Congenital anomaly

“ If that environment so affects it as to strangle a limb, the result is an acquirement, though it may be present at birth. An acquirement is an acquirement, whether it be acquired five minutes or months before, or five minutes or months after, the change of environment which we call birth. Thus a character may be congenital—that is, present at birth—but not inherent or germinal, not inborn at the real birth, which was the union of the maternal and paternal germ-cells at conception. Such congenital characters are really acquirements, and—poisonings apart—are not transmissible. ”

“ Many people imagine that what is abnormal is necessarily diseased. That is not the case, unless we give the word disease an inconveniently and illegitimately wide extension. It is both inconvenient and inexact to speak of color-blindness, criminality, and genius as diseases in the same sense as we speak of scarlet fever or tuberculosis or general paralysis as diseases. Every congenital abnormality is doubtless due to a peculiarity in the sperm or oval elements or in their mingling, or to some disturbance in their early development. ”

“ Incapacity for bearing children can be acquired; it develops, however, abundantly on the grounds of a congenital predisposition.
4. In so far as the latter is the case, obstetrics contributes towards the diffusion of this incapacity.
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5. The most serious obstacles to delivery are effected by deformities of the pelvis, in at least 90% of which heredity plays a part. In this connection, rickets, the predisposition to which is inherited, takes the foremost place.
6. German medical statistics make it appear probable that incapacity to bear children is on the increase. ”

“ This condition in mammals introduces a complicating factor which is likely to obscure the whole issue unless we bear it constantly in mind. In other words, we must discriminate sharply, in the discussion of inheritance in man, for instance, between two classes of influences which may exist in the infant at birth, that is, which are congenital; namely, those which were truly inherent—were in the germ-cells—at the very inception of the young individual, and (2) those which might later have been derived from either parent by the yet unborn offspring. ”

“ Injuries to the mother during pregnancy have been unquestionably the cause of certain malformations, especially of congenital hydrocephalus. The embryo itself and its membranes may become the subject of inflammations, atrophies, hypertrophies, and the like ”

“ That is essentially so, because the period from bib to puberty is the most impressionable after-birth period, during which a lad will tend to take on much that will aggravate congenital predisposition; predisposition the more fateful for the reason that it lurks in the unconscious, and there constantly presses upon its victim for expression. ”

“ His original assumption, untenable though it was, furnished at least a logical basis for the necessary conclusion that amphimixis was the only possible cause of congenital variations. But there is not so much as any logical sequence in the now substituted assumption, that (A) all congenital variations are ultimately due to the universal instability of germ-plasm, and (B) that nevertheless they are all more proximately due to such a high degree of stability of germ-plasm as necessitates amphimixis as the only means whereby variations can be made “perceptible.” ”

“ The organisation of a morbid predisposition may be largely influenced by an accident accompanying conception or gestation. In some degenerates cannot be found a trace of hereditary defect. The fact cited explains how sensorial excitations or repeated and violent emotions in the mother during [Pg 57] pregnancy give rise to profound nutritive troubles in the fœtus, and especially in its nervous system. These congenitally degenerated beings (ab utero) can hardly be distinguished from those having direct heredity. ”

“ The badness may be so severe that a fertilized ovum may be incapable of development; or, if it develops, the fetus miscarries or the child is stillborn; or, if the child is 17 born alive, it dies before it matures so that it can never have children of its own. Any mutation that brings about death before the gene producing it can be passed on to another generation is a lethal mutation. ”

“ Congenital leukæmia has been observed. Numerous cases of congenital neoplasm have been reported (hæmangioma, lymphangioma, fibroma, lipoma, neurofibroma, papilloma of the larynx, adenoma, carcinoma [liver, kidneys, stomach, intestine] , cystic tumors of liver, pancreas, kidneys and ovary, rhabdomyoma or rhabdomyosarcoma of kidney, heart, etc., adenosarcoma of kidney, dermoid cysts and various forms of teratomata) .
Congenital syphilis is so common and such an important condition in the new-born that especial search should always be made for evidence of its presence. ”

“ Certain abnormalities of the developing fetus are inconsistent with life, and are, therefore, a frequent cause of abortion. Dr. Mall, of Johns Hopkins University, showed after years of investigation that at least one-third of the embryos obtained from abortions were malformed and would have developed into monstrosities had they lived to term. It is often a great comfort to the expectant mother who loses her baby early in pregnancy to realize that had she carried her baby to term it might have been a monster, and that, therefore, she has not lost a beautiful, normal child. ”

“ Both congenital absence and congenital atrophy of the ovaries, will usually be found in association with other anomalies of the sexual organs. Absence of one ovary, on the other hand, by no means entails sterility; on the contrary, when a single well-formed ovary exists, ovulation usually proceeds in a perfectly 472normal manner. When such women marry, pregnancy usually follows in the normal proportion of cases; and, in complete opposition to one of the theories of the determination of sex to which allusion has been made, such women bear children of both sexes. ”

“ SYMPTOMS.—These congenital tumors begin early in life, and usually remain dormant until puberty. Then the periodic congestions of menstruation usually stimulate them into growth. Sometimes they need the increased vascularization of pregnancy. They are more liable than ovarian cysts to inflammation and suppuration, but they grow much more slowly, and very rarely reach the large size of the latter. They are also very liable to contract adhesions to every structure they touch, making their extirpation very difficult and sometimes impossible. ”

