official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 24 , Issue 4
Congenital Anomalies
Showing 1-16 articles out of 16 articles from the selected issue
Original Article
  • 1984 Volume 24 Issue 4 Pages 283-292
    Published: 1984
    Released: July 13, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT Mouse trisomy 16, which was induced by mating males of Rb(16.17)7 Bnr/Rb(9.16)9Rma with three different strains of female, C57BL/6, C57BL/10 and C3H/He, was examined in fetuses and newborns in terms of incidence of occurrence, malformations and sex ratio. The incidence of trisomics tended to be higher in C3H/He than in C57BL/6 and C57BL/10. Trisomics could not survive beyond term in C57BL/6, which was most thoroughly examined in the three strains. Trisomyassociated generalized edema, beginning to appear on day 14 of pregnancy on fetus’s back, reached the maximum on day 16 in all strains. On cardiovascular anomalies, persistent common atrioventricular canal was observed in virtually all trisomics from C57BL/10 and C57BL/6, while in about 80% from C3H/He. In conotruncal region, all trisomics from former two crossing exhibited double outlet right ventricle or persistent truncus arteriosus. In addition to these anomalies, riding aorta was found in C3H/He. Hydroureter and hydronephrosis developed from day 17 of pregnancy in trisomics other than those in C57BL/10. The histological study of gonads revealed that trisomy 16 tended to be predominant in males of each crossing. The anomalies encountered in mouse trisomy 16, such as edema, persistent common atrioventricular canal, and hydroureter and hydronephrosis appeared to be in common with human trisomy 21 embryos and fetuses. The tendency of predominance of mouse trisomics in males may provide further homology to human trisomy 21. It is supposed that genetic background by different female strains may affect phenotypic expression of malformations. The extremely high incidence of cardiovascular anomalies is regarded as suitable material for elucidation of pathogenesis.
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  • 1984 Volume 24 Issue 4 Pages 293-298
    Published: 1984
    Released: July 13, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT Cells from tuberous sclerosis (TS) patients have been reported to show hypersensitivity to X-rays or radiomimetic chemicals, N-methyl-”-nitro-Nnitrosoguanidine (MNNG). We investigated the frequencies of chromosome aberrations and sister chromatid exchanges (SCE), and cell cycle kinetics in MNNGtreated lymphocytes from 7 patients with TS and 7 controls. There were no significant differences between the two groups in chromosome aberrations, SCE frequency or cell cycle kinetics. Our results did not support the hypersensitivity to MNNG.
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  • 1984 Volume 24 Issue 4 Pages 299-304
    Published: 1984
    Released: July 13, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT Wistar rats were administered M-protein fraction (MP) of group A type 12 hemolytic streptococci or rabbit anti-MP serum (AMPS) on day 9 of gestation. The incidence of malformations was 11.8% when 9 mg/kg of MP was administered and 12.0% when 9 ml/kg of AMPS was injected. The main malformations observed in both groups were ventricular septa1 defect, microphthalmia, anophthalmia, and hydrocephaly. Light and electron microscopic studies revealed no myocarditis nor endocarditis in either the maternal or fetal heart. Fluorescent antibody technique demonstrated no localization of anti-MP antibodies on the maternal heart. The results suggest that MP and AMPS are slightly teratogenic in the rat, and that the teratogenesis is not caused by an autoimmune mechanism.
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  • 1984 Volume 24 Issue 4 Pages 305-318
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT Two cases of fetal inclusion were presented and 27 cases ever reported in Japan were reviewed. The first case presented had placental component and highly differentiated visceral organs in addition to the vertebral column and skin covering the included mass. The second case also had vertebral column and skin but the organoid pattern was not so clear as seen in the first case. It was most important to differentiate included fetus from teratoma in this second case and in some cases reviewed here, in which an orderly arranged visceral organ was not noted. Thus, diagnostic criteria described by Ohkawa et a1 was revaluated on the basis of embryological consideration and then it was concluded that included fetus could be diagnosed only by the presence of vertebral column and skin covering the included mass. Finally, it is proposed that fetal inclusion may be regarded as an acardiac structure embodied in the autosite.
