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Congenital Malformations

  • Colin L. Berry

Abstract

This chapter is primarily concerned with congenital abnormalities as defined by McKeown and Record (1960): “macroscopic abnormalities of structures attributable to faulty development and present at birth”. This definition excludes metabolic defects such as glycogen storage disease and the haemoglobinopathies; these abnormalities, which are caused by single genes of large effect, inherited according to Mendelian patterns, collectively account for less than 1% of human malformations and are not described in this account, although many are described elsewhere in the book. We shall consider here the larger groups of malformations and, in particular, the ways in which various epidemiological and other studies have contributed to knowledge of their pathogenesis. It should be emphasized that accurate pathological identification of malformation and malformation syndromes is an essential step in identifying aetiological factors, and one where the pathologist has a large part to play.

Keywords

Congenital Heart Disease Congenital Malformation Patent Ductus Arteriosus Spina Bifida Neural Tube Defect 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Abramovici A, Shaklai M, Pinkhas J (1978) Myeloschisis in a six weeks embryo of a leukaemic woman treated by busulphan. Teratology 18: 241PubMedCrossRefGoogle Scholar
  2. Amin-Zaki L, Elhassani S, Majeed MA, Clarkson TW, Doherty RA, Greenwood M (1974) Intrauterine methylmercury poisoning in Iraq. Pediatrics 54: 587PubMedGoogle Scholar
  3. Anonymous (1981) Imaging techniques in obstetrics. Lancet I: 923Google Scholar
  4. Anonymous (1982a) Vitamins to prevent neural tube defects. Lancet II: 1255Google Scholar
  5. Anonymous (1982b) Valproate and malformations. Lancet II: 1313Google Scholar
  6. Anonymous (1983) Alcohol and the fetus: is zero the only option? Lancet I: 682Google Scholar
  7. Bear JC (1978) The association of sex ratio anomalies with pyeloric stenosis. Teratology 17: 19PubMedCrossRefGoogle Scholar
  8. Becker MH, Genieser NB, Finegold M, Miranda D, Spackman T (1975) Chondrodysplasia punctata: is maternal warfarin therapy a factor? Am J Dis Child 129: 356PubMedGoogle Scholar
  9. Berry CL, Nickols CD (1979) The effects of aspirin on the development of the mouse third molar. A potential screening system for weak teratogens. Arch Toxicol 42: 185PubMedCrossRefGoogle Scholar
  10. Berry CL, Stuckey E (1984) The effects of high dose sporadic (binge) alcohol intake in mice. J Patho 142: 175CrossRefGoogle Scholar
  11. Blot WJ, Miller RW (1973) Mental retardation following in utero exposure to the atomic bombs of Hiroshima and Nagasaki. Radiology 106: 617PubMedGoogle Scholar
  12. Boué J, Boué A, Lazar P (1975) Retrospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 12: 11PubMedCrossRefGoogle Scholar
  13. Boué J, Phillipe E, Giroud A, Boué A (1976) Phenotypic expression of lethal chromosome anomalies in human abortuses. Teratology 14: 3PubMedCrossRefGoogle Scholar
  14. Brent RL (1977) Radiation and other physical agents. In: Wilson JG, Clarke Fraser F (eds) General principles and etiology. Plenum, New York (Handbook of teratology, vol I, p 153).Google Scholar
  15. Carter CO (1965) The inheritance of common congenital malformations. Prog Med Genet 4: 59PubMedGoogle Scholar
  16. Carter CO (1969) Genetics of common disorders. Br Med Bull 25: 52PubMedGoogle Scholar
