日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
33 巻 , 1 号
Congenital Anomalies
選択された号の論文の10件中1~10を表示しています
  • 1993 年 33 巻 1 号 p. 2-3
    発行日: 1993年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
  • 1993 年 33 巻 1 号 p. 5-13
    発行日: 1993年
    公開日: 2021/07/28
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  • 1993 年 33 巻 1 号 p. 15-30
    発行日: 1993年
    公開日: 2021/07/28
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    ABSTRACT Fetal alcohol syndrome is known as an effect given by mothers. In connection with this, we so far observed rats from physical, biochemical, histological, and functional standpoints. Recently we observed synaptogenesis in brain together with behavior and learning ability of rats. Ethanol was given to mother rats during pregnancy and nursing periods, and learning ability of their offspring at 12 weeks of age was studied by the radial arm maze method. Also synaptogenesis in the hippocampus CA1 was observed at 2, 7, 14, 21, and 70 days of age by quantitative electron microscopy. The offspring were significantly deficient in learning ability tested with the maze compared with offspring of mother rats not exposed to ethanol. Densities of all synapses in the strata radiatum and lacunosum-moleculare of CA 1 in the hippocampus became significantly lower at every time of the observation. Both axo-spinous and axo-shaftic synapses significantly decreased. Thus we found that observations of learning ability agreed with observations of synaptogenesis in the hippocampus CAI which has important association with memory. This fact suggests that both observations will be of great value in the research in behavioral teratology.
  • 1993 年 33 巻 1 号 p. 31-44
    発行日: 1993年
    公開日: 2021/07/28
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    ABSTRACT A high incidence of atrioventricular septal defect was induced in rat fetuses by administration of N, <-his (dichloroacety1)-1, 8-octamethylenediamine, bisdiamine, to pregnant Donryu rats. Induction of atrioventricular septal defect was highly dependent on day of bisdiamine administration. When bisdiamine was administered singly on day 9.4 of gestation or consecutively on days 9 and 10 of gestation, the incidence of atrioventricular septal defect in fetuses increased. Survival rate decreased with increase in the amount of bisdiamine administered. Normalized incidence5 for atrioventricular septal defect, which was calculated as a product of incidence and survival rate, was as high as 54.5% when 175 mg bisdiamine was administered on day 9.4 of gestation. Atrioventricular septal defect thus formed was of the complete type associated with either persistent truncus arteriosus or tetralogy of Fallot, indicating that the conotruncal portion was unexceptionally malformed. The present model is useful for analysis of development and pathogenesis of atrioventricular septal defect and also contributes to clarifying the normal development of atrioventricular valves and septa.
  • 1993 年 33 巻 1 号 p. 45-53
    発行日: 1993年
    公開日: 2021/07/28
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    ABSTRACT Campomelic syndrome is a heterogeneous group of disorders characterized by short-limbed dwarfism with congenital bowing or bending of the long bones particular- ly in the lower limbs and is frequently associated with a variety of non-skeletal manifesta- tions. Two distinct types are (1) long-limbed campomelic dysplasia with bent bones of normal length and width: (2) short-limbed campomelic dysplasia in which the bent bones are short and wide. We reported an autopsy case of this syndrome. This male baby with gestational age of 32 weeks was born to a mother with placenta previa, showing abdominal distention and short-limbed appearance. Postmortem examination revealed bilaterally enlarged Potter type 1 polycystic kidneys, a pancreatic cyst, and two spleens in the abdominal cavity. Both lungs were hypoplastic and the heart exhibited multiple congenital anomalies such as double outlet right ventricle, pulmonary artery hy- poplasia, mitral atresia, absence of ductus arteriosus, and inferior vena cava draining into the left atrium. Characteristically both femur bones were curved at proximal two-thirds with slightly shortened lengths. Both humeri also showed bending of distal one-third. Other cfiondro-osseous abnormalities such as small epiglottis, narrow thorax, dolichocephaly, and bilateral equinovarus deformity were noted. These findings were compatible with campomelic dysplasia of long-limbed type accompanying unusual sets of non-skele- tal manifestations of Potter’s syndrome and cardiosplenic syndrome.
  • 1993 年 33 巻 1 号 p. 55-62
    発行日: 1993年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
    ABSTRACT Wassel's classification of thumb polydactyly has some problems especially in categories IV and VII because it depends solely on X-ray findings. In order to improve his thumb polydactyly classification, we examined histologically untreated 182 bifid thumbs from 171 patients at Branch Hospital, Nagoya University in the past eight years. Ninety-five of these cases had proximal phalangeal separate type of polydactyly corresponding to Wassel's categories IV and VII. Forty-five thumbs of these categories were excised from 44 patients and classified into type I (24 cases), type I1 (12). type 111 (4), and type IV (5) in accordance with Kanno's classification. In distal phalanges, normal cartilage development was observed in Kanno's type I, whereas proximally elongated cartilaginous tissue was formed in the type 11. Three distal phalanges from types I1 and 111 showed depression at the ulnar side of elongated cartilage of the distal phalanx where immature chondrocytes transversely distributed. Three cases with incomplete and one case with complete joint formation were formed in elongated cartilage of the distal phalanx, and endochondral ossification developed in the central area of elongated cartilage of the distal phalanx in four cases from types I11 and IV. All of the cases showed only minimal mobility of their involved joints. Their tendon development did not correspond to their anatomical characteristics. Histological studies indicated that there was no distinct difference between Wassel's category IV and category VII. It was postulated that the triphalanism belonging to Wassel’s category VII should be classified according to its type of bifurcation rather than its number of phalanges.
