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Biomedical subjects

P Dodinval

Publications and source records attributed to P Dodinval.

At least 37 records · Page 2Linked to original sources
PubMed1985

[Fetal or neonatal autopsy and genetic counseling. Experience of the Human Genetic Service of Liège].

From January 1976 to June 1984, 308 necropsies were performed on neonates and fetuses of various gestational age, mainly coming from hospitals of the province of Liege. 41% of the necropsied infants have at least one malformation and 34% of the malformed show multiple birth defects. There were 17 anatomo-clinic diagnoses of chromosomal aberrations but only 12 cases were confirmed by caryotype, for practical or technical reasons. One third of the parents of the necropsied infants came for genetic counselling with a high recurrence risk in 13% of the advices. For further improvement of the possibilities of diagnosis, we are pleading in favour of more frequent radiological and chromosomal fetal examinations. This must lead us to better convince obstetricians and neonatologists and get more favourable practical conditions to carry out the necropsies.

Abnormalities, Multiple↗
PubMed1984

[Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis].

The authors describe a dysmature female newborn, with multiple birth defects, who died soon after birth. At first polydactyly and hydrometrocolpos let think of a Kaufman syndrome, with autosomal recessive inheritance. But due to the presence of other malformations and since polydactyly is preaxial, the whole clinical and anatomical picture may be put into the frame of VACTERL association, mainly sporadic. Thus seemingly hydrometrocolpos and urogenital sinus have to be added, although rarely, to the other known defects of the VACTERL association.

Abnormalities, Multiple↗
PubMed1982

[Practical evaluation of some discriminant criteria for the dermatoglyphic diagnosis of twin zygosity].

In practice identical twins are sometimes to be distinguished from non identical on physical resemblance what is mainly subjective. Quantitative criterias combined into a simple formula would offer a quick, objective and practical tool. This brought us to elaborate a discriminant score based on numerical dermatoglyphic data either used alone or introduced into given mathematical expressions. To do so we retained 7 parameters or functions already utilized by other authors: total finger ridge count, a-d ridge count, generalized distance (delta 2) and discriminant functions, S, T, L and Z (see text). Other assays done when neglecting some of these parameters are easier to calculate but lead to less satisfactory discrimination between MZ and DZ twins.

Dermatoglyphics↗
PubMed1981

Fetal Krabbe leukodystrophy. A morphologic study of two cases.

Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-beta-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific inclusions are probably non-glial in nature, some of them could represent myelination glia.

Amniocentesis↗
PubMed1980

[Prenatal diagnosis of sex by determination of amniotic testosterone and FSH].

Among hormones which can be determined in the amniotic fluid in the mid-pregnancy period, testosterone and F.S.H. allow the best discrimination between sexes (Figure 1). Moreover, F.S.H. is clearly increasing during the 2d trimester of pregnancy in case of a female fetus. This is a quick and reliable method which uses a small quantity of amniotic fluid. Combined with chromosomal analysis, it increases the accuracy of the sex diagnosis and indicates a repeat amniocentesis if there is a discrepancy between karyotype and hormonal determinations.

Amniocentesis↗
PubMed1979

Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.

Two sibs with a rare phenotype of oligodactyly with metacarpal, carpal, radioulnar, and metatarsal synostoses and shortening of the forearms were born of healthy parents. Genetic counselling with regard to future children of one of these sibs was given on the assumption of an autosomal recessive inheritance, which is highly probable, judging from the other rare familial cases found in the literature.

Adult↗
PubMed1979

Facial asymmetries: problems in genetic counselling.

The nosology of the facial asymmetries was studied and illustrated by 4 personal cases: two of incomplete oculo-auriculo-vertebral dysplasia, one of probable Saethre-Chotzen syndrome and one of Klippel-Trenaunay-Weber syndrome. Hints for the recurrent risk counselling are given.

Adult↗
PubMed1979

[The use of Bayes theorum in genetic counseling in cases of Duchenne muscular dystrophy].

Bayes' law or theorem (1763) allows the expression of a posterior probability of heterozygosity for an X-linked gene, from two different kinds of information, namely: 1. the prior probability for the mother of an isolated case of Duchenne muscular dystrophy: --to be a carrier by mutation of the gene in one of her parents, or by segregation from earlier generations; --to be herself the origin of the mutation; 2. conditional probabilities, taking into consideration the existence of this woman's normal brothers, sons or maternal uncles and the serum creatine-kinase levels in the possible carrier(s) of the mutant gene. In some situations, these calculations give a recurrence risk which is lower than expected at first and allows sometimes to reassure anxious consultants on their genetic risk.

Bayes Theorem↗