press, 1940; 56. Growth , in Symposium of the Society for Experimental Biology , No. 2, London, Academic Press, Inc., 1948, p. 145. 57. Warkany. 58. Burke, B. S.; Beal, V. A.; Kirkwood, S. B., and Stuart, H. C.: Am. J. Obst. & Gynec. 46:38, 1943. 59. Burke, B. S., and Stuart, H. C.: Nutritional Requirements During Pregnancy and Lactation , J. A. M. A. 137:119 ( (May 8) ) 1948. 60. Parsons, L. G.: Canad. M. A. J. 55:327, 1946. 61. Huggett, A. St. G.: Brit. Med. Bull. 4:196, 1946. 62. Warkany, J.: (f) Vitamins & Hormones 3:73, 1945; 63. Obst. & Gynec. Surv. 3:693, 1948. 64. Burke, B. S.; Stevenson, S. S.; Worcester, J., and Stuart, H. C.: J. Nutrition 38:453, 1949. 65. Hale, F.: J. Hered. 24:105, 1933; 66. Am. J. Ophth. 18:1087, 1935. 67. Warkany, J., and Nelson, R. C.: Science 92:383, 1940. 68. Warkany, J.; Nelson, R. C., and Schraffenberger, E.: J. Bone & Joint Surg. 25:261, 1943. 69. Warkany, J., and Roth, C. B.: J. Nutrition 35:1, 1948. 70. Warkany, J.; Nelson, R. C., and Schraffenberg, E.: Congenital Malformations Induced in Rats by Maternal Nutritional Deficiency , Am. J. Dis. Child. 65:882 ( (June) ) 1943. 71. Warkany, J., and Schraffenberger, E.: Congenital Malformations Induced in Rats by Maternal Vitamin A Deficiency: Defects of Eye , Arch. Ophth. 35:150 ( (Feb.) ) 1946. 72. Wilson, J. G., and Warkany, J.: Am. J. Anat. 83:357, 1948. 73. Wilson, J. G., and Warkany, J.: Am. J. Anat. 85:113, 1949; 74. Pediatrics 5:708, 1950. 75. Mason, K. E.: Am. J. Anat. 57:303, 1935. 76. Andersen, D. H.: Am. J. Path. 25:163, 1949. 77. Warkany, J.: J. Pediat. 25:476, 1944.Crossref 78. Warkany, J., and Schraffenberger, E.: J. Nutrition 27:477, 1944. 79. Giroud, A., and Boisselot, J.: Arch. franç. pédiat. 4:317, 1947 80. Rev. de stomatol. 49:377, 1948. 81. Giroud, A.; Ettori. J.; Levy, G., and Boisselot, J.: Internat. Ztschr. Vitaminforsch. 21:261, 1949. 82. Giroud, A.: Levy, G., and Lefebvres-Boisselot. J.: Internat. Ztschr. Vitaminforsch. 22:308, 1950. 83. Boisselot, J.: Compt. rend. Soc. biol. 142:928, 1948 84. Arch. franç. pédiat. 6:225, 1949. 85. Richardson, L. R., and Hogan, A. G.: J. Nutrition 32:459, 1946. 86. Richardson, L. R., and DeMottier, J.: Science 106:644, 1947.Crossref 87. Richardson, L. R.: Proc. Soc. Exper. Biol. & Med. 76:142, 1951. 88. Russell, L. B.: J. Exper. Zool. 114:545, 1950. 89. Hicks, S. P.: Proc. Soc. Exper. Biol. & Med. 75:485, 1950. 90. Warkany, J.. and Schraffenberger, E.: Am. J. Roentgenol. 57:455, 1947. 91. Ingalls, T. H.; Curley, F. J., and Prindle, R. A.: Anoxia as a Cause of Fetal Death and Congenital Defect in the Mouse , Am. J. Dis. Child. 80:34 ( (July) ) 1950. 92. Gillman, J.; Gilbert, C., and Gillman, T.: South African J. M. Sc. 13:46, 1948. 93. Fraser, F. C., and Fainstat, T. D.: Pediatrics, to be published. 94. Haskin, D.: Anat. Rec. 102:493, 1948. 95. White, M. R.: Anat. Rec. 99:397, 1947. 96. Greene, R. R.; Burill, M. W., and Ivy, A. C.: Am. J. Anat. 65:415, 1939 97. Anat. Rec. 74:429, 1939.Crossref 98. Turner, C. D.: J. Morphol. 65:353, 1939.Crossref 99. Moore, C. H.: J. Clin. Endocrinol. 10:942, 1950.Crossref 100. Steiniger, F.: Ztschr. f. menschl. Vererb.- u. Konstitutionslehre 24:1, 1940. 101. Tedford, M. D., and Risley, P. L.: Anat. Rec. 108:596, 1950. 102. Selye, H.: The Physiology and Pathology of Exposure to Stress , Montreal, Acta, Incorporated, Medical Publishers, 1950. 103. Fraser and Fainstat.57 104. Baxter, H., and Fraser, F. C.: McGill M. J. 19:245, 1950. 105. Fraser, F. C.: Canad. M. A. J. 64:270, 1951. 106. Browne, J. S. L.; Johnson, L. G.; Schenker, V., and Venning, E. H., in Proceedings of the First Clinical ACTH Conference , edited by J. R. Mote, Philadelphia, The Blakiston Company, 1950, pp. 108-133. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Journal of Diseases of Children American Medical Association