“ From the most intelligible form of double monstrosity, like the Siamese twins, there are all grades of fantastic fusion of two individuals into one down to the truly marvellous condition of a small body or fragment parasitic upon a well-grown infant—the condition known as foetus in foetu. These monstrosities are deviations, not from the usual kind of twin gestation, but from a certain rarer physiological type of dual development. In by far the majority of cases twins have separate uterine appendages, and have probably been developed from distinct ova ”

“ Maternal occupation and the risk of major birth defects: a follow-up analysis from the National Birth Defects Prevention Study. Int J Hyg Environ Health 216: 317–323226951061 2 Brent RL (2004) Environmental causes of human congenital malformations: the pediatrician's role in dealing with these complex clinical problems caused by a multiplicity of environmental and genetic factors. ”

“ The nurse may often dispel such an anxiety by drawing upon even her slender knowledge of embryology and reassure her patient that we know very little about inheritance, but that the evidence is that environment and early training are such important determining factors, that a child is more likely to be affected by the example and guidance of his parents during his first few years than through transmission from their blood.
Attempted abortions during the early months of pregnancy are more common than is generally supposed. Of their effect upon the offspring we know very little. ”

“ It is scarcely probable that any woman lives through the ten months of pregnancy without seeing, hearing or thinking things that would disfigure a baby if maternal impressions could produce such results, and yet newborn babies are very rarely blemished. Although the ultimate causes of marks and deformities of the fetus are not definitely known, they are probably to be found in faulty development very early in the embryonic life, and, therefore, are not preventable. ”

“ Teratological abnormities resemble neuropathies not only in their origin and the characteristics of their hereditability, but there can be found in their genesis, besides heredity, all the defective conditions of generation and gestation that have been charged, and justly, with the faculty of giving rise to disorders of the nervous system—emotions, shocks, defective food, alcoholism or any other intoxication, infections, etc. The greater frequency has been noticed of deformities among natural children in cases of conception during intoxication, disproportion in the age of progenitors, etc. ”

“ Not only do women become sterile in consequence of a miscarriage, and then, longing for offspring, find themselves permanently incapacitated for conception, but, in other cases, impregnation, or rather the attachment of the ovum to the uterus, being but imperfectly effected, or the mother's system being so insidiously undermined, the children that are subsequently brought forth are unhealthy, deformed, or diseased. ”

“ These congenital deformities consisting of combined increase or deficiency, supernumerary organs, or transposition of them, which usually render generation physically impossible, have been called bisexual hermaphrodism and classed as monstrosities. ”

“ However one answers the metaphysical or theological question whether the fetus is a "human being" or the legal question whether it is a "person" as that term is used in the Constitution, one must at least recognize, first, that the fetus is an entity that bears in its cells all the genetic information that characterizes a member of the species homo sapiens and distinguishes an individual member of that species from all others, and second, that there is no nonarbitrary line separating a fetus from a child or, indeed, an adult human being. ”

“ Some women have one child and are unable afterwards to give birth to any more. Such a condition is called one-child-sterility. It is generally due to an inflammation of the Fallopian tubes which closes up the openings of the tubes into the womb, so that no more ova can pass from the ovaries through the tubes into the womb. This inflammation may be the result of childbirth, for childbirth alone may set up an inflammation, or it may be due to an infection contracted from the husband. ”

“ Nevertheless the sex-ratio in the inbred stock continues as before, and since the missing males are those with red eyes we know that the tumor-gene is still present and doing its deadly work—only now the young male larvæ die even before they reach the age at which the tumor is due to appear.
So far I have spoken of heredity as though that term had become synonymous with Mendelian heredity. Those of as who are at work on Mendelian inheritance are often criticized as too narrow. It is said that we do not recognize that any other kind of inheritance takes place. ”

“ Gene alleles with reduced function, called hypomorphic alleles, therefore can generate different phenotypes from those of null alleles. Although null or severe loss-of-function mutations in essential genes may indeed contribute to spontaneous miscarriages, hypomorphic mutations in the same genes can contribute to less severe abnormalities that are recognized as human disease. Therefore, the human orthologs of genes required for embryonic development in the mouse can cause disease in mutated forms through a variety of mechanisms. ”

“ If the disease be present in the fetus, taking hold before birth, and so brought into the world with the child, there evolves the condition of pseudo-hermaphroditism. The individual, if a female, presents to a greater or less extent the external habits and character of the other sex. So that she is actually taken for a man, although the primary sex organs are ovaries, often not discovered to be such except when examined after an operation or death. How closely such an occurrence touches upon the problems of sex inversion and perversion comes at once to mind. ”

“ Indeed, it is now believed that most errors of development, such as lead to the production of great physical defects, are due to some cause within the embryo itself, and that most of them take place in the first three or four weeks, when the mother is by no means likely to influence the course of embryological development by her mental attitude toward it, for the very good reason that she knows nothing about it. ”

“ There is no doubt, however, that the mother's environment during pregnancy is in general very important for the perfect development of the intrauterine child. Many more deformed births are reported after times of stress and trial, as, for example, after the sieges of great cities, notably the siege of Paris in 1871, and such scenes of desolation as occurred during the thirty years' war in Germany. ”

“ In all abortions due to an immediate and active exciting cause, whether criminal or resulting from shock or accidental trauma, the ovum is healthy, normal in all its parts, size and development of the embryo corresponding to the period of pregnancy at which the accident occurred; whilst in spontaneous abortions due to accidental causes more or less marked changes exist: the development of the embryo especially is retarded ”