Abstract
Man’s experience of congenital malformations antedates recorded history and can be inferred from philology and the most ancient of legends. Indeed, the presence of Down syndrome in the chimpanzee (McClure et al., 1969, 1970) and of various X-linked disorders in other mammals (Ohno, 1967) means that even during phylogeny man lived side by side with mammalian cousins affected with homologous forms of his own genetic aberrations. The history of teratology has been written many times and is astoundingly voluminous (Gruber, 1964). It shows that the accomplishments of the early workers in the field consisted primarily of anatomical and clinical descriptions.
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References
Adelman, H. B., 1936a, The problem of cyclopia. Part I, Q. Rev. Biol. 11:161–182.
Adelman, H. B., 1936b, The problem of cyclopia. Part II, Q. Rev. Biol. 11:284–304.
Baltzer, F., 1962, Grosse Naturforscher, Vol. 25, Theodor Boveri, Wissenschaftliche Verlagsgesellschaft, Stuttgart, 194 pp.
Barash, B. A., Freedman, L., and Opitz, J. M., 1970, Anatomic studies in the 18-trisomy syndrome, Birth Defects Orig. Artic. Ser. 6(4):3–15.
Bardeen, C. R., 1907, Development and variation of the nerves and the musculature of the inferior extremity and of the neighboring regions of the trunk in man, Am. J. Anat. 6:259–390.
Benda, C. W., 1969, Down’s Syndrome: Mongolism and Its Management, Grune & Stratton, New York, 279 pp.
Benirschke, M. H., Bogart, H. M., McClure, H. M., and Nelson-Rees, W. A., 1974, Fluorescence of the trisomie chimpanzee chromosomes, J. Med. Primatal. 3:311–314.
Bergsma, D. (ed.), 1973, Birth Defects: Atlas and Compendium, Williams & Wilkins, Baltimore, 1006 pp.
Bersu, E. T., 1976, An analysis of the anatomic variations in human trisomy based on dissections of 21- and 18-trisomies, Ph.D. thesis, University of Wisconsin, 292 pp.
Bersu, E. T., Pettersen, J. C., Charboneau, W. J., and Opitz, J. M., 1976, Studies of malformation syndromes of man. XXXIA. Anatomical studies in the Hanhart syndrome: A pathogenetic hypothesis, Eur. J. Pediatr. 122:1–17.
Blakeslee, A. F., 1922, Variation in Datura due to changes in chromosome number, Am. Nat. 56:16–31.
Boveri, T., 1901, Über die Polarität des Seeigel-Eis, Verh. Phys.-Med. Ges. Würzburg (Neue Folge) 34:145–176.
Brent, R. L., and Jensh, R. P., 1967, Intra-uterine growth retardation, in: Advances in Teratology, Vol. II (D. M. H. Woollam, ed.), pp. 139–227, Logos Press, London.
Bryant, P. J., and Hsei, B. W., 1977, Pattern formation in asymmetrical and symmetrical imaginai discs of Drosophila melanogaster, Am. Zool. 17:595–611.
Bryant, P. J., Bryant, S. V., and French, V., 1977, Biological regeneration and pattern formation, Sci. Am. 237:66–81.
Buchta, R. M., Viseskul, C., Gilbert, E. F., Sarto, G. E., and Opitz, J. M., 1973, Familial bilateral renal agenesis and hereditary renal adysplasia, Z. Kinderheilkd. 115:111–129.
Carlson, P. S., 1971, Locating gene loci with aneuploids, Mol. Gen. Genet. 114:273–280.
Centerwall, W. R., and Benirschke, K., 1975, An animal model for the XXY Klinefelter’s syndrome in man: Tortoise shell and calico male cats, Am. J. Vet. Res. 36:1275–1280.
Chase, G., Girves, J. P., and Murphy, E. A., 1977, “Normal” children, “abnormal” results, Johns Hopkins Med. J. 140:1–7.