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  • 1984 Volume 24 Issue 4 Pages 319-328
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT With the definition of teratogenicity was expanded in terms of developmental stages when the agent acts and types of developmental anomalies induced, the concept of reproductive toxicity or developmental toxicity has been established. These new terms are essentially the synonym; the former gives the prime emphasis on the parent generation while the latter on the longer phase of developmental stage of the offspring. It has been generally stated that the environmental agents which act before the onset of organogenesis will bring the embryo either death or normal growth. However, some affect the preimplantation embryos with resultant congenital anomalies. Moreover, it has been demonstrated that various developmental defects can be induced by a premating treatment to males, some of which may have been caused by mechanisms other than mutagenicity. On the other hand, oogenesis in females takes a very long time and it is often difficult to determine when these environmental agents act before or after pregnancy. Recent episodes of herbicides (Agent Orange) and vaginal spermicides were introduced as examples. Pharmaceutical drugs, chemicals given to humans intentionally at a relatively large amount in a limited duration, have been requested to be tested in laboratory animals on the possible developmental defects in offspring even when given prior to organogenesis. In Japan, at the test administered prior to and in the early stages of pregnancy (segment I study), it is recommended not only to examine fertility of the parent genwation but also to observe the development of offspring as long as practically possible. In the symposium held at the 24th Annual Meeting of the Japanese Teratology Society, significance of developmental failures of the offspring induced by environmental factors given to the parents and during the preimplantation period was critically discussed.
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  • 1984 Volume 24 Issue 4 Pages 329-337
    Published: 1984
    Released: July 13, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT Sensitivity of fertilized mouse eggs to X-rays and chemicals was compared with that of parental germ cells and embryos at organogenesis. When X-rays were given to pregnant ICR mice at about 6 hr after fertilization (pronucleus stage), there is a dramatic increase of dead embryos with X-ray dose. A half of fertilized eggs were killed by 50 R of X-rays, while there is no increase of dead embryos and fetuses up to 150 R when pregnant mice were treated on Day 9.5. Striking is high sensitivity of fertilized eggs to synthetic surfactants, alcohol sulfate (AS) and linear alkylbenzene sulfonate (LAS). When 0.1 ml of AS was painted on the back of pregnant mice from Day 0 to Day 2, significant numbers of deformed (dead or dying) embryos were observed. The incidence of deformed embryos increased with doses of AS. Similar results were observed with LAS, and commercially obtained kitchen detergents and shampoo. When fertilized eggs were exposed to X-rays and chemicals at pronucleus stage (Day 0), however, tumors and anomalies were induced at very low rate if at all, while embryos at organogenesis and growing fetuses showed high susceptibility to X-ray and chemically induced anomalies and chemically induced tumors, respective- Parental exposure to X-rays induced significant yields of dominant lethals, anomalies and tumors in the offspring. However, the incidences of lethals and anomalies were much lower than those induced by treatment of embryos at organogenesis with equivalent doses of X-rays.
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  • 1984 Volume 24 Issue 4 Pages 339-352
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT The hormonal requirements for ovum implantation vary among species; at least in the mouse and rat, progesterone and estrogen, of which production and secretion are controlled along the hypothalamo-pituitary-ovarian axis, are indispensable for the initiation of an implantation. In fact, implantation of the blastocyst in these species is delayed or prevented by not only ovariectomy, but also by: hypophysectomy, lesion of the median eminence or a treatment of the maternal organism with an agent that interferes with this endocrine control system. The preimplantation developmental events such as cleavage, blastocyst formation and shedding of the zona pellucida and gestational changes of the uterine luminal epithelium are delayed under a few conditions causing a delayed implantation. Experimental data suggesting that uterine changes leading to the formation of a ‘receptive’ endometrium are hormone-dependent are accumulating. Thus, the observed delay in changes in the uterine epithelium may be attributed to the alteration of the endocrine control. In contrast, it is difficult to determine how the delay in embryonic development occurs. Among the conceivable explanations are: the direct effect on embryos (ova) of implantation-delaying factors, a mechanism synchronizing embryonic development with the uterine change or disturbance of possible hormonal control over the embryonic development.