CAUSES OF CONGENITAL DEFECTS: A Review

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References (19)

Publisher
American Medical Association
Copyright
Copyright © 1951 American Medical Association. All Rights Reserved.
ISSN
0096-6916
DOI
10.1001/archpedi.1951.02040040613010
Publisher site
See Article on Publisher Site

Abstract

Abstract THEORIES OF CAUSATION OF CONGENITAL DEFECTS IN HUMAN BEINGS WHAT CAUSES congenital defects? Interest in this problem increases as the control of bacteriological and nutritional sources of ill-health continues to improve and as the congenitally defective group makes a proportionately greater contribution to the infant mortality and morbidity rates.1 Yet there is probably no pediatric field in which more widely divergent views are held. This paper will discuss some of these opinions and review briefly the rapidly growing body of literature on experimentally produced congenital defects in mammals.1. Defects with Genetic Causation.—"Hereditary" defects are defined as "those determined by factors transmitted through the germ cells," while "congenital" defects are defined as "those present at birth." Obviously, congenital defects are not necessarily hereditary, and hereditary abnormalities are not necessarily congenital. The terms "hereditary" and "genetic" are used synonymously.It is well established that in some families some congenital References 1. Miller, H. C.: Pediatrics 5:320, 1950. 2. Bickers, D. S., and Adams, R. D.: Brain 72:246, 1949.Crossref 3. Saebø, J.: Brit. J. Ophth. 33:601, 1949.Crossref 4. Straith, C. L., and Patton, H. S.: Bilateral Congenital Mucous Cysts in 3 Generations , J. A. M. A. 123:693 ( (Nov. 13) ) 1943.Crossref 5. Test, A. R., and Falls, H. F.: J. Oral Surg. 5:292, 1947. 6. Soule, A. B., Jr.: J. Bone & Joint Surg. 28:81, 1946. 7. Stiles, K. A., and Pickard, I. S.: J. Hered. 34:341, 1943. 8. Lewis, T.: Treasury Hum. Inher. 1:6, 1909. 9. Böök, J. A.: Hereditas 36:161, 1950. 10. Corrigan, C., and Segal, S.: Canad. M. A. J. 62:535, 1950. 11. Kemp, T.: Heredity 1:259, 1947. 12. Macklin, M. T.: Am. J. Obst. & Gynec. 32:258, 1936. 13. Murphy, D. P.: Congenital Malformations , ed. 2, Philadelphia, J. B. Lippincott Company, 1947. 14. Grüneberg, H.: (a) Rev. Suisse de Zool. ( (supp. 1) ) 57:129, 1950 15. The Genetics of the Mouse , London, Cambridge University Press, 1943; 16. Animal Genetics and Medicine , London, Hamish Hamilton Medical Books, 1947. 17. Gruenwald, P.: Mechanisms of Abnormal Development , Arch. Path. 44:398 ( (Oct.) ); 495 (Nov.); 648 (Dec.) 1947. 18. Robertson, G. G.: J. Exper. Zool. 89:197, 1942. 19. Gluecksohn-Schoenheimer, S., and Dunn, L. C.: Anat. Rec. 92:201, 1945. 20. Schoenheimer, S.: Growth 9:163, 1949. 21. Warkany, J.: Am. J. Ment. Deficiency 50:231, 1945. 22. Warkany, J.; Roth, C. B., and Wilson, J. G.: Pediatrics 3:462, 1948. 23. Gregg, N. M.: Tr. Ophth. Soc. Australia 3:35, 1942. 24. Swan, C.; Tostevin, A. L., and Black, G. H. B.: M. J. Australia 2:889, 1946. 