Chu, E. H. Y., Thuline, H. C., and Norby, D. E., 1964, Triploid-diploid chimerism in a male tortoise shell cat, Cytogenetics 3:1–18.
Cohen, M. M., Jr., Jirasek, J. E., Guzman, R. T., Gorlin, R. J., and Peterson, M. Q., 1971, Holoprosencephaly and facial dysmorphia: Nosology, etiology and pathogenesis, Birth Defects Orig. Artic. Ser. 7(7): 125–135.
Colacino, S. C., 1976, An anatomical study of the 13-trisomy syndrome based on four cases, Ph.D. thesis, University of Wisconsin, 237 pp.
Copeland, D., 1977, Concepts of disease and diagnosis, Perspect. Biol. Med. 20:528–538.
Crosti, N., Serra, A., Rigo, A., and Viglino, P., 1976, Dosage effect of SOD-A gene in 21-trisomic cells, Hum. Genet. 31:197–202.
Cure, S., Boué, A., and Boué, J., 1973, Consequences of chromosomal anomalies on cell multiplication, in: Les Accidents Chromosomiques de la Ré production (A. Boué and C. Thibault, eds.), pp. 95–109, I.N.S.E.R.M., Paris.
Curran, A. J., and Curran, J. P., 1972, Associated acral and renal malformations: A new syndrome, Pediatrics 49:716–725.
Dallaire, L., Fraser, F. C., and Wiglesworth, F. W., 1971, Familial holoprosencephaly, Birth Defects Orig. Artic. Ser. 7(7): 136–142.
DeMyer, W., 1975, Median facial malformations and their implications for brain malformations, Birth Defects Orig. Artic. Ser. 11(7): 155–181.
DeMyer, W., and Baird, I., 1969, Mortality and skeletal malformations from amniocentesis and oligohydramnios in rats: Cleft palate, clubfoot, microstomia and adactyly, Teratology 2:33–38.
DeMyer, W., Zeman, W., and Palmer, C. G., 1964, The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly), Pediatrics 34:256–263.
Dieker, H., and Opitz, J. M., 1969, Associated acral and renal malformations, Birth Defects Orig. Artic. Ser. 5(3):68–77.
Drachman, D. B., 1971, The syndrome of arthrogryposis multiplex congenita, Birth Defects Orig. Artic. Ser. 7(2):90–97.
Dunn, P. M., 1976, Congenital postural deformities, Br. Med. Bull. 32:71–76.
Durkin-Stamm, M. V., Gilbert, E. F., Ganick, D. J., and Opitz, J. M., 1978, An unusual dysplasia-malformation-cancer syndrome in two patients, Am. J. Med. Genet. 1:279–290.
Edwards, J. H., Harnden, D. G., Cameron, A. H., Crosse, W. M., and Wolff, O. H., 1960, A new trisomie syndrome, Lancet 1:787–789.
Egli, F., and Stalder, G., 1973, Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies, Humangenetik 18:1–15.
Elejalde, B. R., Giraldo, C., Jimenez, R., and Gilbert, E. F., 1977, Studies of malformation syndromes of man. XLIV. Acrocephalopolydactylous dysplasia: A previously unde-scribed autosomal recessive malformation/dysplasia syndrome, Birth Defects Orig. Artic. Ser. 13(3B):53–68.
Emberger, J.-M., Marty-Double, C., Pincemin, D., and Caderas de Kerleau, J., 1976, Holoprosencéphalie par triploïdie 69,XXX chez un foetus de 5 mois, Ann. Genet. 19:191–193.
Evans, H. E., Ingalls, T. H., and Binns, W., 1966, Teratogenesis of craniofacial malformations in animals. III. Natural and experimental cephalic deformities in sheep, Arch. Environ. Health 13:706–714.
Faber, K., 1923, Nosography in Modem Internal Medicine, Paul B. Hoeber, New York, 222 pp.
Francke, U., 1978, Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p), dup(2q), dup(3p), dup(3q), Birth Defects Orig. Art. Ser. 14(6C): 191–218.
