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PubMed1976

Multiple congenital defects associated with trisomy for long arm of No. 4.

The clinical and cytogenetic findings of a male infant with multiple congenital anomalies and trisomy for the distal third of the long arm of No. 4 are described. The abnormal chromosome was inherited from the mother who had a balanced translocation, t(4;9)(q31;q34). Trisomy for the long arm of No. 4 has previously been described in only 3 patients.

Abnormalities, Multiple↗
PubMed2000

[Prenatal diagnosis of congenital defects in the Czech Republic in 1998].

OBJECTIVE: Presentation of prenatal diagnostics results in the year 1998 and their comparison with the period 1990-1997. DESIGN: A retrospective study. SETTING: Subchair of Medical Genetics, Postgraduate Medical Institute, Vídenská 800, Praha 4, Czech Republic. METHODS: Processing of prenatal diagnostics data obtained from departments of Medical Genetics from all the Czech Republic. The comparison with livebirths with congenital malformation was made possible using the data from Statistics Reports "Congenital malformation in a foetus/newborn" which are filed in the Institute of Health Information and Statistics. For a comparison on the international level the data published by the International Clearinghouse for Birth Defects Monitoring Systems were used. RESULTS: 553 foetuses with congenital malformation were diagnosed in 1998. In the same year, 406 pregnancies were terminated from this reason. Totally, 445 particular malformations were found in the above mentioned foetuses. Most often, inborn chromosomal aberrations (and Down Syndrome especially) were detected. Down Syndrome itself was diagnosed in 101 cases, out of which in 98 cases the pregnancy was terminated. Taking into account 61 cases of Down Syndrome in livebirths in 1998, the sensitivity of prenatal diagnostics of this defect is 61.64%. Finally, a comparison of our results with data from different congenital malformation registers all over the world was made. CONCLUSION: An increase of the prenatal diagnostics of congenital malformation as well as its improvement has taken place in the Czech Republic in last years. This improvement is accompanied by an increase of the number of prenatally diagnosed cases and also by an increase of the number of terminated pregnancies as its consequence. An incidence of severe congenital malformations therefore decreases in livebirths. An efficiency of prenatal diagnostics is fully comparable to the results published by major congenital malformation registers worldwide.

Adult↗
PubMed2001

[Congenital defects in a coal mining region].

OBJECTIVE: To assess the relationship between the environmental impact of coal mining and its effects in the reproductive health of populations living in small towns of Southern Brazil by studying the frequency of birth defects in newborns. METHODS: The assessment of potential reproductive hazards in the population was based on an evaluation of hospital records of 10,391 newborns within a 10-year-period (from 1985 to 1995). Eight major birth defects were selected and their frequencies at birth was analyzed and compared to observed frequencies registered by the Latin American Study of Congenital Malformation (ECLAMC). RESULTS/CONCLUSIONS: The results show no increase in the frequencies of the birth defects studied, and rule out the existence of an increased teratogenic risk in this region. It's noteworthy that the small number of children evaluated allows identifying tendencies that can only be confirmed in larger population studies.

Adult↗
PubMed1983

Rotationplasty of the lower limb for congenital defects of the femur.

The operative technique for combined fusion of the knee and rotationplasty of the limb in the management of congenital deficiency of the femur is presented. The technique described allows earlier definitive prosthetic fitting of a child with proximal femoral deficiency; it has reduced the number of operative procedures needed to obtain the optimal function from that deficient limb; and it has enabled these procedures to be performed at an earlier age. The technique differs from those previously described and represents a significant improvement in management of the patient with femoral deficiency.

Arthrodesis↗