Abnormal anatomy at the thoracic outlet is frequent in patients operated on for thoracic outlet syndrome (TOS). The present study was designed to find out the rate of thoracic outlet anomalies in the general population.
Fifty cadavers representing a general population were subjected to a total of 98 meticulously performed cervical dissections to ascertain the frequency of congenital anomalies in the thoracocervicoaxillary region.
During the 98 cervical dissections, 62 instances of abnormal anatomy of the thoracic outlet were found, and fully normal anatomy was found in 36 cases. Of the total 69 abnormalies, 66 could be classified according to Roos: 37 were type 3 abnormalities, 15 were type 5, 9 were type 11, and there was 1 each of type 4, type 6, type 7, type 9, and type 10 abnormalities. The remaining 3 abnormalities did not fit into Roos' classification. Only 10% (5/50) of the cadavers had a bilaterally normal anatomy.
The results demonstrate that abnormal structures, such as congenital bands in the thoracic outlet, are more common in the general population than had previously been described. We suggest that fibrous bands confer a predisposition for TOS following a certain degree of stress or injury.
BACKGROUND: Cancer and birth defects may share factors that influence risk. A malformation may involve physiologic changes or changes in lifestyle that might affect cancer risks. METHODS: In Norway and Sweden, the population-based medical birth and cancer registries were linked to identify subsequent cancer occurrence in children with birth defects and among their parents and siblings. Altogether, 5.2 million children and their families were included. The standardized incidence ratio (SIR) served as a measure of relative risk. RESULTS: There was an increased overall cancer risk in individuals with birth defects in the two countries [SIR, 1.7; 95% confidence interval (95% CI), 1.6-1.9], and the increased risk remained into early adulthood. Individuals with malformations in the nervous system were at increased risk of developing cancer in the brain/nervous system (Norway: SIR, 58; 95% CI, 41-80; Sweden: SIR, 8.3; 95% CI, 4.0-15), individuals with Down syndrome were at an increased risk of leukemia (Norway: SIR, 36; 95% CI, 26-48; Sweden: SIR, 36; 95% CI, 28-46), and there was an increased overall cancer risk for individuals with multiple birth defects (Norway: SIR, 5.5; 95% CI, 3.3-8.7; Sweden: SIR, 3.6; 95% CI, 2.2-5.4). There was no increased overall cancer risk among mothers (SIR, 1.0; 95% CI, 1.0-1.0), fathers (SIR, 1.0; 95% CI, 0.9-1.0), and siblings (SIR, 1.0; 95% CI, 0.9-1.1) of children with birth defects. CONCLUSIONS: We observed an increased overall cancer risk in individuals with birth defects. The highest risks were seen for individuals with malformations in the nervous system, Down syndrome, and multiple defects. No increased overall cancer risk was seen among their parents or siblings.
We analyzed data from a survey of occupational and other factors and pregnancy outcome to assess the effects of cigarette, alcohol, and coffee consumption. There was no evidence of an association between any congenital defect and smoking. Results for alcohol and coffee consumption were largely negative, but there was a weak association with musculoskeletal defects in babies born to women who drank one or more alcoholic drinks a day.
To assess the quality and appropriateness of Canadian Congenital Anomalies Surveillance System (CCASS), a system based on routine hospital admission/separation records, we compared the congenital anomalies ascertained by CCASS for the period of January 1, 1990 to December 31, 1993 in the province of Alberta with corresponding figures obtained from Alberta Congenital Anomalies Surveillance System (ACASS), a specific-purpose surveillance program collecting information on congenital anomalies from multiple sources with mechanisms to evaluate diagnosis. Rates of congenital anomalies estimated by CCASS tended to be higher. Agreement between CCASS and ACASS depended on diagnosis: for the International Clearinghouse for Birth Defects Monitoring System standard categories of congenital anomalies (except for anomalies of abdominal wall), agreement usually exceeded 50%; for less clear-cut diagnoses, it was well below 50%. We conclude that routine medical records can be used for surveillance purposes for major congenital anomalies with clear-cut diagnosis.
A geographically limited cohort of Finnish children was followed from birth for seven years, and all congenital abnormalities were recorded and classified and special attention was given to the cumulative detection rate, and the time of detection of various defects. Of 3674 pregnancies 135 babies with or without defects were stillborn or died during the neonatal period. The remaining 3539 were followed up to seven years, when the percentage follow-up was 81.7%. Detailed information on 76 malformed livebirths registered in the neonatal period was available in 63 cases (82.9%). The diagnosis was found to be incorrect in 6 cases and additional defects were registered in 7 of these children. Additional congenital abnormalities detected in the follow-up study were divided into three groups: all congenital disorders or abnormalities with prenatal etiology (248 children), all congenital defects (111 of these 248) and structural malformations (31 of these 111). The cumulative detection rates in these groups increased with time and at the end of the study when the children were aged seven were 9.4%, 5.6% and 2.6%, respectively.