French, V., Bryant, P. J., and Bryant, S. V., 1976, Pattern regulation in epimorphic fields, Science 193:969–981.
Friedeman, E. F., and Roberts, W. C., 1966, Vitamin D and the supravalvular aortic stenosis syndrome: The transplacental effects of vitamin D on the aorta of the rabbit, Circulation 34:77–84.
Gasser, R. F., 1967, The development of the facial muscles in man, Am. J. Anat. 120:357–376.
Giblak, R. E., and McCoy, I. E., 1974, Studies on deoxyribonucleic acid polymerase from normal and Down’s syndrome skin fibroblasts in vitro, In Vitro 10:167–171.
Gilbert, J. D., 1974, A review of 151 cases of idiopathic, sporadic mental retardation with multiple congenital anomalies: Empiric recurrence risk, Research report submitted in partial fulfillment of requirements for the degree of Master of Science (Medical Genetics), University of Wisconsin, 86 pp.
Gooddy, W., 1961, Syndromes, Lancet 1:1–3.
Gropp, A., Giers, D., and Kolbus, U., 1974, Trisomy in the fetal backcross progeny of male and female metacentric heterozygotes of the mouse. I, Cytogenet. Cell Genet. 13:511–535.
Gropp, A., Kolbus, U., and Giers, D., 1975, Systematic approach to the study of trisomy in the mouse. II, Cytogenet. Cell Genet. 14:42–62.
Gropp, A., Putz, B., and Zimmerman, U., 1976, Autosomal monosomy and trisomy causing developmental failure, Curr. Top. Pathol. 62:177–192.
Gruber, G. B., 1964, Studien zur Historik der Teratologie, Zentralbl. Allg. Pathol. Pathol. Anat. 106:219–237; 293–316; 512–560.
Grüneberg, H., 1947, Animal Genetics and Medicine, Paul B. Hoeber, New York, 296 pp.
Guillery, R. W., 1974, Visual pathways in albinos, Sci. Am. 230:44–54.
Günther, H., 1948, Anomaliekomplex und Zufallssyndromie, Zentralbl. Allg. Pathol. Pathol. Anat. 84:6–16.
Hadorn, E., 1961, Developmental Genetics and Lethal Factors (translated by Ursula Mittwoch from the German version: Letalfaktoren in ihrer Bedeutung für Erbpathologie und Genphysiologie der Entwicklung), Georg Thieme, 1955, Methuen, London, 355 pp.
Hadorn, E., 1968, Transdetermination in cells, Sci. Am. 219:110–120.
Harrison, R. G., 1918, Experiments on the development of the forelimb of Amblystoma, a self-differentiating equipotential system, J. Exp. Zool. 25:413–461.
Herrmann, J., 1977a, Clinical aspects of gene expression, Birth Defects Orig. Artic. Ser. 13:(3D):25–45.
Herrmann, J., 1977b, Numerical taxonomy in clinical genetics, Birth Defects Orig. Artic. Ser. 13(3A):39–52.
Herrmann, J., and Opitz, J. M., 1969, Studies of malformation syndromes of man. X. The Lenz microphthalmia syndrome, Birth Defects Orig. Artic. Ser. 5(2): 138–143.
Herrmann, J., and Opitz, J. M., 1974, Studies of malformation syndromes of man. IB. Naming and nomenclature of syndromes, Birth Defects Orig. Artic. Ser. 10(7):69–86.
Herrmann, J., and Opitz, J. M., 1977, The SC phocomelia and the Roberts syndrome: Nosologic aspects, Eur. J. Pediatr. 125:117–134.
Herrmann, J., Pallister, P. D., Gilbert, E. F., Viseskul, C., Bersu, E., Pettersen, J. C., and Opitz, J. M., 1976, Studies of malformation syndromes of man. XXXXIB. Nosologic studies in the Hanhart and the Möbius syndrome, Eur. J. Pediatr. 122:19–56.
