Biomedical subjects
A Czeizel
Publications and source records attributed to A Czeizel.
Prenatal diagnosis policy in neural tube defects.
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Familial situs inversus and congenital heart defects.
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Reproductive choices in hemophilic men and carriers.
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Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance.
Three members of a nuclear family were affected by split hands and feet or syndactyly, obstructive urinary anomalies and spina bifida or diaphragmatic defect.
Genital anomalies of males (GAM-complex).
Between 1973-1982, the Hungarian Congenital Malformation Registry recorded 165 male index patients with two or more genital anomalies of the male (GAM) without other abnormalities. Of 17 'severe' GAM cases with penile or perineal hypospadias and other anomalies of external genitalia, clinical examination detected a recognizable syndrome in all but one case. A family study of 70 'mild' GAM cases with coronal or glandular hypospadias, undescended testes, and congenital inguinal hernia with or without minor genital anomalies, showed that 8.7% of index patients had fathers and brothers with GAM-type anomalies. The mild GAM cases seem to be a monotopic developmental field defect, the so-called GAM-complex.
International Commission for Protection Against Environmental Mutagens and Carcinogens. ICPEMC working paper no. 4. Mutation surveillance of sentinel anomalies in Hungary, 1980-1984.
Sentinel phenotypes are indicators of germinal dominant gene mutations. 23 sentinel abnormalities and 2 sentinel childhood tumours (bilateral retinoblastoma and Wilms' tumour), i.e., 25 sentinel anomalies of autosomal dominant origin were selected from the material of the Hungarian Congenital Malformation Registry, 1980-1984. Furthermore, cases of sentinel childhood tumours from the Hungarian Childhood Tumour Registry and some extra notifications of sentinel abnormalities were also included. Experts examined index patients and their parents in order to confirm or exclude nosological diagnosis, to separate sporadic and familial cases, to obtain environmental history and to give genetic counselling. The revised total observed prevalence of 25 sentinel anomalies was 3.80 per 10,000 livebirths. Only 12% of cases examined were familial. According to the statistical power calculation, 47,500 livebirths are needed to detect a doubling of mutation rate with probabilities of type I and II errors of 0.05 level. In Hungary the average number of yearly births was 135,548 in the study period.
Genetic markers among three population groups of Hungary.
Three ethnic groups from Hungary, the general population of Hungary, the Matyo and the Gypsies, were examined with respect to the genetic markers PGP, GLO1, GPT, ACP1, ESD, PGD, ADA, AK1, PGM1 subtypes, C3, BF, HP, GC subtypes, PI, TF subtypes and AMY2. Significant variations were noted for the gene frequencies of GPT and PGD between the Hungarian and Matyo sample. The Gypsies deviate in the systems of GLO1, ACP1, ADA, C3, BF and HP from the Hungarians.
Biliary dysgenesis and congenital cardiovascular malformation association.
In a population-based unselected registry material involving 1038 unidentified multiple congenital abnormalities there were 20 cases with a combination of biliary dysgenesis and congenital cardiovascular malformations. One subgroup contained 7 cases where the above combination was associated with other major congenital abnormalities. Another subgroup contained 13 cases with this combination of congenital anomalies. The family study detected two sib-occurrences. One of them was a typical manifestation of Alagille syndrome. There are probably some other characteristic combinations of these two types of congenital anomaly, e.g. ventricular septal defect and extrahepatic biliary taresia. This group of congenital anomaly combination of heterogeneous origin has been named biliary dysgenesis-congenital cardiovascular malformation association.
Polycystic kidney and cardiovascular malformation association.
A population-based unselected registry material involving 1,038 unidentified multiple congenital anomalies had 16 unrelated cases with polycystic kidney and congenital cardiovascular malformation. The syntropy index of this combination was 4. The family study detected one specific and two half-concordant sib occurrences. The so-called "polycystic kidney and cardiovascular malformation" association with variable expression may be a MCA entity.
A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin.
A new "postaxial polydactyly-progressive myopia" syndrome of autosomal dominant inheritance is delineated on the basis of nine affected persons in four generations of one family.
A joint international study on the epidemiology of hypospadias.
