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PubMed2006

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are at risk of pituitary dysfunction. Among the 40 studied patients, hypothalamo-pituitary (HP) axis abnormalities were found in 16 patients (40%), with endocrine dysfunction (n = 9) and/or abnormal HP MRI findings (n = 15). A normal HP axis on MRI was highly predictive of normal endocrine function. Of the 40 patients, 31 had additional abnormalities in the cranio-facial area (n = 26), the brain (n = 12), the vertebrae (n = 5), the limbs (n = 4), the heart (n = 7) and the kidney (n = 3). Six patients had syndromic associations: VACTERL (n = 4), CHARGE (n = 1) and RHYNS (n = 1) syndromes. Craniofacial and brain malformations were more common in patients with HP axis abnormalities than in patients with normal HP axis. Familial history of midline defects and/or consanguinity were found in 30% of patients. In conclusion, HP axis abnormalities are frequent in patients with CNPAS and justify MRI of the brain early in life and clinical evaluation to screen for patients with pituitary insufficiency. CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype.

Abnormalities, Multiple↗
PubMed1999

A congenital defect of the pericardium.

Ten patients with congenital defects of the pericardium were treated in Departments of Cardiac Surgery, Silesian School of Medicine in Zabrze and Katowice between 1989 and 1998. There were eight children and two adults, eight males and two females. In each case the pericardial defect was discovered intraoperatively during surgery for congenital heart defect. There were no cases with clinical symptoms that could be clearly related to the defect of the pericardial sac. In the case of a child with a complete absence of the left pericardial wall the heart was significantly rotated contrary to the defect. The final outcome of the congenital heart defect surgery was satisfactory in each case. An abbreviated historical review of the diagnosis and treatment of the pericardial defects is presented with special attention placed on therapeutic management. Surgical correction of pericardial defects is concluded to be justified in patients with clinical symptoms. In most cases pericardial defects are discovered intraoperatively, but when they are large the said defects do not require any treatment.

Adult↗
PubMed2003

Analysis of mortality decline along with age and latent congenital defects.

Mortality from congenital anomalies is inversely proportional to age after the age of 1 year. The theory of congenital individual risk explains this mortality decline. The overall aim of this study is to test whether the theory describes mortality decline for all diseases within the first year of life and after the age of 1. Mortality decline along with age was analyzed in five countries and for all causes of death. The theory of congenital individual risk describes well the real mortality decline for all diseases except malignant neoplasms after the birth. Decline of mortality is due to the dying out of the more impaired individuals. Mortality decline with the first power of age results from the selection before the birth. It is dominant and the frequency of defects decreases proportionally to the value of individual risk of death. In the case of identically probable defects, the selection does not occur and mortality declines with the square of age. Congenital defects were also identified as a cause of death in the case of infectious diseases occurring before the age of 10. Mortality from malignant neoplasms is age-independent within the age period 1-20 years and, contrary to all other diseases, no small subpopulation with a significant individual risk was identified.

Aging↗
PubMed2000

Homocysteine inhibits retinoic acid synthesis: a mechanism for homocysteine-induced congenital defects.

Hyperhomocysteinemia is frequently associated with congenital defects of the heart and neural tube and is a suspected pathogenic factor in atherosclerosis and neoplasia. Results in the present report show homocysteine treatment disrupts normal development of avian embryos; and this effect is prevented by retinoic acid. Based on this, we hypothesize that homocysteine may exert its teratogenic effects by disrupting retinoic acid signaling during development. A reporter cell line transfected with a retinoic acid response element (RARE) linked to a lacZ reporter gene was used to identify the site of retinoid inhibition. Using this reporter cell line, we show that homocysteine inhibits the oxidation of retinal to retinoic acid with concentrations of homocysteine that are in the pathophysiological range (.05 to 0.5 mM). In contrast, homocysteine concentrations as high as 5 mM are unable to inhibit the induction of lacZ by retinoic acid. We show that cellular uptake of homocysteine is sensitive to the specific L-system transport inhibitor, bicycloheptane, and bicycloheptane blocks the inhibition of retinoic acid synthesis by homocysteine, demonstrating that this inhibition occurs intracellularly. These results suggest that homocysteine-induced congenital defects are due to the specific ability of homocysteine to inhibit conversion of retinal to retinoic acid.

Abnormalities, Drug-Induced↗
PubMed1976

Recurrent meningitis and labyrinthine gusher, related to congenital defects of the labyrinthine capsule and stapes footplate.

A congenital defect in the bony footplate of the stapes is now known to be a point of lowered resistance to extension of bacterial middle ear suppuration to the vestibule and thence to the meninges. Tomographic demonstration of the congenital pathologic condition of the ear permits the surgeon preoperatively to chart his surgical course. Despite antibiotic and chemotherapy, recurrent meningitis remains a serious disease as manifested by the death of two of the patients reported. The capacity for surgical correction of the congenital defect is manifested by one of our patients who has been free of meningitis for more than two years after surgery. If a congenital defect is considered in each case of recurrent meningitis, it is believed the mortality of this serious disease can be reversed.

Adult↗
PubMed1993

Congenital defects of sheep.

With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

Animals↗
PubMed1966

Why search for congenital defects?

The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the "Central Registry" method, and should command a due proportion of health resources directed towards congenital malformation research.

Adolescent↗
PubMed1981

Congenital defects of squirrel monkeys (Saimiri sciureus).