  17. Carter CO (1976) Genetics of common single malformations. Br Med Bull 32: 21PubMedGoogle Scholar
  18. Carter CO, Evans K (1973) Spina bifida and anencephalus in Greater London. J Med Genet 10: 209PubMedCrossRefGoogle Scholar
  19. Carter CO, Wilkinson JA (1964) Genetic and environmental factors in the aetiology of congenital dislocation of the hip. Clin Ortho p 33: 119Google Scholar
  20. Carter CO, David PA, Laurence KM (1968) A family study of major central nervous system malformations in South Wales. J Med Genet 5: 81PubMedCrossRefGoogle Scholar
  21. Ching GHS, Chung CS (1974) A genetic study of cleft lip and palate in Hawaii. I. Interracial crosses. Am J Hum Genet 26: 162PubMedGoogle Scholar
  22. Ching GHS, Chung CS, Nemechek RW (1969) Genetic and epidemiological studies of clubfoot in Hawaii: ascertainment and incidence. Am J Hum Genet 21: 566PubMedGoogle Scholar
  23. Chung CS, Myrianthopolus NC (1968) Racial and prenatal factors in major congenital malformations. Am J Hum Genet 20: 44PubMedGoogle Scholar
  24. Clarren SK, Alvord EC, Sumi SM (1978) Brain malformations related to prenatal exposure to ethanol. J Pediatr 92: 64PubMedCrossRefGoogle Scholar
  25. Conley FK, Jenkins Kay A, Remington JS (1981) Toxoplasma gondii infection of the central nervous system. Use of the peroxidase-antiperoxidase method to demonstrate Toxoplasma in formalin fixed, paraffin embedded tissue sections. Hum Pathol 12: 690PubMedCrossRefGoogle Scholar
  26. Connors TA (1975) Cytotoxic agents in teratogenic research. In: Berry CL, Poswillo DE, (eds) Teratology: trends and applications. Springer, Berlin Heidelberg New York, p 49Google Scholar
  27. Corbett TH, Cornell RG, Endres JL, Weding K (1974) Birth defects among children of nurse-anesthetists. Anesthesiology 41: 341PubMedCrossRefGoogle Scholar
  28. Di Saia J (1966) Pregnancy and delivery of a patient with a Starr-Edwards mitral valve prosthesis. Report of a case. Obstet Gynecol 28: 469Google Scholar
  29. Dodge JA (1971) Abnormal distribution of ABO blood groups in infantile pyloric stenosis. J Med Genet 8: 468PubMedCrossRefGoogle Scholar
  30. Dodge JA (1973) Infantile pyloric stenosis. Inheritance, psyche and soma. Ir J Med Sci 142: 6PubMedCrossRefGoogle Scholar
  31. Driscoll SG (1969) Histopathology of gestational rubella. Am J Dis Child 118: 49PubMedGoogle Scholar
  32. Dudgeon JA (1976) Infective causes of human malformations. Br Med Bull 32: 77PubMedGoogle Scholar
  33. Dunn PM (1976) Congenital postural deformities. Br Med Bull 32: 71PubMedGoogle Scholar
  34. Edwards JH (1958) Congenital malformations of the central nervous system in Scotland. Br J Prev Soc Med 12: 115PubMedGoogle Scholar
  35. Edwards JH (1969) Familial predisposition in man. Br Med Bull 25: 58PubMedGoogle Scholar
  36. Edwards MJ, Wanner RA (1977) Extremes of temperature. In: Wilson JG, Clarke Fraser F (eds) General principles and etiology, Plenum, New York (Handbook of teratology, vol I, p 421)Google Scholar
  37. English D, Bower C (1983) Alcohol consumption, pregnancy, and low birth weight. Lancet I: 1111CrossRefGoogle Scholar
  38. Falconer DS (1965) The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann Hum Genet 29: 51CrossRefGoogle Scholar
  39. Fedrick J (1976) Anencephalus in Scotland 1961–1972. Br J Prev Soc Med 30: 132PubMedGoogle Scholar
  40. Fedrick J, Alberman ED, Goldstein H (1971) Possible teratogenic effect of cigarette smoking. Nature 231: 529CrossRefGoogle Scholar
  41. Fergusson-Smith MA, Yates JRW (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52,965 amniocenteses. Prenat Diagnosis 4: 5CrossRefGoogle Scholar