25. Levinson, E. D.: McGill M. J. 18:183, 1949. 26. Ingalls, T.: New England J. Med. 243:67, 1950.Crossref 27. Miller.1 28. Landtman, B.: Arch. Dis. Childhood 23:237, 1948.Crossref 29. Stevenson, S. S.; Worcester, J., and Rice, R. G.: Pediatrics 6:37 and 208, 1950. 30. Warkany, J.: Etiology of Congenital Malformations , in Advances in Pediatrics , New York, Interscience Publishers, Inc., 1947, Vol. 2, p. 1. 31. Ingalls, T. H.: Etiology of Mongolism , Am. J. Dis. Child. 74:147 ( (Aug.) ) 1947.Crossref 32. Murphy, D. P.: Surg.. Gynec. & Obst. 48:766, 1929. 33. Greenhill, J. P.: Am. J. Obst. & Gynec. 37:624, 1939. 34. Mall, F. P.: Am. J. Anat. 22:49, 1917. 35. Mall, F. P.: J. Morphol. 19:1, 1908. 36. Hertig, A. T., in discussion on Warkany, J.: Obst. & Gynec. Surv. 3:693, 1948. 37. Fogh-Anderson, P.: Inheritance of Harelip and Cleft Palate , Copenhagen, Arnold Busck, 1942. 38. Böök, J. A.: Hereditas 34:289, 1948. 39. Böök, J. A., and Rayner, S.: Am. J. Hum. Gen. 2:61, 1950. 40. Kalmus, H.: Ann. Eugenics 13:146, 1946. 41. Snyder, L. H.; Schonfeld, M. D., and Offerman, E. M.: J. Hered. 36:9, 1945. 42. Böök, J. A.; Grubb, R.; Engleson, G., and Larson, C. A.: Am. J. Hum. Gen. 1:66, 1949. 43. Warner, R.: Mongolism in One of Twins and in Another Sibling . Am. J. Dis. Child. 78:573 ( (Oct.) ) 1949. 44. Powell, B. W., and Carter, C. O.: Arch. Dis. Childhood 26:45, 1951. 45. Warkany.18d 46. Hurwitz, D., and Irving, F. C.: Am. J. M. Sc. 194:85, 1937. 47. Joslin, E. P.; Root, H. F.; White, P., and Marble, A.: The Treatment of Diabetes Mellitus , ed. 7, Philadelphia, Lea & Febiger, 1940. 48. Miller, H. C.: J. Pediat. 29:455, 1946. 49. Penrose, L. S.: Ann. Eugenics 6:108, 1934.Crossref 50. McKeown, T., and Record, R. C.: Lancet 1:192, 1951.Crossref 51. Gruenwald.13d 52. Needham, J.: Biochemistry and Morphogenesis , London, Macmillan Company, Cambridge University Press, 1942. 53. Schoenheimer.13g 54. Needham.35b 55. Waddington, C. H.: Organizers and Genes , London, Cambridge University Press, 1940; 56. Growth , in Symposium of the Society for Experimental Biology , No. 2, London, Academic Press, Inc., 1948, p. 145. 57. Warkany. 58. Burke, B. S.; Beal, V. A.; Kirkwood, S. B., and Stuart, H. C.: Am. J. Obst. & Gynec. 46:38, 1943. 59. Burke, B. S., and Stuart, H. C.: Nutritional Requirements During Pregnancy and Lactation , J. A. M. A. 137:119 ( (May 8) ) 1948. 60. Parsons, L. G.: Canad. M. A. J. 55:327, 1946. 61. Huggett, A. St. G.: Brit. Med. Bull. 4:196, 1946. 62. Warkany, J.: (f) Vitamins & Hormones 3:73, 1945; 63. Obst. & Gynec. Surv. 3:693, 1948. 64. Burke, B. S.; Stevenson, S. S.; Worcester, J., and Stuart, H. C.: J. Nutrition 38:453, 1949. 65. Hale, F.: J. Hered. 24:105, 1933; 66. Am. J. Ophth. 18:1087, 1935. 67. Warkany, J., and Nelson, R. C.: Science 92:383, 1940. 68. Warkany, J.; Nelson, R. C., and Schraffenberger, E.: J. Bone & Joint Surg. 25:261, 1943. 