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Biomedical subjects

M Roussey

Publications and source records attributed to M Roussey.

At least 91 records · Page 5Linked to original sources
PubMed1986

[Evaluation of the incidence of anencephaly and spina bifida in Brittany (1975-1984)].

Brittany is celtic, like Ireland and Wales where the incidence of neural tube defects is raised. We searched the hospital files in Brittany for all live and still births, and terminations of pregnancy after prenatal diagnosis for the years 1975-1984. 225 cases of spina bifida and 210 cases of anencephaly were identified; giving an incidence of 0.60 per 1000 births for spina bifida and 0.56 per 1000 births for anencephaly. No seasonality was found for both malformations. Analysis of the sex ratio for anencephaly indicated significantly higher proportion of females to males. Maternal age in the affected group was similar to the normal population. Casual heterogeneity among neural tube defects patients was presumed because 14% of our cases had other congenital anomalies.

Abnormalities, Multiple↗
PubMed1986

[Anencephaly and diprosopy: 2 cases].

We have seen two cases of diprosopy associated with anencephaly in Brittany between 1975 and 1984. Diprosopy is a partial or total duplication of the face. It consists of the phenomenon of late division in the embryo of the cephalic portion of the neural plate between the 16th and the 18th days. This gives rise to an incomplete type of monozygotic twinning or a conjoint twin. There are several different forms of the organs that are duplicated. We have seen a case of diprosopos distomos dirhinos diophthalmos and a case of disprosopos distomos dirhinos triophthalmos. These two cases were associated with anencephaly, the second also having a spina bifida and a diaphragmatic hernia. One can explain the incidence of anencephalies in cases of diprosopies by the desturbance created by the latter on the embryological events that succeed it. The delay in nerve formation makes it impossible for the neural tube to close completely, and this is why sometimes the anencephaly is associated with spina bifida. In more general terms one can postulate that all conjoint twins that are, of course, monozygotic and monochorial can interfere with early enbryological development and increase the risks of failure of the neural tube to close.

Abnormalities, Severe Teratoid↗
PubMed1985

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.

An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.

Beckwith-Wiedemann Syndrome↗
PubMed1985

[Abnormalities of the neural tube in twins].

We have studied neural tube malformations in twins in order to research into the role of genetic and environmental factors. 12 pairs of twins in which one child had a neural tube defect were studied in Brittany, which is a Celtic country. We found no evidential agreement about the role each factor played. On the other hand there was an excess of twins in the siblings of those with neural tube defects, especially in the siblings of the mothers. There were more dizygotic twin mothers. Analysing the literature has made it possible for us to find a level of agreement of 7.5% for monozygotic twins and 4.6% for dizygotic twins. This last figure corresponds to the recurrence rate found after one case. The aetiological theories are reviewed. Among factors bringing about neural tube defects would seem to be the microenvironment of the uterus and the delay between ovulation and fertilization and implantation of the fertilized egg. Nutrition of the embryo and possible vitamin deficiencies could explain this inter-action between the mother and the fetus. If there is a genetic factor, it is more likely to be maternal than fetal.

Anencephaly↗
PubMed1985

[Neural tube defects (spina bifida and anencephaly) in Brittany].

We report a clinical analysis of 327 cases of Spina Bifida and 102 cases of Anencephaly in Brittany. Maternal age, parity, birth weight are not different from random population. Male rate is 0.40 for Anencephaly and 0.50 for Spina Bifida. The study of pregnancies shows an increased frequency of hydramnios during anencephaly pregnancies (0.34) and high rate of abnormalities during the pregnancy of Spina Bifida (0.34) or Anencephaly (0.86). Four mothers of Spina Bifida were taking valproic acid. Thirty children (0.07) had other malformations.

Abnormalities, Multiple↗
PubMed1985

[Female hemophilia. Apropos of a homozygote woman].

About one homozygote female for haemophilia, authors report circumstances where we can see an haemophilic female: lyonisation, chromosomal abnormalities of X chromosome, and homozygosis. They report the cases of literature.

Adult↗
PubMed1984

[Abnormalities of the central nervous system. Results of 3 years of genetic counseling at the University Hospital of Rennes: 192 cases].

The authors present their view of screening for central nervous system malformations in Brittany, having studied 192 case histories of subjects seen in the three years of genetic counselling in Rennes. Ultrasound usually manages to demonstrate anencephaly but all too often it fails to demonstrate spina bifida. Furthermore serum or amniotic fluid alphafetoprotein levels are often poorly interpreted. Microcephaly and encephaloceles occur rarely. The ultrasound diagnosis of the latter is easy whereas it is more difficult to diagnose microcephaly. The authors point out that there are familial forms of hydrocephaly and of holoprosencephaly which are not all that rare and fairly easy to diagnose so long as one remembers this very serious abnormality.

Academic Medical Centers↗
PubMed1984

[Significance of family photographs for genetic counseling in sex-linked heredity].

Authors remember the interest of the old photographs belonging to the families; the authors show how they can help the diagnosis; they can also help to assert the mode of inheritance; in few cases, they can find some female carriers with clinical signs; at last, infrequently, they prove the presence of the disease in a remote generation: so, they prove that the one case is not sporadic but is a familial case; this fact is very important for the genetic counselling of the females of this family. With some cases of the genetic counselling unit of Rennes, authors explain these various situations.

Abnormalities, Multiple↗
PubMed1984

[Toward a reduction of perinatal mortality].

Having studied perinatal mortality in Ille-et-Vilaine from 1972 onwards, the authors have come to realise how out of date the present method of working out perinatal mortality is because it only takes account of late intra-uterine death and early neonatal mortality of infants weighing at least 1 kilogram. The old method does not take notice of the changes that have occurred because of the progress that has taken place in obstetrics and neonatology such as the survival of an increasing number of newborn that weigh less than 1,000 grams or of the fact that the distinction between early and late neonatal death seems to be less and less valid. It does not add up to the total of "lost pregnancies". Furthermore, it does not make it possible to compare our figures with those published in foreign countries. The authors therefore feel that a new definition of perinatal mortality should be made, and this should satisfy the four following requirements: It should include on the one hand all fetuses and newborn that weigh at least 500 grams and on the other hand it should include early and late mortality and even mortality that occurs after the neonatal period. It should take into account the problem of false still-births. It should take into account fetal malformations and abnormalities that have called for therapeutic abortions because they are among the principal causes of perinatal mortality. It should study all the statistics and publications on this subject.

Abortion, Therapeutic↗
PubMed1983

[Case of early hydrocephalus in mucopolysaccharidosis type 1].

One mucopolysaccharidosis I-H (Hurler's Syndrome) found in 3 months infant, was complicated with an hydrocephalus at the age of 5 months. If macrocephaly is known in several genetic inborn errors of metabolism, specially in the different mucopolysaccharidosis, hydrocephalus is quite more rare. It is probably communicating and due to accumulation of storage material in the piaarachnoid causing an impairment in CSF absorption. It occurs in the evolution of the disease and the reported cases concern only older children; our case is special by the early beginning of hydrocephalus.

Humans↗
PubMed1983

[Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?].

The authors report three cases of anidrotic ectodermal dysplasia with an X-linked form. Two cases are sporadic forms, followed up during ten years; the third case is a familial form followed-up through six generations. With their personal cases, the authors insist on the repercussions in the everyday life; they report the signs which must search for an heterozygosis among the females of this families: hypoidrosis, hypodontia, hair shaft abnormalities under polarized light, special look of the face of those females who are alike sometimes wonderfully.

Anodontia↗