  42. Fielding JE (1978) Smoking and pregnancy. New Engl J Med 298: 337PubMedCrossRefGoogle Scholar
  43. Fiumara NJ, Flemming WL, Downing JG, Good FL (1952) The incidence of prenatal syphilis at the Boston City Hospital. New Engl J Med 247: 48PubMedCrossRefGoogle Scholar
  44. Fraser FC, Pashayan H (1970) Relation of face shape to susceptibility to congenital cleft lip. A preliminary case report. J Med Genet 7: 112PubMedCrossRefGoogle Scholar
  45. Gilbert EF, Opitz JM (1982) Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Perspect Pediatr Pathol 7: 1PubMedGoogle Scholar
  46. Goldman AS, Yaffe SJ (1978) Fetal trimethadione syndrome. Teratology 17: 103PubMedCrossRefGoogle Scholar
  47. Gropp A (1973) Fetal mortality due to aneuploidy and irregular meiotic segregation in the mouse. In: Boué A, Thibault C (eds) Les accidents chromosomiques de la reproduction. INSERM, Paris, p 255Google Scholar
  48. Hall Judith G, Pauli RM, Wilson Kathleen M (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68: 122CrossRefGoogle Scholar
  49. Halliday H, Reid MMc, McClure G (1982) Results of heavy drinking in pregnancy. Br J Obstet Gynaecol 89: 892PubMedCrossRefGoogle Scholar
  50. Hanson JWM (1976) Fetal hydantoin syndrome. Teratology 13: 185CrossRefGoogle Scholar
  51. Hay S, Barbano SH (1972) Independent effects of maternal age and birth order on the incidence of selected congenital malformations. Teratology 6: 271PubMedCrossRefGoogle Scholar
  52. Hay S, Wehring DA (1970) Congenital malformations in twins. Am J Hum Genet 22: 622Google Scholar
  53. Holt SB (1961) Quantitative genetics of finger-print patterns. Br Med Bull 17(3): 247PubMedGoogle Scholar
  54. Holzgreve W, Garey JC, Hall BD (1976) Warfarin-induced fetal abnormalities. Lancet II: 914CrossRefGoogle Scholar
  55. Janz D, Fuchs U (1964) Sind antiepileptische Medikamente während der Schwangerschaft schädlich? Dtsch Med Wochenschr 89: 241PubMedCrossRefGoogle Scholar
  56. Jones KL, Smith DW, Ulleland CB, Streissguth AP (1973) Pattern of malformation in offspring of chronic alcoholic mothers. Lancet I: 1267CrossRefGoogle Scholar
  57. Kajii T, Chama K, Nukawa N, Ferrier A, Avirachan S (1973) Banding analysis of chromosomal karyotpyes in spontaneous abortion. Am J Hum Genet 25: 539PubMedGoogle Scholar
  58. Kassis I, Sunderji S, Abdul-Karim R (1985) Isotretinoin (Accutane) and pregnancy. Teratology 32: 145PubMedCrossRefGoogle Scholar
  59. Kenna AP, Smithells RW, Fielding DW (1975) Congenital heart disease in Liverpool 1960–1969. Q J Med 44 (173) 17PubMedGoogle Scholar
  60. Kerber IJ, Warr OS, Richardson CJ (1968) Pregnancy in a patient with a prosthetic mitral valve. Association with a fetal anomaly attributed to warfarin sodium. JAMA 203: 223PubMedCrossRefGoogle Scholar
  61. King DJ, Ratcliffe MA, Dawson AA, Bennett JE, Klopper AL (1985) Fertility in young men and women after treatment for lymphoma: a study of a population. J Clin Pathol 38: 1247PubMedCrossRefGoogle Scholar
  62. Klein J, Stein Z (1985) Very early pregnancy. In: Dixon R (ed) Reproductive toxicology. Raven, New York, p 251Google Scholar
  63. Knox G, Braithwaite F (1962) Cleft lip and palates in Northumberland and Durham. Arch Dis Child 38: 66CrossRefGoogle Scholar
  64. Krick JA, Remington JS (1978) Toxoplasmosis in the adult, an overview. JAMA 298: 550Google Scholar
  65. Kurisu K, Niswander JD, Johnston MC, Maxaheri M (1974) Facial morphology as an indicator of genetic predisposition to cleft lip and palate. Am J Hum Genet 26: 703Google Scholar