Herrmann, J., Gilbert, E. F., and Opitz, J. M., 1977, Dysplasias, malformations and cancer, especially with respect to the Wiedemann-Beckwith syndrome, in: Regulation of Cell Proliferation and Differentiation (W. W. Nichols and D. G. Murphy, eds.), pp. 1–64, Plenum Press, New York.
Hintz, R. L., Menking, M., and Sotos, J. F., 1968, Familial holoprosencephaly with endocrine dysgenesis, J. Pediatr. 72:81–87.
Hollinshead, W. H., 1969, Anatomy for Surgeons, 2nd ed., Vol. 3, The Back and Limbs, Harper & Row, New York, 894 pp.
Holmes, L. B., Driscoll, S., and Atkins, L., 1974, Genetic heterogeneity of cebocephaly, J. Med. Genet. 11:35–40.
Huxley, J. S., and deBeer, G. R., 1934, The Elements of Experimental Embryology, Cambridge University Press; 1963, Hafner, New York, 514 pp.
Jacobson, A., and Lodish, H. F., 1975, Genetic control of development of the cellular slime mold, Dictyostelium discoideum, Annu. Rev. Genet. 9:145–185.
James, E., and van Leeuwen, G., 1970, Familial cebocephaly: Case description and survey of the anomaly, Clin. Pediatr. 9:491–493.
Jones, M. D., Jr., and Battaglia, F. C., 1977, Intrauterine growth retardation, Am. J. Obstet. Gynecol. 127:540–549.
Kaback, M. M., and Bernstein, L. H., 1970, Biologic studies of trisomic cells growing in vitro, Ann. N. Y. Acad. Sci. 171:526–546.
Kaveggia, E. G., Durkin, M. V., Pendleton, E., and Opitz, J. M., 1975, Diagnostic/genetic studies on 1224 patients with severe mental retardation, in: Proceedings of the IIIrd International Congress of the 1ASSMD, The Hague, September 1973, pp. 82–93, Polish Medical Publishers, Warsaw.
Khush, G. S., 1973, Cytogenetics of Aneuploids, Academic Press, New York, 301 pp.
Kogoj, F., 1956, Symptomenkomplexe, Syndrome und Semisyndrome, Wien. Med. Wochenschr. 106:787–789.
Kosseff, A. L., Herrmann, J., Gilbert, E. F., Viseskul, C., Lubinsky, M., and Opitz, J. M., 1976, Studies of malformation syndromes of man. XXIX. The Wiedemann-Beckwith syndrome: Clinical, genetic and pathogenetic studies of 12 cases, Eur. J. Pediatr. 123:139–166.
Lazjuk, G. I., Lurie, I. W., and Nedzved, M. K., 1976, Further studies of the heterogeneity of cebocephaly, J. Med. Genet. 13:314–318.
LeDouble, A. F., 1897, Traité des Variations du Système Musculaire de l’Homme, Librairie C. Reinwald, Paris, 252 pp.
Leiber, B., and Olbrich, G., 1966, Die Klinischen Syndrome, 4th ed., Vol. I, Syndrome, Urban & Schwarzenberg, München.
Lejeune, J., Turpin, R., and Gautier, M., 1959, Le mongolisme, premier example d’aberration autosomique humaine, Ann. Genet. 1:41–49.
Lejeune, J., Dutrillaux, B., Rethoré, M. O., Berger, R., Debray, H., Veron, P., Gorce, F., and Grossiord, A., 1969, Sur trois cas de trisomie C., Ann. Genet. 12:28–35.
Lewis, W. H., 1909, The experimental production of cyclopia in the fish embryo (Fundulus heteroclitus). Anat. Rec. 3:175–181.
Macalister, A., 1875, Additional observations on muscular anomalies in human anatomy (third series) with a catalog of the principal muscular variations hitherto published, Trans. R. Irish Acad. 25:1–134.