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  • 1984 Volume 24 Issue 4 Pages 353-372
    Published: 1984
    Released: July 13, 2021
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  • 1984 Volume 24 Issue 4 Pages 373-383
    Published: 1984
    Released: July 13, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT All 55,103 neonates, including 808 stillbirths after the 16th gestational week, born in 11 Tokyo Metropolitan hospitals during April 1978-December 1982, were monitored. Neonates with recognizable birth defects within 1 postnatal week were exhaustively collected. 4,006 neonates showed one or more of the defects, but major defects with functional impairments were observed in 698, or 1.3% of the neonates, being identical to the figures in other reports. Mutliple defects totaled 464, including 54 chromosome anomalies and 30 genetic syndromes. Of 3,541 single defects, 3,126 were classifiable by the codes for the birth defects in the International Classification of Diseases. Temporal trends were evaluated with three methods in 17 selected defects including 11 designated by the Clearinghouse. The results were 1) a rise was alway transient and random being followed by a period with the base-line frequency, the overall trends being stationary, 2) a sharp rise of anencephalus in July, 1982 was due to four cases happened within several kilometers in downtown Tokyo around Koto-ku area, 3) polydactyly and syndactyly showed identical results, 4) suitableness of three methods were compared with basically identical results.
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  • 1984 Volume 24 Issue 4 Pages 385-393
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT The Kanagawa Birth Defects Monitoring Program has been in operation since October 1981 as the first population-based monitoring system in Japan. By the end of 1983, baseline rates of 48 marker malformations were calculated from 100,000 births. Several biological factors increase the incidence of malformations. They include stillbirth, low birth weight, small for gestational age, consanguinity and multiple birth. In the case of obvious deviations from the baseline rates, artificial factors should be ruled out prior to the decision of true deviations. The accuracy of KAMP seems to be high by the monitor of Down syndrome as an indicator. In order to establish the population-based program, covering all or nearly all births in a whole country, the following conditions should be satisfied: 1) the adoption of common marker malformations with clear definitions, 2) the standardization of the systems, 3) the standardized data analysis and the follow up procedures of “alarms,” 4) a better classification system of birth defects, 5) the official government sanction and financial support.
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  • 1984 Volume 24 Issue 4 Pages 395-402
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT The prevalence and distribution of the congenital malformed infants and the neurocutaneous syndrome patients who were born in Tottori Prefecture, Japan between 1974 and 1983 were reported. The average prevalence of 581 cases with congenital malformations at birth was 1.21 per 100 births (live and stillbirths), which was similar to other populations in Japan. The prevalence values of cleft lip, cleft palate and cleft palate with cleft lip in Tottori was somewhat higher than in Kanagawa and Osaka districts. Frequencies of tuberous sclerosis, Sturge-Weber syndrome and neurofibromatosis in live births were about 1 :22,000, 1 :65,000 and 1 :2,200, respectively. These data in Japanese population were considered to be about the same as those reported in Caucasian populations.
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  • 1984 Volume 24 Issue 4 Pages 403-410
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT Since the thalidomide episode, a number of monitoring systems for birth defects have been developed in Europe and America. The International Clearinghouse for Birth Defects Monitoring Systems founded in 1974 plays a key role as the sole world-wide international information exchanging and collaborating centre. EUROCAT (EEC Concerted Action : Registration of Congenital Abnormalities and Multiple Births) established in 1979 is taking its action engulfing now 17 cities in member countries. The author states an introductory review on the work of the two international organizations with special reference to Japanese situation around the birth defects monitoring systems.
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  • 1984 Volume 24 Issue 4 Pages 411-419
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT Operative techniques for unilateral cleft lip and palate have undergone continuous development, with improvement and modification, during the last three decades. The author’s operation began with Tennison’s method and gradually changed into a narrower and long triangular flap method. The edge of the orbicularis oris muscle on the cleft side is tucked under the center of the philtral dimple to obtain muscles linkage and a philtral ridge on the affected side. The longitudinal line is sutured with meticulous subcuticular stitches using 6-0 Nylon, resulting in a neat scar. Relationship between vertical height of lip and width of triangular flap was examined in follow-up studies. Flap width increased rapidly for one year after surgery and then slowed down to a pace proportionate with lip height. Although ratio of flap width to height increased from 27% to 4076, the balance of both sides of the lip did not, as had been thought might be possible, change. Correction of the cleft lip nose by the triangular flap method is rather difficult. It is considered natural for many surgeons to prefer a combination of the rotation-advancement flap and small triangular flap. Much remains to be discussed regarding cleft palate treatment. Author prefers closure of the hard palate using a vomer flap in the primary cleft lip operation because the most effective push-back of the palate, without fistulae, is achieved. Underdevelopment of lip and maxilla should be evaluated from many aspects, and with a long-term view.