  66. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW, Lott IT, Richard JM, Sun SC (1985) Retinoicacid embryopathy. N Engl J Med 313: 837PubMedCrossRefGoogle Scholar
  67. Laurence KM (1963) Hypertrophic pyloric stenosis. Lancet I: 224CrossRefGoogle Scholar
  68. Leck I (1972) The etiology of human malformations. Insights from epidemiology. Teratology 5: 303PubMedCrossRefGoogle Scholar
  69. Leck I (1974) Causation of neural tube defects: clues from epidemiology. Br Med Bull 30: 158PubMedGoogle Scholar
  70. Leck I (1976) Descriptive epidemiology of common malformations (excluding central nervous system defects). Br Med Bull 32: 45PubMedGoogle Scholar
  71. Leck I (1978) Maternal hyperthermia and anencephaly. Lancet I: 671CrossRefGoogle Scholar
  72. Lemoine P, Harousseau H, Borteyni JP (1968) Les enfants de parents alcoholiques: anomalies observées. Quest Med 25: 476Google Scholar
  73. Like A, Orci L (1972) Embryogenesis of the human pancreatic islets. A light and electronmicroscopic study. Diabetes 21: 511PubMedGoogle Scholar
  74. Lilienfeld AM (1969) Population differences in frequency of malformation at birth. In: Fraser FC, McKusick VA (eds) Congenital malformations. Proceedings of the Third International Congress. Exerpta Medica, Amsterdam, p 251Google Scholar
  75. Lloyd-Davies RW (1963) Hypertrophic pyloric stenosis. Lancet I: 110CrossRefGoogle Scholar
  76. Lowe CR (1972) Congenital malformations and the problems of their control. Br Med J 3: 515PubMedCrossRefGoogle Scholar
  77. Machin GA (1974) Chromosome abnormality and perinatal death. Lancet I: 594Google Scholar
  78. Mastroiacovo P, Bertollini R, Morandini S, Segni G (1983) Maternal epilepsy, valproate exposure, and birth defects. Lancet II: 1499CrossRefGoogle Scholar
  79. Matsumoto H, Koya G, Takeuchi T (1965) Fetal minamata disease. A neuropathological study of two cases of intrauterine intoxication by a methylmercury compound. J Neuropathol Exp Neurol 24: 563PubMedCrossRefGoogle Scholar
  80. McKeown T, Record RC (1960) Malformations in a population observed for five years after birth. In: Wolstenholme GEW, O’Connor CM (eds) Ciba Foundation Symposium on Congenital Malformations. Churchill, London, p 2Google Scholar
  81. Meadow SR (1968) Anticonvulsant drugs and congenital abnormalities. Lancet II: 1296CrossRefGoogle Scholar
  82. Meyer MB, Jonas BS, Tonascia JA (1976) Perinatal events associated with maternal smoking during pregnancy. Am J Epidemiol 103: 464PubMedGoogle Scholar
  83. Miller Em, Cradock-Wilson JE, Pollock TM (1982) Consequences of confirmed maternal rubella at successive stages of pregnancy. Lancet II: 781CrossRefGoogle Scholar
  84. Miller P, Smith DW, Shepard TH (1978) Maternal hyperthermia as a possible cause of anencephaly. Lancet I: 519CrossRefGoogle Scholar
  85. Mills JL, Baker L, Goldman AS (1979) Malformations in the children of diabetic mothers occur before the seventh gestational week. Diabetes 28: 292PubMedCrossRefGoogle Scholar
  86. Mitchell SC, Sellman AH, Westphal MC, Park J (1971) Etiologic correlates in a study of congenital heart disease in 56, 109 births. Am J Cardiol 28: 653PubMedCrossRefGoogle Scholar
  87. Murphy DP (1929) The outcome of 625 pregnancies in women subjected to pelvic radium or roentgen irradiation. Am J Obstet Gynecol 18: 179Google Scholar
  88. Naggan L (1971) Anencephaly and spina bifida in Israel. Pediatrics 47: 577PubMedGoogle Scholar