69. Warkany, J., and Roth, C. B.: J. Nutrition 35:1, 1948. 70. Warkany, J.; Nelson, R. C., and Schraffenberg, E.: Congenital Malformations Induced in Rats by Maternal Nutritional Deficiency , Am. J. Dis. Child. 65:882 ( (June) ) 1943. 71. Warkany, J., and Schraffenberger, E.: Congenital Malformations Induced in Rats by Maternal Vitamin A Deficiency: Defects of Eye , Arch. Ophth. 35:150 ( (Feb.) ) 1946. 72. Wilson, J. G., and Warkany, J.: Am. J. Anat. 83:357, 1948. 73. Wilson, J. G., and Warkany, J.: Am. J. Anat. 85:113, 1949; 74. Pediatrics 5:708, 1950. 75. Mason, K. E.: Am. J. Anat. 57:303, 1935. 76. Andersen, D. H.: Am. J. Path. 25:163, 1949. 77. Warkany, J.: J. Pediat. 25:476, 1944.Crossref 78. Warkany, J., and Schraffenberger, E.: J. Nutrition 27:477, 1944. 79. Giroud, A., and Boisselot, J.: Arch. franç. pédiat. 4:317, 1947 80. Rev. de stomatol. 49:377, 1948. 81. Giroud, A.; Ettori. J.; Levy, G., and Boisselot, J.: Internat. Ztschr. Vitaminforsch. 21:261, 1949. 82. Giroud, A.: Levy, G., and Lefebvres-Boisselot. J.: Internat. Ztschr. Vitaminforsch. 22:308, 1950. 83. Boisselot, J.: Compt. rend. Soc. biol. 142:928, 1948 84. Arch. franç. pédiat. 6:225, 1949. 85. Richardson, L. R., and Hogan, A. G.: J. Nutrition 32:459, 1946. 86. Richardson, L. R., and DeMottier, J.: Science 106:644, 1947.Crossref 87. Richardson, L. R.: Proc. Soc. Exper. Biol. & Med. 76:142, 1951. 88. Russell, L. B.: J. Exper. Zool. 114:545, 1950. 89. Hicks, S. P.: Proc. Soc. Exper. Biol. & Med. 75:485, 1950. 90. Warkany, J.. and Schraffenberger, E.: Am. J. Roentgenol. 57:455, 1947. 91. Ingalls, T. H.; Curley, F. J., and Prindle, R. A.: Anoxia as a Cause of Fetal Death and Congenital Defect in the Mouse , Am. J. Dis. Child. 80:34 ( (July) ) 1950. 92. Gillman, J.; Gilbert, C., and Gillman, T.: South African J. M. Sc. 13:46, 1948. 93. Fraser, F. C., and Fainstat, T. D.: Pediatrics, to be published. 94. Haskin, D.: Anat. Rec. 102:493, 1948. 95. White, M. R.: Anat. Rec. 99:397, 1947. 96. Greene, R. R.; Burill, M. W., and Ivy, A. C.: Am. J. Anat. 65:415, 1939 97. Anat. Rec. 74:429, 1939.Crossref 98. Turner, C. D.: J. Morphol. 65:353, 1939.Crossref 99. Moore, C. H.: J. Clin. Endocrinol. 10:942, 1950.Crossref 100. Steiniger, F.: Ztschr. f. menschl. Vererb.- u. Konstitutionslehre 24:1, 1940. 101. Tedford, M. D., and Risley, P. L.: Anat. Rec. 108:596, 1950. 102. Selye, H.: The Physiology and Pathology of Exposure to Stress , Montreal, Acta, Incorporated, Medical Publishers, 1950. 103. Fraser and Fainstat.57 104. Baxter, H., and Fraser, F. C.: McGill M. J. 19:245, 1950. 105. Fraser, F. C.: Canad. M. A. J. 64:270, 1951. 106. Browne, J. S. L.; Johnson, L. G.; Schenker, V., and Venning, E. H., in Proceedings of the First Clinical ACTH Conference , edited by J. R. Mote, Philadelphia, The Blakiston Company, 1950, pp. 108-133.

Journal

A.M.A. Journal of Diseases of ChildrenAmerican Medical Association

Published: Nov 1, 1951

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