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  • 1984 Volume 24 Issue 4 Pages 421-428
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT From 1974 to 1984 we have performed operations on 142 patients with bilateral cleft lip using the Manchester method. Presurgical oral orthodontics were given to 84 patients out of 142. We used a head cap with elastic band and oral appliance which was devised by Dr. J. H. Peat. Experience proves that the earlier presurgical oral orthodontics was begun, the more satisfactory were the results. Treatment of our cases was started as early as at approximately 4-6 weeks of age. The average length of treatment was 8 weeks, and the patients were operated on at the age of 3-5 months. Post operative results in almost all of our cases were satisfactory. The advantages were 1) lip with satisfactory length, 2) acceptable scar pattern, 3) free prolabium and deep gingiva-labial sulcus. However, several problems to be overcome in our cases were remained. These problems appeared severely depending on the degree of congenital deformity. Secondary repair to the extremely depressed nose and short columella was performed at the age of 4-6 years. In these cases we made a forked flap on the upper lip and elongated a short columella while at the same time repairing the wide cupid’s bow.
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  • 1984 Volume 24 Issue 4 Pages 429-438
    Published: 1984
    Released: July 13, 2021
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    ABSTRACT In the 10 years from 1973 to 1982, 537 microtia patients visited to our Department. The operation is usually started around the age of ten years. We have used to reconstruct the auricle consists of two stages. To transplant the cartilage framework, the subcutaneous pocket is made from the incision line for the switching of the auricular remnants. The thickness of the skin layer in this pocket was selected to correspond to a depth immediately below the subdermal plexus. The skin of the auricular area is fitted closely to the transplanted cartilage framework by several mattress sutures tied over gauze. After transplanting the framework, it is of paramount importance for achieving a well-shaped prominence for the helix and anthelix to ensure that no excessive stress is brought to bear from the outside of the auricle. For this purpose, we used a thick Reston Sponge (3M Co., Ltd.) with a hole provided in the middle and stuck it onto the auricle. About six months after the first stage operation, the transplanted framework is raised from the side of the head with its overlying skin, in one stage. The skin flaps A and B are prepared at the upper and lower parts of the root of the auricle. These two flaps are transferred along the auriculocephalic sulcus toward the posteromedial auricular surface and sutured with 4-0 nylon mattress sutures. The raw area left even after this, a full thickness skin graft taken from the abdominal region is transplanted.
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  • 1984 Volume 24 Issue 4 Pages 439-449
    Published: 1984
    Released: July 13, 2021
    JOURNAL OPEN ACCESS
    ABSTRACT We have thirty-eight patients of cleft hand, and they were divided into three groups from the surgical point. Four patients (seven hands) has only one digit on the radial side of the cleft. In these patients there was little indication for the surgical improvement. The thumb and index finger are completely webbed in six patients (seven hands), and reconstruction to permit thumb function is essential above all in these. In most patients of cleft hand (thirty-one out of thirtyeight) thumb function is preserved, but abduction of the thumb was more or less limited. Surgical procedure for these patients are discussed. There are three important point in surgical reconstruction of the celft hand; First is a skin incision to restore thumb abduction; Second is a realignment of the second metacarpal (index ray); and Third is a restoration of intrinsic function. Regarding the first and second point we reported previously (Miura and Komada, 1979). Now, we would like to emphasis that intrinsic function act as a key to get satisfactory result in surgical procedure for the cleft hand. We could use the extrinsic extensor or flexor muscles of the missing middle finger as a proper force for restoration of intrinsic function. We were pleased to use the extrinsic extensor that is found in same incision for the translocation of the index ray. The extrinsic flexor in only one patients was used, and the functional result was same as other patients the extrinsic extensor was used. The extrinsic extensor of the middle finger was abscent in one patient.
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