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PubMedDate not supplied

Study of 1,26,266 consecutive births for major congenital defects.

Retrospective study was carried out in 1,15,851 consecutive births in five hospitals, and prospective study of 10,415 consecutive births in one hospital of West Bengal. The overall frequency of congenital defects was 4.42/1000 live births. Incidence of NTD and talipes was predominant in rainy season, whereas cleft palate with/without hare lip had highest frequency during winter. Incidence of these anomalies decreased with increasing birth order. The frequency was noted to decline with increasing maternal age, 21-25 years age group had maximum number of malformed babies. Sex ratio and religion, however, did not have any correlation with the incidence of these malformations. When comparison was done between urban and rural population no statistically significant variation was observed.

Congenital Abnormalities↗
PubMed1984

Failure to demonstrate mutations affecting protein structure or function in children with congenital defects or born prematurely.

An effort has been made to confirm the report [Dubinin, N. P. & Altukhov, Y. P. (1979) Proc. Natl. Acad. Sci. USA 76, 5226-5229] that children born prematurely or exhibiting congenital defects can be shown to exhibit relatively high frequencies of rare (nonpolymorphic) electrophoretic variants of proteins and that a large proportion of these variants are due to mutation in either the father or the mother. In a series of 178 children who were comparable with those described in the earlier report, we failed to encounter a high frequency of these variants in some 5341 determinations involving 45 proteins, nor were any mutations observed. Data from 1583 determinations of enzyme activity on a subset of the panel of proteins were also unremarkable. We are thus unable to confirm the earlier report.

Blood Proteins↗
PubMed1996

Additional congenital defects in anorectal malformations.

UNLABELLED: From 1974 until 1995 a total of 264 (141 male, 123 female) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before. CONCLUSION: Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.

Abnormalities, Multiple↗
PubMed1979

[Surgical treatment of congenital defects of the jejunum and ileum in infants].

The examinations were based in the material of the Clinic of the Children's Surgery of the M.A. in Lublin of 16 newborns and babies operated because of the congenital defects of the jejunum and ileum. Among the patients there were 9 with the intestinal occlusion or with the stenosis, 5 with the diverticulum Meckel's or too long existing umbilical duct and 2 with the foramen of the mesentery. The results of the treatment of these defects dependent on the method of the operation. Good results of the operation were obtained by opening of the abdominal cavity with the medial incision, resection of the dilated intestine, funnel-shaped stenosis of the afferent ansa and anastomosis of one end to end or the end to back.

Constriction, Pathologic↗
PubMed1986

Pathogenesis of congenital defects associated with Turner's syndrome: the role of hypoalbuminemia and edema.

Studies of prenatal fetuses with 45,X Turner syndrome have allowed for plausible hypotheses of how their pitting edema may lead to production of the associated congenital defects found in the condition. Hypoalbuminemia in these fetuses which are only about one-sixth the levels found in newborns and one-third the level in "control" fetuses may explain the edema. Malformation of the ear, hairline, neck webbing, nipples, coarctation, nails and horseshoe kidney can be related to embryonic and fetal deformation from edema.

Abnormalities, Multiple↗
PubMed1998

Atypical rigid form of Huntington's disease: a case with peripheral amyotrophy and congenital defects of a lower limb.

We describe a patient showing an atypical phenotype of Huntington's disease (HD), including prominent generalized dystonia, peripheral amyotrophy of the legs with an inverted champagne bottle configuration and pes equinus. The patient also had congenital defects of the lower left leg. Chorea and psychiatric symptoms were not prominent. Polymerase chain reaction assessment revealed 51 CAG repeats in gene IT 15. Magnetic resonance imaging of the brain demonstrated mild atrophy of the pons and cerebellum, and hyperintensity of the transverse pontine fibers and neostriatum on spin-echo images. Peripheral amyotrophy in this case might have resulted from axonal degeneration related to neuronal damage in the central nervous system, although at the present time we cannot confirm it as a new HD phenotype.

Adult↗
PubMedDate not supplied

Congenital defects among the offspring of epileptic fathers: role of the genotype and phenytoin therapy in a mouse model.

The progeny of coisogenic C57BL/6J mice homozygous for either the tottering (tg/tg) or wildtype (+/+) allele were examined to determine the role of parental seizure disorders and paternal anticonvulsant drug therapy on the incidence of congenital malformations. Pregnancy outcomes in which one, both, or neither of the parents had an epileptic genotype were compared for various maternal and fetal reproductive parameters. In addition, the progeny from phenytoin-treated male tottering (tg/tg) mice with a spontaneous seizure disorder and from control untreated (+/+) male mice were similarly examined for evidence of congenital defects. The results of these experiments suggest that neither the parental genotype with respect to seizure disorders nor paternal anticonvulsant treatment with phenytoin is responsible for an increased incidence of congenital malformations.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Complete spectrum of the varicella congenital defects syndrome in 5-year-old child.

Chickenpox in the pregnant woman occasionally leads to infection and teratogenesis of the early to midgestational embryo. We describe the developmental assessment and clinical management of a 5-year-old girl with classic varicella congenital defects syndrome. This patient is unique with respect to (1) a generally favorable outcome in spite of the severity of her anomalies involving the eyes, limbs and skin, (2) a completely normal evaluation of her immunologic status and (3) a serologically documented herpes zoster infection at age 41 months.

Abnormalities, Multiple↗
PubMed2006

[Characteristics of neonates with and without a single umbilical artery. Analysis of two consecutive series of neonates with and without congenital defects].

BACKGROUND AND OBJECTIVE: The implications of the presence of a single umbilical artery (SUA) are unknown. Although most articles are based on selected samples, they suggest a relationship between SUA and malformations. Consequently, prenatal detection of SUA causes concern, since there are no definitive guidelines that can be followed after identification of this abnormality. The objective of this study was to comparatively analyze SUA in two series of consecutive births, with and without congenital defects. PATIENTS AND METHODS: A total of 19,909 cases and 19,148 controls from the Registry of the Spanish Collaborative Study on Congenital Malformations were studied. The variables analyzed were sex, birth weight, length, occipito-frontal circumference, gestational age, prematurity, delivery by caesarean section, umbilical cord length, placental weight, survival at 72 hours, primiparity, oligohydramnios, and polyhydramnios. Calculations included relative frequency, odds ratios (OR) and 95 % confidence intervals, the chi-square test, Fisher's p-value, and Student's t-test. RESULTS: SUA was found in 2.29 % of cases and in 1.03 % of controls (p = 0.0000001). These figures showed secular variation due to improvements in prenatal diagnosis and interruption of some pregnancies. When cases with and without SUA were compared, those with SUA had lower values of somatometry at birth, umbilical cord length and gestational age and had a higher risk for oligohydramnios, polyhydramnios, caesarean section, and death in the first 72 hours. Among controls, the only differences were a shorter umbilical cord and a higher frequency of oligohydramnios among infants with SUA. CONCLUSIONS: The results suggest that certain malformations associated with SUA could cause some of the differences among cases. Shortening of the umbilical cord and oligohydramnios could be related to SUA, as these abnormalities were found in both cases and controls. Comparison of cases and controls suggests that the etiopathogenesis of SUA could differ in the two groups.

Abnormalities, Multiple↗