Congenital abnormality

“ 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 ”

“ It is not hereditary, although inheritance plays a notable part in many other congenital deformities, and it cannot be attributed to any known influences arising during intra-uterine life, but, as might be expected, the mother is often able to conjure up some reminiscence of the period of gestation which to her mind affords a perfectly satisfactory clue to the mystery. ”

“ 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. ”

“ Congenital extroversion or eventration is the result of some congenital deficiency in the abdominal wall; instances are not uncommon, and some patients live as long as do cases of umbilical hernia proper. ”

“ 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. ”

“ Congenital weakness.—Some children are born extremely weak, and remain constantly debilitated and cold. This is very apt to be the case when they are born before the full term, or when the mother is diseased. ”

“ 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. ”

“ Some regard the blood circulatory and uterine condition as the expression of a congenital defect leading to the formation of a diathesis—and in certain cases this may be so—but some of the most marked cases I have seen have been in girls of healthy families, who after a healthy childhood developed chlorosis at puberty, from which, under suitable treatment, they recovered to become robust and vigorous women. ”

“ Severe malarial infection, syphilis, pregnancy, chronic gastro-intestinal disease, chronic gas-poisoning, are all, in different cases, known to have been causally associated with it, and it is probable that a congenital weakness of the bone-marrow has often to do with its production, as in many cases a family or hereditary history of the disease can be obtained. ”

“ 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. ”

“ 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. ”

“ When we say that such an innate character is transmitted, we mean only that the germ-plasm has such a constitution that, in the presence of the epigenetic factors and the absence of abnormal epigenetic factors, the bone will appear in due course and in due form. If an abnormal epigenetic factor be applied during development, whether to the embryo in utero, to the developing child, or in after life, abnormality of some kind will appear in the bone, and such an abnormality is a good type of what is spoken of as an “acquired” character. ”

“ All malformations arise during the first six weeks of pregnancy known as the embryonic period, in which the development of the form of the child is taking place, and during which time there is little consciousness of pregnancy. Maternal impressions are usually received at a later period, when the form of the child is complete and it is merely growing. It must be remembered also that there is neither nervous nor vascular connection between the child in the uterus and the mother, the child being from the period of conception an independent entity to which the mother gives nutriment merely. ”

“ It may be required by diagnosticated malformation or monstrosity of the fœtus and by malformations on the part of the mother; by extreme pelvic contraction, congenital or from rickets or malacosteon, preventing the natural passage of a fœtus after viability, by tumors incapable of elevation or displacement, by contraction of the vagina, or by other severe obstetric complications, either recent or of long standing. ”

“ 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. ”

“ By congenital is meant not defective foetal development, but failure of the immature child uterus to develop at puberty, a failure which usually pertains alike to the uterus, Fallopian tubes, ovaries, and vagina. In congenital anteflexion the uterus is bent upon itself almost double, the body and cervix both pointing in the direction of the pelvic outlet, with the cervix somewhat elongated and situated in the long axis of the vagina. ”

“ 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. ”

“ 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. ”

“ 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. ”

“ Breeding Out Defects.—Even though recessive defects occur in a stock, there is the possibility of diluting out the imperfection in successive generations if care is taken always to marry into a stock wholly free from it. For example, a normal individual carrying a recessive defect will bear the abnormality in half of his or her germ-cells. This means that when such an individual marries a normal, non-carrier, half of their children will be wholly normal (AA) and half will be carriers; normal but of simplex constitution (Aa) . ”

“ 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. ”

“ That they are not more than coincidences, however, is rather easy to demonstrate in most cases, since, as a matter of fact, at the time when the incident occurred which is supposed to have caused the deformity in the foetus, the stage of development of the intrauterine child has passed long beyond the period when formative defects could occur. For instance, it sometimes happens that the child-bearing woman {65} sees an accident especially to the father of the child involving the loss of a limb. ”

“ While in Coolidge’s opinion congenital club-foot unquestionably arises from different causes, it is, however, so frequently an accompaniment of severe forms of mal-development and of congenital brain defects, that there can be no doubt but that imperfect constitutional development is one of its causes. That the deformity with the many limitations which it involves may tend to create morbidness is very likely to be an additional symptom of the degeneracy which, in certain cases, is the underlying cause for the deformity. ”

“ But at the same time it must be remembered that several diseases, and particularly suppressed and irregular menstruation, or the development of tumors and polypi, will effect very similar changes, and that it is not always possible to say whether they arise from these abnormal growths or from pregnancy, though it can generally be done. But though we cannot, in every case, say when these signs exist, that the female must be pregnant, we can nearly always say, when they do not exist, that she cannot be so, particularly if the other usual signs are absent. ”

“ 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. ”

“ Mere arrest of development of a part may arise from accidental disease of the embryo; hence vital organs are left out, or portions of organs, like the dividing walls of the heart, are omitted. Sometimes an older fetus is inclosed in the body of another, each having started independently from a separate ovum, but the one having become embedded in the semifluid mass of the other and having developed there simultaneously with it, but not so largely nor perfectly. ”

“ Conception with Deficient Organs.—Having spoken of conception with some obstructive interference, conception with some natural or acquired deficiency of the functional, organic, or genital apparatus must be considered. It is a well-known fact that women exhibiting rudimentary development of the uterus or vagina are still liable to become pregnant, and many such cases have been recorded; but the most peculiar cases are those in which pregnancy has appeared after removal of some of the sexual apparatus. ”

“ Blindness, for example, may be an inborn defect. The child from conception may have lacked the requisites for the development of sight. On the other hand, it may be an acquired character, due to an ill-advised display of patriotism on July 4, at some time during childhood; or even to infection at the moment of birth. Similarly small size may be an inborn character, due to a small-sized ancestry; but if the child comes of a normal ancestry and is stunted merely because of lack of proper care and food, the smallness is an acquired character. ”

“ Excessive development may result in an extra finger or toe, or in the production of some peculiar excrescence. Deficiency of development may produce all degrees of abnormality from the simple harelip to the most frightful deficiency, as the absence of a limb, or even of a head. It is in this manner that those unfortunate individuals known as hermaphrodites are formed. An excessive development of some parts of the female generative organs gives them a great degree of similarity to the external organs of the male. ”