Mackler, B., Haynes, B., Inamdar, A. R., Pedegana, L. R., Hall, J. G., and Cohen, M. M., Jr., 1973, Oxidative energy deficiency. II. Human achondroplasia, Arch. Biochem. Biophys. 159:885–888.
McClure, H. M., Beiden, K. H., and Pieper, W. A., 1969, Autosomal trisomy in a chimpanzee: Resemblance to Down’s syndrome, Science 165:1010–1011.
McClure, H. M., Pieper, W. A., Keeling, M. E., and Jacobson, C. B., 1970, Mongoloidlike condition in a chimpanzee, Proceedings of the 3rd International Congress of Primatology, Vol. 2, pp. 110–115, Karger, Basel.
McKusick, V. A., 1972, Heritable Disorders of Connective Tissue, 4th ed., C. V. Mosby, St. Louis, 878 pp.
McKusick, V. A., 1978, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 5th ed., Johns Hopkins Press, Baltimore, 975 pp.
Michels, N. A., 1955, Blood Supply and Anatomy of the Upper Abdominal Organs, J. B. Lippincott, Philadelphia, 581 pp.
Miller, J. Q., Picard, E. H., Alkan, M. K., Warner, S., and Gerald, P. S., 1963, A specific congenital brain defect (arhinencephaly) in 13–15 trisomy, N. Engl. J. Med. 268:120–124.
Mittwoch, U., 1967, DNA synthesis in cells grown in tissue cultures from patients with mongolism, in: Mongolism (G. E. W. Wolstenholme, ed.), pp. 51–60, Ciba Foundation Study Group No. 25.
Möbius, P. J., 1892, Ueber infantilen Kernschwund, Muenchn. Med. Wochenschr. 39:1ff.
Mortensen, O. A., and Pettersen, J. C., 1966, The musculature, in: Morris’ Human Anatomy, 12th ed. (B. J. Anson, ed.), pp. 421–611, McGraw-Hill, New York.
Morton, W. R. M., 1947, Arhinencephaly and multiple developmental anomalies occurring in a human full-term fetus, Anat. Rec. 98:45–58.
Motl, M. L., and Opitz, J. M., 1971, Studies of malformation syndrome in man. XXVA. Phenotypic and genetic studies of the Brachmann-deLange syndrome, Hum. Hered. 21:1–16.
Murphy, E. A., 1976, The Logic of Medicine, The Johns Hopkins University Press, Baltimore and London, 353 pp.
Myrianthopoulos, N. C., and Chung, C. S., 1974, Malformations in singletons: Epidemiological survey, Report from the Collaborative Perinatal Project, Birth Defects Orig. Artic. Ser. 11(11): 1–58.
Naeye, R. L, 1967, Prenatal organ and cellular growth with various chromosome disorders, Biol. Neonate 11:248–260.
Neuhäuser, G., and Opitz, J. M., 1975, Studies of malformation syndromes in man. XL. Multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father), Z. Kinderheilkd. 120:231–242.
Neuhäuser, G., and Usener, M., 1966, Hirnmissbildung und autosomale Trisomie, Z. Kinderheilkd. 95:244–262.
Neuhäuser, G., Kaveggia, E. G., and Opitz, J. M., 1976, Studies of malformation syndromes of man. XXXIX. A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “Craniofacial dyssynostosis,” Eur. J. Pediatr. 123:15–28.
Ohno, S., 1967, Sex Chromosomes and Sex-Linked Genes, Springer-Verlag, New York, 192 pp.
Opitz, J. M., 1977a, Epistemological aspects of congenital anomalies and malformations in man, Proceedings of the Vth International Congress on Human Genetics, Mexico City, Excerpta Medica, Amsterdam, Int. Congr. Ser. 411, pp. 155–166.
Opitz, J. M., 1977b, Diagnostic genetic studies in severe mental retardation, in: Genetic Counseling (H. A. Lubs and F. dela Cruz, eds.), pp. 417–445, Raven Press, New York.