  89. Neel JV (1974) A note on congenital defects in two unacculturated Indian tribes. In: Janerick DT, Skalko RG, Porter IH (eds) Congenital defects, new directions in research. Academic, New York, p 3Google Scholar
  90. Newman CGH (1985) Clinical aspects of Thalidomide embryopathy — a continuing preoccupation. Teratology 32: 133PubMedCrossRefGoogle Scholar
  91. Nishimura H (1970) Incidence of malformations in abortions. In: Fraser FC, McKusick A (eds) Congenital malformations. Proceedings of the Third International Congress. Exerpta Medica, Amsterdam, p 275Google Scholar
  92. Ontario Perinatal Study Committee (1967) Second report of the perinatal mortality study in ten university teaching hospitals, vol I. Ontario Department of Health, TorontoGoogle Scholar
  93. Owens JR, McAllister E, Harris F, West L (1981) 19 Year incidence of neural tube defects in an area under constant surveillance. Lancet II: 1032CrossRefGoogle Scholar
  94. Pedersen JF, Molsted-Pedersen L (1981) Early fetal growth delay detected by ultrasound marks increased risk of congenital malformation in diabetic pregnancy. Br Med J 269Google Scholar
  95. Peñaloza D, Arias-Stella J, Sime F, Recavarren S, Marticorena E, (1964) The heart and pulmonary circulation in children at high altitudes: physiological, anatomical and clinical observations. Pediatrics 34: 568PubMedGoogle Scholar
  96. Powell BW (1962) Hypertrophic pyloric stenosis. Lancet II: 1326CrossRefGoogle Scholar
  97. Quibell EP (1981) The thalidomide embryopathy. Practioner 225: 721Google Scholar
  98. Rawles WE, Desmyter J, Melnick JL (1968) Serological diagnosis and fetal involvement in maternal rubella. Criteria for abortions. JAMA 203: 627CrossRefGoogle Scholar
  99. Remington JS, Klein JO (1983) Infectious diseases of the fetus and newborn infant. Saunders, PhiladelphiaGoogle Scholar
  100. Richards IDG, Roberts CJ, Lloyd S (1972) Dolichol phosphates as acceptors of manrose from guanosine diphosphate manrose in liver systems. Br J Prev Soc Med 26: 89PubMedGoogle Scholar
  101. Roberts CJ, Lowe CR (1975) Where have all the conceptions gone? Lancet I: 498CrossRefGoogle Scholar
  102. Rogers SC, Morris M (1973) Anencephalus: a changing sex ratio. Br J Prev Soc Med 27: 81PubMedGoogle Scholar
  103. Rosa FW (1986) Teratogen update: Penicillamine. Teratology 33: 127PubMedCrossRefGoogle Scholar
  104. Saxen I (1975) Epidemiology of cleft lip and palate. An attempt to rule out chance correlations. Br J Prev Soc Med 29: 103PubMedGoogle Scholar
  105. Select Committee on Drunkenness (1834) Report on drunkenness presented to the House of CommonsGoogle Scholar
  106. Senturia YD, Peckham CS, Peckham MJ (1985) Children fathered by men treated for testicular cancer. Lancet II: 766CrossRefGoogle Scholar
  107. Sidle N (1982) Smoking and pregnancy — a review. The Spastics Society, LondonGoogle Scholar
  108. Simpson WJA (1957) A preliminary report on cigarette smoking and the incidence of prematurity. Am J Obstet Gynecol 73: 808Google Scholar
  109. Singer DB, Rudolph AJ, Rosenberg HS, Rawles WE, Noniuk M (1967) Pathology of the congenital rubella syndrome. J Pediatr 71: 665PubMedCrossRefGoogle Scholar
  110. Smithells RW (1973) Defects and disabilities of thalidomide children. Br Med J I: 269CrossRefGoogle Scholar
  111. Smithells RW (1976) Environmental teratogens of man. Br Med Bull 32: 27PubMedGoogle Scholar
  112. Smithells RW, Sheppard S (1978) Teratogenicity testing in humans. A method demonstrating safety of Bendectin. Teratology 17: 31PubMedCrossRefGoogle Scholar