The aim of this study was to assess the frequency and type of minor physical anomalies in schizophrenic patients and their normal siblings.
Sixty adult patients with schizophrenia, 21 siblings of these patients, and 75 normal comparison subjects were assessed through use of an extended scale consisting of the Waldrop scale and 23 other minor physical anomalies.
Patients had significantly more minor physical anomalies than comparison subjects in all body areas tested and also more minor physical anomalies in total than their siblings. Hand, eye, and mouth minor physical anomalies best discriminated patients from comparison subjects. Siblings had significantly more minor physical anomalies than normal comparison subjects. Sixty percent of the patients and 38% of the siblings, but only 5% of the comparison subjects, had a higher rate of minor physical anomalies (i.e., six or more). With the exception of ear minor physical anomalies, no association was found between minor physical anomalies in the patient and sibling in the same family.
Higher levels of minor physical anomalies (especially in the eye, mouth, and hand/foot regions) characterize both schizophrenic patients and their normal siblings, but there is little similarity in these anomalies between patients and siblings in the same family. Thus, one or more genetic or shared environmental factors may increase the risk for development of both minor physical anomalies and schizophrenia in these families at large. Minor physical anomalies associated with schizophrenia are frequently found in, but are clearly not limited to, the head or facial region. The Waldrop scale identifies minor physical anomalies strongly associated with schizophrenia. Nevertheless, assessment of the new items clearly indicates that many additional minor physical anomalies are found in schizophrenic patients.
Comment In: Am J Psychiatry. 2000 Mar;157(3):48610698853
The purpose of this study was to estimate the prevalence of congenital anomalies in Quebec from MED-ECHO hospitalization records and from records of stillbirths. The results are first compared with those from the Canadian Congenital Anomalies Surveillance System (CCASS) for Quebec and Canada; then the data are examined by period and region of residence. The study results show that, for the congenital anomalies selected for the study, the prevalence rates measured for Quebec from the MED-ECHO data tend to be lower than the prevalence rates for Canada, whereas the rates estimated by CCASS are higher for Quebec than for Canada. The MED-ECHO data cover practically all Quebec births, compared with only 15% coverage by CCASS, and therefore provide a more accurate picture of congenital anomalies in Quebec.
To assess the association between interpregnancy intervals and congenital anomalies.
A retrospective cohort study on women who had 2 consecutive singleton births from 1999-2007 was conducted using a linked dataset from the Alberta Perinatal Health Program, the Alberta Congenital Anomalies Surveillance System, and the Alberta Health and Wellness Database. Interpregnancy interval was calculated as the interval between 2 consecutive deliveries minus the gestational age of the second infant. The primary outcome of congenital anomaly was defined using the International Classification of Diseases. Maternal demographic and obstetric characteristics and interpregnancy intervals were included in multivariable logistic regression models for congenital anomalies.
The study included 46,243 women, and the overall rate of congenital anomalies was 2.2%. Both short and long interpregnancy intervals were associated with congenital anomalies. The lowest rate was for the 12-17 months category (1.9%, reference category), and increased rates were seen for both short intervals (2.5% for 0-5 months; adjusted odds ratio, 1.32; 95% confidence interval, 1.01-1.72) and long intervals (2.3% for 24-35 months; adjusted odds ratio, 1.25; 95% confidence interval, 1.02-1.52). Statistically significant associations were also observed for folate independent anomalies, but not for folate dependent anomalies.
The risk of congenital anomalies appears to increase with both short and long interpregnancy intervals. This study supports the limited existing studies in the literature, further explores the types of anomalies affected, and has implications for further research and prenatal risk assessment.
Comment In: Am J Obstet Gynecol. 2014 Jun;210(6):498-924603097
As part of an ongoing analysis of limb deficiencies occurring among 1,213,913 consecutive livebirths in British Columbia during the years 1952-1984, all cases with deficiencies of the upper limbs were analysed with a view to identifying associated patterns of anomalies. This analysis resulted in seven subgroups. For each subgroup, incidence figures for cases with and without additional anomalies were calculated separately. The proportion of cases with additional anomalies varied markedly by subgroup. For example, 89% of cases with longitudinal defects of the radius had additional malformations, while only 28% of cases with transverse defects of the radius had other organ anomalies (chi 2 = 40.55; P