Opitz, J. M., and Herrmann, J., 1977a, Clinical genetics and cancer, in: Genetics of Human Cancer (J. J. Mulvihill, R. W. Miller, and J. F. Fraumeni Jr., eds.), Chapt. 43, pp. 465–474, Raven Press, New York.
Opitz, J. M., and Herrmann, J., 1971b, The study of genetic diseases and malformations, Birth Defects Orig. Artic. Ser. 13(6):45–66.
Opitz, J. M., Herrmann, J., and Dieker, H., 1969, The study of malformation syndromes in man, Birth Defects Orig. Artic. Ser. 5(2): 1–10.
Oppenheimer, J. M, 1967, Essays in the History of Embryology and Biology (cf. particularly: Embryological concepts in the twentieth century; Questions posed by classical descriptive and experimental embryology, Ross Harrison’s contributions to experimental embryology), MIT Press, Cambridge, 374 pp.
Pallister, P. D., Herrmann, J., and Opitz, J. M., 1976, Studies of malformation syndromes in man. XXXXII. Pleiotropic dominant mutation affecting skeletal, sexual, and apocrine mammary development, Birth Defects Orig. Artic. Ser. 12(5):247–254.
Pallister, P. D., Meisner, L. F., Elejalde, B. R., Francke, U., Herrmann, J., Spranger, J., Tiddy, W., Inborn, S. L., and Opitz, J. M., 1977, Studies of malformation syndrome of man. XLIII-C. The Pallister mosaic aneuploidy syndrome, Birth Defects Orig. Artic. Ser. 13(3B):103–110.
Parisi, P., Del Porto, G., and DiBacco, M., 1975, Brachmann-deLange syndrome: A random combination?, Acta Med. Auxol. 7:179–200.
Passarge, E., Mecke, S., and Altrogge, H. C., 1971, Cornelia deLange syndrome: Evolution of the phenotype, Pediatrics 48:833–836.
Patau, K., Smith, D. W., Therman, E., Inhorn, S. L., and Wagner, S. P., 1960, Multiple congenital anomaly caused by an extra autosome, Lancet 1:790–793.
Paton, G. R., Silver, M. F., and Allison, A. C., 1974, Comparison of cell cycle time in normal and trisomie cells, Humangenetik 23:173–182.
Patton, B. M., 1968, Human Embryology, 3rd ed., McGraw-Hill, New York, 651 pp.
Pettersen, J. C., 1976, An anatomical study of two cases of cebocephaly, Symposium on the Development of the Basicranium (J. F. Bosma, ed.), DHEW Publication No. (NIH)76–989, pp. 240–265, U.S. Government Printing Office, Washington, D.C.
Pfaundler, M. von, and von Seht, L., 1922, Über Syntropie von Krankheitszuständen, Kinderheilkd. 30:100–120.
Pfitzer, P., and Münterfering, H., 1968, Cyclopism as a hereditary malformation, Nature (London) 217:1071–1072.
Pinsky, L., 1974, A community of human malformation syndromes involving the Müllerian ducts, distal extremities, urinary tract and ears, Teratology 9:65–80.
Pinsky, L., 1975, The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet, Teratology 11:227–242.
Pinsky, L., 1977, The polythetic (phenotypic community) system of classifying human malformations syndromes, Birth Defects Orig. Artic. Ser. 13(3A): 13–30.
Pinsky, L., Kaufman, M., Straisfeld, C., Zilahi, B., and Hall, C. St.-G., 1978, 5α-Reductase activity of genital and nongenital skin fibroblasts from patients with 5α-reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism, Am. J. Med. Genet. 1:407–416.
Polani, P. E., 1968, Chromosomal abnormalities and congenital heart disease, Guy’s Hosp. Rep. 117:323–337.
Porter, I. H., and Paul, B., 1974, The cell cycle and chromosome anomalies, Pediatr. Res. 4:394 (abstract).
Poswillo, D., 1973, The pathogenesis of the first and second branchial arch syndrome, Oral Surg. 35:302–338.