Nine congenital defects were seen in six animals during necropsies of 27 aborted or stillborn and 25 neonatal squirrel monkeys (Saimiri sciureus) during a two-year period. The defects were left diaphragmatic hypoplasia with herniation; right renal aplasia in conjunction with a right cleft lip and primary palate; supernumerary left kidney; skeletal defects, hydrocephalus, and thyroid anomalies consistent with the campomelic syndrome; atresia ani; and ultimobranchial gland remnants. The high incidence of congenital anomalies (4.9% of births and 11.5% of nonsurviving births) is consistent with a previous report of congenital defects in squirrel monkeys.

Animals↗
PubMed1993

Case-control study of congenital defects and parental employment in health care.

Health care workers may be occupationally exposed to known and suspected teratogens including viruses, anesthetic gases, sterilants, mercury, and x-radiation. To assess the risk of congenital defects among offspring of health care workers, we analyzed parental occupational histories for 4,915 case babies with congenital defects, registered during the years 1968-1980 by the Metropolitan Atlanta Congenital Defects Program (MACDP) registry, and for 3,027 control babies born without defects during the same period. Offspring of mothers employed in a nursing occupation during the periconceptional period had a modest excess risk of having at least one congenital defect (relative risk [RR] = 1.42; 95% confidence interval [CI] 1.06-1.88); the offspring were at statistically significant increased risk of having anencephaly or spina bifida (RR = 2.00; 95% CI 1.01-4.30), coarctation of the aorta (RR = 2.06; 95% CI 1.10-3.82), genital system defects (RR = 1.61; 95% CI 1.03-2.53), and urinary system defects (RR = 3.43; 95% CI 1.41-8.34). These associations were not confounded by maternal age, education, or alcohol consumption. Offspring of mothers employed in administrative or clerical jobs in the health care industry also had a modest excess risk of defects (RR = 1.35; 95% CI 0.96-1.90), including a statistically significant excess risk of limb defects. We also found associations between neural tube defects and potential exposure to anesthetic gases and to x-radiation, but each association was based on only three case babies of potentially exposed parents. We found no associations between defects and paternal health care employment, except for a few individual defects, and these were based on small numbers of exposed subjects. Only one of five previous studies reviewed found an increased risk of congenital defects among offspring of nurses, but three of the four negative studies had substantially smaller sample sizes than the present study. Detection bias may be a possible explanation for the apparent excess risk of certain defects among offspring of nurses.

Abnormalities, Drug-Induced↗
PubMed2006

[Body stalk anomaly--a case report on a rare congenital defect].

INTRODUCTION: A body stalk anomaly is a rare congenital defect. The anomaly is one of the anterior abdominal wall defects. It is characterized by severe clefts of the abdominal wall with absence of or very small, umbilical cord. CASE REPORT: We report on a patient in the 21st week of gestational age with the ultrasonographic findings of multiple fetal anomalies including a singular umbilical artery and an ahydramnion. She was sent to hospital for termination of the pregnancy. The karyotype was normal (46 XX). Ultrasonographic evaluation of the fetal anterior abdominal wall was impossible due to ahydramnion. Clinical examination showed an omphalocoele with herniation of the stomach, the small intestine, the liver and the spleen. A very short umbilical cord was observed which was attached to the omphalocoele. The lower limbs were deformed. Furthermore, anal atresia with an extroverted coele was found. Autopsy confirmed the clinical diagnosis of a body stalk anomaly. DISCUSSION: It is important to distinguish a body stalk anomaly from other types of anterior abdominal wall defects because of their prognosis and an appropriate medical management. A body stalk anomaly is a sporadic defect and not associated with chromosomal abnormalities. This congenital defect is invariably lethal.

Abdominal Wall↗
PubMed1988

Congenital defects and work in pregnancy.

The risk of congenital defect was examined in 47,913 pregnancies of women employed for 15 hours a week or more at time of conception. The rate of defects of all types per 1000 births in this series was 25.0; 1.8 from defects classified as chromosomal (group A), 10.8 as developmental (group B), and 12.5 as musculoskeletal (group C). Some evidence of an excess in the risk ratio (p less than 0.05) was found in the services sector and in four occupations--agriculture and horticulture (2.61), telephone and postal clerks (1.74), a miscellaneous group of service jobs (1.68), and receptionists and information clerks (1.47); excesses of lower statistical significance (p less than 0.1) were found in those engaged in plastics and rubber manufacture (2.02) and in child minders (1.84). There were two cases of tracheo-oesophageal fistula--a rare defect--among eight defects (1.32 expected) in agriculture and horticulture. Overall, the distribution of risk ratios in the 60 occupations examined was not significantly heterogeneous. Analysis of chemical exposure profiles for each occupational group showed no evidence of any increased risk, perhaps due to lack of sensitivity and discrimination in this method of exposure estimation. In 152 pregnancies of doctors and nurses who had administered antineoplastic drugs in the first month eight defects, miscellaneous in type, were observed compared with 4.05 expected (p = 0.05). Special study of musculoskeletal defects and work demands showed some evidence of an association with a long working week (greater than or equal to 46 hours) but no other ergonomic factor. With these few exceptions the survey failed to identify appreciable risk of congenital defect related to occupation.

Anesthetics↗
PubMed1995

[Congenital defects as a cause of infant mortality in Zielona Góra province in 1987-1992].

A total of 1278 children with congenital defects born in Zielona Góra Province between 1987 and 1992 were studied. Of this group, 315 children (24,6%) died. Congenital defects were responsible for 38.1% of these deaths and were the main cause of late infant mortality. Congenital heart defects were the most frequent cause of death. Two hundred and ten (66%) of all of the deaths occurred in the neonatal period. Mortality from congenital defects among low birth weight neonates was twice the overall rate.

Abnormalities, Multiple↗