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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↗
PubMed1977

Congenital abnormalities associated with extrahepatic portal hypertension.

Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

Adolescent↗
PubMed1992

Unidentified multiple congenital abnormalities in twins. A population-based Hungarian study.

Of 1038 index patients with multiple congenital abnormalities, 34 were twins. This 3.3 per cent is higher than the Hungarian birth rate of about 2.1 per cent. However, after the exclusion of cases with congenital abnormality association of low birth weight newborn infants and with genital anomalies of the male, the twin birth rate was 1.8 per cent. Thus, the unidentified multiple congenital abnormalities have no common cause with twinning.

Abnormalities, Multiple↗
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↗
PubMed1992

Radiology of congenital abnormalities of the chest.

Radiologic imaging plays a critical role in the management of congenital abnormalities affecting the tracheobronchial tree, lung parenchyma, pulmonary vessels, and the mediastinum. Although procedures such as bronchoscopy, bronchography, and angiography may at times still be required, diagnosis is now usually established noninvasively using ultrasound, CT, MR imaging, or radionuclide imaging techniques. Earlier diagnosis, even in the antenatal period, is possible, thus allowing more prompt and effective treatment. Patients with congenital abnormalities that were previously fatal in infancy and childhood are surviving into adulthood. Clinicians and radiologists alike must now be able to recognize congenital disorders in patients who may have minimal or absent symptoms.

Bronchi↗
PubMed1978

Cigarette smoking during pregnancy and the occurrence of spontaneous abortion and congenital abnormality.

A multiple logistic regression analysis of 12,914 pregnancies and 10,523 live births, based on a mail survey of professional women in medicine, was carried out to determine the relationship between maternal cigarette smoking, and spontaneous abortion and congenital abnormality. After controlling for interfering variables (age, exposure to trace anesthetic gases, pregnancy history, and mailing response), a statistically significant increase in risk associated with maternal cigarette smoking was found for spontaneous abortions and congenital abnormalities. The risk of spontaneous abortion for the heavy smoker is estimated to be as much as 1.7 times that of the nonsmoker in certain risk groups. The risk for congenital abnormality for babies born of smoking mothers is estimated to be as much as 2.3 times that of the nonsmoker, depending on age, pregnancy history, and other factors.

Abortion, Spontaneous↗
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↗
PubMed1977

Incidence of some surgically correctable congenital abnormalities in South Australia.

A retrospective 5 yr survey of the incidence of some neonatal surgically correctable congenital abnormalities in South Australia has been carried out. Meaningful figures have been obtained for the incidence, in terms of the live birth rate, of obstructive malformation of the gastrointestinal tract, major abdominal wall and diaphragmatic defects, and some anomalies of the genitourinary system. In the main, the incidence of these malformations is similar to that reported from other centers. However the incidence of exomphalos and small bowel obstructions is lower in this series than in others, and the incidence of tracheoesophageal and anorectal anomalies appears to be slightly higher in South Australia than in Victoria. The incidence of diaphragmatic defects, excluding esophageal hiatus, is very similar to that ascertained by the perinatal mortality survey carried out by Butler and Claireaux.

Australia↗
PubMed1992

[The state of the immune system in children with congenital abnormalities].

As many as 618 children with different varieties of congenital developmental abnormalities were examined for the status of the immune system. Immunologic studies were carried out in 89 patients. They included the NBT test, determination of the content of T-, B- and O-lymphocytes, IgA, IgM and IgG. Morpho-histological studies of the spleen and thymus were performed according to the data of 529 autopsies. It has been established that 3/4 of cases with congenital developmental abnormalities are characterized by morphofunctional immune deficiency, which is more pronounced in multiple abnormalities (of chromosomal etiology in particular) as well in some systemic abnormalities, largely of the CNS.

Abnormalities, Multiple↗
PubMed1976

Congenital abnormalities and selective abortion.

The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

Abortion, Induced↗
PubMed1975

[Congenital abnormalities of the foot (author's transl)].

As with cases of hip-joint dysplasia, the sooner treatment of congenital abnormalities of the foot (hook feet, flat feet, sickle feet, club feet) is begun the better. In most cases the initial impulse will come from the doctor who has treated the child in the first days of life, i.e. the obstetrician or paediatrician. The paper recalls diagnostic criteria, in particular in distinguishing between slight cases and harmless temporary malpositions and describes the therapeutic possibilities. In case of contractions manual correction is usually sufficient, naturally under strict abservation and control, but whenever there is any restriction of the limit of movement in the contrary direction orthopaedic measures (correction and intermediate cast) will be necessary. Treatment, especially of club-footedness, demands considerable skill and patience both from the doctor and from the parents, the latter being ofter the greater problem. The necessity of long periods of treatment and even longer periods of observation cannot be sufficiently emphasized or repeated too often. Paediatricians can be of decisive influence because of their much more intensive cantact with the family.

Casts, Surgical↗
PubMed1976

The clinical diagnosis of major congenital abnormalities of the fetal central nervous system.

During the ten years between 1965 and 1974, 207 infants with a major congenital abnormality of the central nervous system were born at Mill Road Maternity Hospital, Liverpool; open neural tube defects occurred in 92 per cent of cases. Only cases of anencephaly were frequently diagnosed clinically before labour and this was rarely so for spina bifida alone. Only 11 patients (5-3 per cent) had previously been delivered of an affected infant. The routine screening of pregnant patients is briefly discussed.

Anencephaly↗