Preus, M., 1976, A screening test for patients suspected of having Turner syndrome, Clin. Genet. 10:145–155.
Preus, M., and Fraser, F. C., 1976, A methodology for establishing a diagnostic index for syndromes of unknown etiology, Clin. Genet. 10:249–253.
Preus, M., and MacGibbon, B., 1977, An application of numerical taxonomy to the classification of syndromes, Birth Defects Orig. Artic. Ser. 13(3A):31–38.
Ramirez-Castro, J. L., 1970, An anatomical study of the 18-trisomy syndrome, M.S. thesis, University of Wisconsin, 245 pp.
Rieger, R., Michaelis, A., and Green, M. M., 1968, 3rd. ed., 1976, 4th ed., A Glossary of Genetics and Cytogenetics, Springer-Verlag, New York, 507 pp.
Roach, E., DeMyer, W., Conneally, P. M., Palmer, C., and Merritt, A. D., 1975, Holoprosencephaly: Birth data, genetic and demographic analysis of 30 families, Birth Defects Orig. Artic. Ser. 11(2):294–313.
Robertson, A., and Cohen, M. H., 1972, Control of developing fields, Annu. Rev. Biophys. Bioeng. 1:409–464.
Rubin, J., and Robertson, A., 1975, The tip of Dictyostelium discoideum pseudoplasmodium as an organizer, J. Embryol. Exp. Morphol. 33:227–241.
Sampson, D. R., Hunter, A. W. S., and Bradley, E. C., 1961, Triploid X, diploid progenies and the primary trisomies of Antirrhinum majus, Can. J. Genet. Cytol. 3:184–194.
Schneider, E. L., and Epstein, C. J., 1972, Replication rate and lifespan of cultured fibroblasts in Down’s syndrome, Proc. Soc. Exp. Biol. Med. 142:1092–1094.
Schönfeld, W., 1954, Syndromatologie, Dtsch. Med. Wochenschr. 79:324–326.
Segal, D. J., and McCoy, E. E., 1973, Studies on Down’s syndrome in tissue culture. I. Growth rates and protein contents of fibroblast cultures, J. Cell. Physiol. 83:85–90.
Shapiro, B. L., 1970, Prenatal dental anomalies in mongolism: Comments on the basis and implications of variability, Ann. N. Y. Acad. Sci. 171:562–577.
Shapiro, B. L., 1975, Amplified developmental instability in Down’s syndrome, Ann. Hum. Genet. 38:429–437.
Sichitiu, S., Sinet, P. M., Lejeune, J., and Frézal, J., 1974, Surdosage de la forme dimérique de l’indophénoloxydase dans la trisomie 21, secondaire au surdosage génique, Humangenetik 23:65–72.
Smith, D. W., 1977, An approach to clinical dysmorphology, J. Pediatr. 91:690–692.
Smith, D. W., 1969, Recognizable patterns of malformation in childhood, Birth Defects Orig. Art. Ser. 5(2):255–272.
Sneath, P. H. A., and Sokal, R. R., 1973, Numerical Taxonomy: The Principles and Practice of Numerical Classification, W. H. Freeman, San Francisco, 573 pp.
Special article, 1974, Classification and nomenclature of malformations, Lancet 1:798.
Spemann, H., 1921, Die Erzeugung tierischer Chimären durch heteroplastische embryonale Transplantation zwischen Triton cristatus und taeniatus, Wilhelm Roux Arch. Entwicklungsmech. Org. 48:533–570.
Spemann, H., 1936, Experimentelle Beiträge zu einer Theorie der Entwicklung, Springer-Verlag, Berlin, 296 pp.
Spemann, H., 1938, Embryonic Development and Induction, Yale University Press, New Haven, Connecticut, 401 pp. (reprinted 1962 by Hafner, New York).
Spemann, H., and Mangold, H., 1924, Über Induktion von Embryonalanlagen durch Implantation artfremder Organisatoren, Arch. Mikrosk. Anat. 100:599–638.
