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Results for “Congenital abnormalities”

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At least 19 recordsLinked to original sources
PubMed1979

Congenital abnormalities: "is it wise to have another child?".

Congenital abnormalities affect some five per cent of all live births, and are a major factor in childhood morbidity and mortality. Most physicians, therefore, encounter a variety of developmental disorders, and must frequently deal with problems faced by a handicapped patient and his family. This task is becoming increasingly difficult with the growth and sophistication of genetic knowledge and changes in society's attitude toward medical practice. Although congenital abnormalities are classified according to a variety of presumed genetic or environmental 'causes', it is important to remember that most developmental disorders result from complex interactions of genes and environment, and that time is an important factor. Optimal understanding of a congenital defect may, therefore, be best achieved by study of a patient within the wider context of his family. The family history is one of the most powerful tools available in establishing a diagnosis and in answering parents' questions concerning prognosis and recurrence risk. Ultimately, however, decisions based on genetic counselling must be made by the parents themselves, within the context of their own fears, beliefs and aspirations.

Chromosome Aberrations↗
PubMed1979

Congenital abnormalities in newborns of consanguineous and nonconsanguineous parents.

The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

Abnormalities, Multiple↗
PubMed1979

Congenital abnormalities and Perthes' disease. Clinical evidence that children with Perthes' disease may have a major congenital defect.

This paper reports a high incidence of minor congenital anomalies in boys and girls with Perthes' disease compared with that in a control population. There is a similarity of the incidence of minor anomalies in the children with Perthes' disease to that in babies with a single major congenital defect. Multiple major defects were more numerous and more severe than in the control children. It is speculated that there may be a congenital abnormality affecting skeletal development which in some way makes the hip susceptible to Perthes' disease at a later date.

Abnormalities, Multiple↗
PubMed1979

[Echo-angiocardiographic correlations in congenital abnormalities of the mitral valve (author's transl)].

Echocardiographic findings satisfactorily compared with angiocardiographic data in six infants affected by congenital abnormalities of the mitral valve. Peculiar echocardiographic features were as follows: a) mitral stenosis: reduced E-F slope of the anterior mitral leaflet, paradoxical diastolic movement of the posterior leaflet, enlargement of the left atrium; b) "parachute mitral valve": small, dysmorphic, stiff mitral valve, with an extra echo projecting between those of the two leaflets; c) "cor triatriatum": enlarged left atrium whose cavity is divided in two portions by an extra echo; d) "hypoplastic left heart syndrome": the mitral leaflets are thin, short. The ventricular cavity and the diameter of the aorta are small; the right ventricle and the pulmonary artery are on the contrary markedly dilated.

Angiocardiography↗
PubMed1978

Management of congenital ear abnormalities.

Congenital malformation of the ear has a complex origin and the possibility of hereditary, viral and toxic etiologies. The authors require audiometric evaluation, using the objective brain stem evoked response in young children, and polytomography of the middle and inner ears in all patients with atretic external auditory canals. Unilaterally atretic ear canals can be repaired electively at the discretion of the family and the patient, while in bilateral cases reconstruction is ideally done at approximately age four years. Regular follow-up is recommended to be certain that no cholesteatoma develops medial to an atretic external ear canal. The authors propose a working classification for congenital malformation of the ear. In the author's series of 35 operations for the repair of congenital ear abnormalities, 55% were improved to adequate levels of hearing without the use of a hearing aid. Eight exemplary cases and comments are presented.

Adolescent↗
PubMed1979

Congenital abnormalities induced by heterologous antisera directed against rat kidney glycoproteins isolated by concanavalin A affinity chromatography.

It has been well established that heterologous antisera against whole rat kidney homogenate when injected into pregnant rats during the embryonic organogenetic period may induce abnormal embryonic development. Attempts were made to isolate the active components from soluble rat kidney extract by ammonium sulfate precipitation, anion-exchange chromatography, and concanavalin A-Sepharose 4B affinity chromatography. The glycoproteins isolated were capable of stimulating the production of potent rabbit antisera. When injected ip into the 9th day pregnant rats, these antisera induced embryonic death, congenital abnormalities, and fetal growth retardation. Eighty-four surviving fetuses were examined, all of them were malformed. The most frequently observed congenital defects were anophthalmia and microphthalmia. Attempts were made to analyze the glycoprotein fraction by discontinuous and sodium dodecyl sulfate (SDS)-polyacrylamide gel electrophoresis. The results indicate that the glycoproteins were of high molecular weight and could be dissociated by SDS into a multitude of molecules or subunits. Although double immunodiffusion indicated that there were one major and two minor antigens in the glycoprotein fraction, attempts to identify the antigens as to their size by analytical gel electrophoresis have not been successful. Electron microscopic study seemed to suggest that the glycoproteins might tend to aggregate to form particulates. The underlying mechanism whereby the antisera to these glycoproteins induce abnormal embryonic development is not understood. The hypotheses to explain the possible sites of teratogenic antibody interaction are discussed.

Animals↗
PubMed1979

The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor.

Wilms' tumor was diagnosed in two children each of whom has an identical twin. In one of the pairs of twins the aniridia syndrome with psychomotor retardation was present in both children, but Wilms' tumor was found in only one. In the other twins hemihypertrophy as well as Wilms' tumor were identified in one child, whereas neither of these abnormalities was present in her twin sister. These findings lend support to a hypothesis that the development of Wilms' tumor requires the occurrence of two successive mutational events, one of which may be a germinal mutation. The presence of aniridia, hemihypertrophy, or other associated congenital abnormalities may aid in distinguishing between hereditary and sporadic forms of Wilms' tumor.

Abnormalities, Multiple↗