  113. Smithells RW, Sheppard S, Schorah CJ, Seller MJ, Nevin CN, Harris R, Read AP, Fielding DW (1981) Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child 56: 911PubMedCrossRefGoogle Scholar
  114. South MA, Tompkins WAF, Morris CR, Rawles WE (1969) Congenital malformation of the central nervous system associated with genital type (type 2) herpesvirus. J Pediatr 75: 13PubMedCrossRefGoogle Scholar
  115. Speidel BD, Meadow SR (1974) Epilepsy, anticonvulsants and congenital malformations, Drugs 8: 354PubMedCrossRefGoogle Scholar
  116. Stephenson JBP (1976) Epilepsy: a neurological complication of thalidomide embryopathy. Dev Med Child Neurol 18: 189PubMedCrossRefGoogle Scholar
  117. Strickler SM, Miller MA, Andermann E, Dansky LV, Seni M-H, Spielberg SP (1985) Genetic predisposition to phenytoin-induced birth defects. Lancet II: 746CrossRefGoogle Scholar
  118. Terrible V, Pertile G (1975) Congenital heart disease risk during pregnancy. Lancet II: 1981Google Scholar
  119. Therkelson AJ, Grunnet N, Hjort T, Myhre O, Jensen J, Jonasson J, Lauritson JG, Lindsten B, Petersen B (1974) Studies on spontaneous abortions. In: Boué A, Thibault C (eds) Chromosomal errors in relation to reproductive failure. Institut National de la Santé et de la Recherche Médicale, ParisGoogle Scholar
  120. Thiersch JB (1952) Therapeutic abortions with a folic acid antagonist, 4-aminopterolyglutamic acid (4-amino-PGA). Am J Obstet Gynecol 63: 1298PubMedGoogle Scholar
  121. Warburton D, Stein Z, Kline J, Susser M (1980) Chromosomal abnormalities in spontaneous abortions: data from the New York study. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic, New York, p 261Google Scholar
  122. Warkany J (1976) Warfarin embryopathology. Teratology 14: 205PubMedCrossRefGoogle Scholar
  123. WHO Scientific Group (1981) WHO Technical Report Series No. 657. World Health Organization, GenevaGoogle Scholar
  124. Wiseman RA, Dodds-Smith IC (1984) Cardiovascular birth defects and antenatal exposure to female sex hormones: a re-evaluation of some base data. Teratology 30: 359PubMedCrossRefGoogle Scholar
  125. Witschi E (1969) Teratogenic effects from overripeness of the egg. In: Fraser FC, McKusick A (eds) Congenital malformations. Proceedings of the Third International Conference. Exerpta Medica. Amsterdam, p 157Google Scholar
  126. Woolf CM (1971) Congenital cleft lip. A genetic study of 496 propositi. J Med Genet 8: 65PubMedCrossRefGoogle Scholar
  127. Wynne-Davies R (1964) Family studies and the cause of congenital club foot. Talipes equinovarus, talipes calcaneovalgus and metatarsus varus. J Bone Joint Surg [Br] 46: 445Google Scholar
  128. Wynne-Davies R (1970a) A family study of neonatal and late-diagnosis congenital dislocation of the hip. J Med Genet 7: 315PubMedCrossRefGoogle Scholar
  129. Wynne-Davies R (1970b) Acetabular dysplasia and familial joint laxity: two etiological factors in congenital dislocation of the hip. A review of 589 patients and their families. J Bone Joint Surg [Br] 52: 704Google Scholar
  130. Yerushalmy J (1970) The California Child Health and Development Studies. Study design and some illustrative findings on congenital heart disease. In: Fraser FC, McKusick A (eds) Congenital malformations. Proceedings of the Third International Conference. Exerpta Medica, Amsterdam, p 199Google Scholar

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  • Colin L. Berry

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