A descriptive epidemiological study of hypospadias has been made utilizing data from seven malformation surveillance systems round the world: Denmark, Hungary, Italy, Mexico, South America, Spain, and Sweden. The joint material represents 8,122 boys with hypospadias, 7,419 of which were "isolated", that is, with no other known malformation except those obviously related to hypospadias (undescended testis, hydrocele, scrotum anomalies). The main study was based on the infants with isolated hypospadias, but an analysis of multimalformed infants with hypospadias was also made. The registered birth prevalence of isolated hypospadias varied much among the seven programs. For the years 1980-1981, the lowest recorded birth prevalence was 0.26 (Mexico) and the highest, 2.11 (Hungary). An analysis of ascertainment was made for three programs: Denmark, Hungary, and Sweden. While some uncorrect registration of infants as hypospadiac were detected, a strong underascertainment of varying degree was seen. In Hungary and Sweden, where the highest birth prevalences were recorded, there was a 30-40% underascertainment of cases later operated on; in Denmark underascertainment was still larger. When correction was made for underascertainment, the Danish and Swedish birth prevalences of isolated hypospadias were very similar. No information on ascertainment was available for the other systems, but it seems very unlikely that the low birth prevalences recorded in Mexico and South America can be solely explained by underascertainment. Therefore, it appears that true differences in the prevalence at birth of hypospadias do exist. There are no indications that the different birth prevalences depend on inclusion or exclusion of mild (distal) forms of hypospadias. There is an apparent inverse correlation between fertility in a population (estimated from mean parity in control women) and the birth prevalence of isolated hypospadias. Within each program geographical variations in birth prevalence could be seen, but the interprogram variation was larger than the intraprogram one. There is an effect of maternal age and parity on the intensity ratio of isolated hypospadias. This effect varies among programs. The variability for mothers under 20, parity 1, seems to be inversely related to the proportion of delivered women belonging to that age class. With increasing maternal age, especially within parity 1, an increased hypospadias intensity ratio is seen. Infants with isolated hypospadias show a lower birth weight and to some extent also a shorter gestational length than do controls.(ABSTRACT TRUNCATED AT 400 WORDS)
Increased birth prevalence of isolated hypospadias in Hungary.
The birth prevalence of simple (isolated) hypospadias increased significantly in Hungary up to 1978. Since then, although fluctuating, it has remained at this higher level.
Self-poisoning as a model for the study of mutagenicity and teratogenicity of chemicals in human beings.
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A recent aetiological study on facial clefting in Hungary.
A case-control epidemiological and family study was organized of 2024 index patients born between 1970 and 1976 affected by isolated cleft lip +/- cleft palate, isolated posterior cleft palate and multiple congenital abnormalities including facial clefting and of their matched control cases. The specific rate of affected parents and sibs was 2.4% and 4.2% in the isolated cleft lip +/- cleft palate sample, while 2.2% and 3.2% in the isolated posterior cleft palate group. The proportion of polygenic liability was about 77 +/- 8% in isolated cleft lip +/- cleft palate cases. Among teratogens, the triggering impact of certain anticonvulsants was confirmed.
A multidimensional threshold model for multiple congenital abnormalities.
Analysis of the data of 2.762 infants with "unidentified" (i.e., no identified as dysmorphological entities) multiple congenital abnormalities from the Hungarian Congenital Malformation Registry, 1970-1976 showed that the majority of congenital abnormalities in newborns with multiple congenital abnormalities was not due to random combinations. The ratio of expected random combination and observed causal effect was 1: 6, 1: 225-1: 14,000 and 1: 2.10(6) in two, three, four, and five or more congenital abnormalities, respectively. Our multidimensional threshold model supposes specified liabilities for each congenital abnormality, and the correlation structure of these liabilities explains nearly all associations of congenital abnormalities in unidentified multiple congenital abnormalities. According to this hypothesis, the expected and the observed occurrences do not differ significantly either in the sum or in the various possible threefold associations of congenital abnormalities. The biological reasons for the phenomenon are being studied.
Endpoints of reproductive dysfunction in an experimental epidemiological model: self-poisoned pregnant women.
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Case-control surveillance system of congenital anomalies in relation to occupational exposures.
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