  • 1993 年 33 巻 1 号 p. 63-75
    発行日: 1993年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
    ABSTRACT ThW+ mouse is known to have differing phenotypes depending on gender of the ThP parent. In the present study, fetuses with maternally [Group A (until day 18 of pregnancy) and Group C (day 19)] and paternally [Group B] inherited ThP were examined with particular reference to the developmental abnormalities of hearts. In addition, a small number of fetuses with maternally inherited twLub2 on day 19 were compared with Thp. Group A ThP fetuses had greater body weight, possibly larger body size, generalized edema (loo%), marked enlargement of the hearts (100%) and hypoplastic pulmonary trunk (73.7%). There were no such malformations in Group B ThP fetuses or in the con- trols (+/+) for both groups. The bilaterally thickened ventricular wall of fetal hearts in Group A and C ThP fetuses bulged into ventricular cavity. The pulmonary valve was also thickened. The labeling indices of the ventricular myocardial cells by BrdU were inclined to be higher in Group A ThP than in the control (+I+) fetuses. Fetuses of twLub2 had abnormalities of the cardiovascular system similar to Group C Thp. The results suggest that cardiac lesions in fetuses with maternally inherited ThP and twLub2 correspond to cardiomyopathy. Overgrowth and enlarged heart indicate the possibility of ThP as an ani- mal model for Wiedemann-Beckwith syndrome.
  • 1993 年 33 巻 1 号 p. 77-84
    発行日: 1993年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
    ABSTRACT Embryotoxicity and teratogenicity of 5-fluorouracil (5-FU) and modulation of its effect by N-acetyl-L-cysteine (NAC) andor phorone were evaluated in mice. Preg- nant ICR mice were intraperitoneally injected with 25 mglkg of 5-FU on day 11 of gestation (vaginal plug = day 0). Pregnant mice were pretreated with NAC at dose levels of 80, 160, and 320 mgkg injected intravenously 2 hours before dosing with 5-FU. Pregnant mice were killed on day 17 of gestation. Fetuses were examined for external malformations, especially limb malformations. Pretreatment with 160 mgkg and 320 mg/ kg of NAC decreased the incidence and severity of oligodactyly induced by 5-FU. There was little difference in maternal body weight gain, fetal mortality, and fetal weight be- tween the 5-FU group and the 5-FU plus NAC groups. Pretreatment with phorone, a glutathione depleting agent, at dose levels of 160 and 320 mgkg injected intraperitoneally, 4 hours before dosing with 5-FU, increased the incidence and severity of oligodactyly induced by 5-FU. Cotreatment with NAC at dose levels of 160 and 320 mgkg decreased the incidence and severity of oligodactyly induced by 5-FU and 80 mgkg of phorone. Cotreatment with NAC 160 mgkg could not suppress the augmentative effect of phorone on 5-FU teratogenicity under the severe condition, that is, the excess amount of phorone such as 320 mgkg. These results indicate that the teratogenicity of 5-FU is mitigated with NAC pretreatment, and also the level of endogenous glutathione is one of the factors which significantly affects teratogenicity of 5-FU.
  • 1993 年 33 巻 1 号 p. 85-94
    発行日: 1993年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
    ABSTRACT Clinical features of 11 cases of congenital contractural arachnodactyly (CCA) were reported. Eight cases were male and 3 cases were female. Family history was positive in 6 cases of 3 families. As for hand deformity, flexion of the finger, adduction of the thumb and shortening of the palmar skin were observed in all cases, arachnodactyly in ten cases, flexion contracture of the finger joint in 6 cases. Dolichostenomelia and crumpled ear deformity were associated in all cases, spinal deformity in 6 cases, flexion contracture of the lower extremities in 5 cases, micrognathia in 2 cases and high palate, strabismus, pectus excavatum and polydactyly of the fifth toe in one case. Arachnodactyly was not an essential feature of CCA. Existence of multiple camptodactyly with or without arachnodactyly and/or ulnar drift of the fingers, and crumpled ear deformity were important findings for differential diagnosis of CCA. There was no association of cardiovascular anomalies in this series. CCA without ocular and cardiovascular involvement must be a definite clinical entity and should be distinguished from the other forms of marfanoid habitus.
  • 1993 年 33 巻 1 号 p. 95-96
    発行日: 1993年
    公開日: 2021/07/28
    ジャーナル オープンアクセス
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