Steigner, M., Stewart, R. E., and Setoguchi, Y., 1975, Combined limb deficiencies and cranial nerve dysfunction: Report of six cases, Birth Defects Orig. Artic. Ser. 11(5): 133–141.
Stern, C., 1968, Developmental genetics of pattern, in: Genetic Mosaics and Other Essays, pp. 130–173, Harvard University Press, Cambridge, Massachusetts.
Streeter, G. L., 1905, The development of the cranial and spinal nerves in the occipital region of the human embryo, Am. J. Anat. 4:83–116.
Tan, Y. H., Tischfield, J., and Ruddle, F. H., 1973, The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21, J. Exp. Med. 137:317–330.
Tan, Y. H., Creagan, R. P., and Ruddle, F. H., 1974, The somatic cell genetics of human interferon: Assignment of human interferon loci to chromosomes 2 and 5, Proc. Natl. Acad. Sci. U.S.A. 71:2251–2255.
Taylor, A. I., 1968, Autosomal trisomy syndromes: A detailed study of 27 cases of Edward’s syndrome and 27 cases of Patau’s syndrome, J. Med. Genet. 5:227–252.
Temtamy, S. A., Miller, J. D., Dorst, J. P., Hussels-Maumenee, I., Salinas, C., Lacassie, Y., and Kenyon, K. R., 1975, The Coffin-Lowry syndrome: A simply inherited trait comprising mental retardation, faciodigital anomalies, and skeletal involvement, Birth Defects Orig. Artic. Ser. 11(6): 133–152.
Tharapel, A. T., and Summitt, R. L., 1977, A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls, Hum. Genet. 37:329–338.
Thuline, H. C., and Norby, D. E., 1961, Spontaneous occurrence of chromosome abnormality in cats, Science 134:554–555.
Torpin, R., 1968, Fetal Malformations Caused by Amnion Rupture during Gestation, Charles C. Thomas, Springfield, Illinois, 165 pp.
Uchida, I. A, McRae, K. N., Wong, H. C., and Ray, M., 1965, Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia areata, Am. J. Hum. Genet. 17:410–419.
Versmold, H. T., Bremer, H. J., Herzog, V., Siegel, G., v. Bassewitz, D. B., Irle, U., v. Voss, H., Lombeck, I., and Brauser, B., 1977, A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis, Eur. J. Pediatr. 124:261–275.
Warkany, J., Passarge, E., and Smith, L. B., 1966, Congenital malformations in autosomal trisomy syndromes, Am. J. Dis. Child. 112:502–517.
Weiss, P., 1926, Morphodynamik: Einblick in die Gesetze der organischen Gestaltung an Hand von experimentellen Ergebnissen, Schaxel’s Abh. Theor. Biol. 23:1–43.
White, B. J., Tjio, J. H., Van de Water, L. C., and Crandall, C., 1978, Trisomy 19 in the laboratory mouse. I. Frequency in different crosses at specific developmental stages and relationship of trisomy to cleft palate, Cytogenet. Cell Genet. 13:217–231.
White, B. J., Tjio, J. H., Van de Water, L. C., and Crandall, C., 1974b, Trisomy 19 in the laboratory mouse. II. Intrauterine growth and histological studies of trisomies and their normal litter mates, Cytogenet. Cell Genet. 13:232–245.
Witschi, E., 1956, Development of Vertebrates, W. B. Saunders, Philadelphia, 588 pp.
Yakovlev, P. I., 1959, Pathoarchitectonic studies of cerebral malformations: III. Arrhinencephalies (holotelencephalies), J. Neuropathol. Exp. Neurol. 18:22–55.
Yu, J. S., and O’Halloran, M. T., 1970, Children of mothers with phenylketonuria, Lancet 1:210–212.
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Opitz, J.M., Herrmann, J., Pettersen, J.C., Bersu, E.T., Colacino, S.C. (1979). Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 9. Advances in Human Genetics, vol 9. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8276-2_2
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