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F Serville

Publications and source records attributed to F Serville.

At least 19 recordsLinked to original sources
PubMed1992

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.

Adult↗
PubMed1992

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

We report the study of five independent X-linked hydrocephalus (HSAS1) families with polymorphic DNA markers of the Xq28 region. A total of 58 individuals, including 7 living affected males and 22 obligate carriers, have been studied. Maximum lod score was 7.21 at theta = 2.40% for DXS52 (St14-1). A single recombination event was observed between this marker and the HSAS1 locus. Other markers studied were DXS296 (Z = 2.02 at theta = 2.5%), DXS304 (Z = 4.37 at theta = 7.8%), DXS74 (Z = 3.50 at theta = 0%), DXS15 (Z = 1.96 at theta = 5.7%), DXS134 (Z = 3.31 at theta = 0%), and F8C (Z = 5.79 at theta = 0%). These data confirm the localization of the HSAS1 gene to Xq28 and provide evidence for genetic homogeneity of this syndrome. In addition, examination of two obligate recombinant meioses along with multipoint linkage analysis supports the distal localization of the HSAS1 locus with respect to the DXS52 cluster. These observations are of potential interest for future studies aimed at HSAS1 gene characterization.

Chromosome Mapping↗
PubMed1992

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.

Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation responsible for spino-bulbal muscular atrophy (SBMA or Kennedy disease). We have analysed a large 4-generation SBMA family and found that the mutant allele was unstable upon transmission from parent to child, with a documented variation from 46 to 53 repeats and a tendency to increase in size (7 increases and a single decrease in 17 events), which appeared stronger upon transmission from a male than from a female. Our results suggest also limited somatic instability of the abnormal allele, with observable variation of up to 2-3 repeats. This indicates that the behavior of the CAG repeat is similar to that observed for small premutations in the fragile X syndrome, or small abnormal alleles in myotonic dystrophy, two diseases which are caused by expansion of an unstable trinucleotide repeat.

Alleles↗
PubMed1992

[Cystic adenomatoid malformation of the lung, bilateral renal agenesis and left heart hypoplasia. An unusual association in Potter's syndrome].

We describe an autopsy case of congenital cystic adenomatoid malformation of the lung (CCAM) associated with bilateral renal agenesis. Prenatal ultrasound examination showed additional left heart hypoplastic syndrome. A therapeutic abortion was induced at 23 weeks of gestation. The association CCAM-bilateral renal agenesis is a rare condition (5 cases previously described) which has to be known because of the mitigation effect of the CCAM on the oligohydramnios determined by bilateral renal agenesis. However, this instance is usually associated with oligohydramnios. The pathogenesis of polyhydramnios in isolated CCAM is discussed in regard with these data.

Abnormalities, Multiple↗
PubMed1992

Idiopathic arterial calcification in a stillborn complicated by pleural hemorrhage and hydrops fetalis.

We report a case of idiopathic arterial calcification in a stillborn. As usually noted in this rare entity, the pregnancy was complicated by a polyhydramnios. The postmortem examination showed generalized arterial calcification, periarticular calcific deposits, and a large pleural hemorrhage. The causes of fetal hydrops in idiopathic infantile calcification are discussed, and, in the present case, the absence of myocardial ischemic lesion suggests that the fetal hydrops and the fetal death could have been caused by the bulky blood clot that was present in the right pleural cavity. The pathogenesis remains undetermined, but a primitive inherent defect of the elastic elements seems to initiate this disorder.

Aorta↗
PubMed1991

[Analysis of 1410 examinations of fetal pathology at the University Hospitals of Bordeaux].

We present a retrospective study of 1,410 fetal pathological examinations performed in the department of pathology of the CHU de Bordeaux. Initially, the recruitment of the cases was limited to the three maternity units of the CHU. Public and private maternities and departments of pediatrics from the whole of Aquitaine (S.W. province) as well as a certain number of neighbouring provinces now send us their material for analysis. Fetal pathological examination is systematically indicated in cases concerning spontaneous abortion, pregnancies terminated after prenatal diagnosis and stillbirths. Autopsies performed on children aged from 0 to 1 year have been included. The same technique has been used for all examinations and the data have been recorded on a computerized system (Centre Régional d'Informatique Hospitalière). Current data analysis for age at death, sex-ratio, maternal age, mode of abortion and pathological conditions are given. We found at least one pathological anomaly in 43.2% of the spontaneously aborted fetuses and stillbirths. Nevertheless, our aim is to demonstrate that foetopathology units can play a role not only for diagnoses having a significant impact on genetic counseling, but also as a database for epidemiological studies.

Autopsy↗
PubMed1991

[Fetus in fetu and acardiac monster: can the similar patterns of these 2 malformations be explained by a common morphogenic mechanism?].

Fetus in fetu and acardiac monster are two unusual malformations (estimated incidences: 1 in 500,000 and 1 in 34,600 deliveries respectively) which present very similar morphological patterns. The authors report two cases of acardiac monster and a case of fetus in fetu which emphasize this fact. These findings suggest that a single morphogenic mechanism leads to the defects observed in these two groups of malformations.

Abnormalities, Severe Teratoid↗
PubMed1990

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.

In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family, DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitial deletion that cosegregates with the phenotypic abnormalities. The proximal breakpoint of this deletion was located distal to the DXS31 locus and the distal breakpoint in the pseudoautosomal region between DXYS59 and DXYS17. This maps the recessive X-linked form of chondrodysplasia punctata between the proximal boundary of the pseudoautosomal region and DXS31, and an Xp gene controlling growth between DXYS59 and DXS31.

Adult↗
PubMed1989

Fryns syndrome: report on 8 new cases.

The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112,276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10,000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy-Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.

Abnormalities, Multiple↗
PubMed1989

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

Frontonasal dysplasia (FND) is a condition with a more or less severe ocular hypertelorism and, sometimes, a narrowing of the palpebral fissures. The nose is broad and flattened with clefting; it may be bifid or completely divided in two halves. In extreme cases, the central nervous system is concerned and there is a mental deficiency. There is no coronal craniosynostosis in pure FND. Other malformations can be observed. Among the cases reported in the literature, most of them are sporadic but they may be familial. We report here a sporadic case of F.N.D. in which scan examination of the brain shows a possible cephalocele. The literature is briefly reviewed.

Female↗
PubMed1989

[Craniorachischisis in conjoined "diprosopus" twins. Case report and review of the literature].

The pathological features in a case of craniorachischisis with incomplete twinning (diprosopus) are reported. The female fetus was born to a 27-year-old gravida 6, para 3 healthy woman who underwent a medical abortion at 13 week's gestation because of an anencephaly revealed by ultrasound examination. The head showed two fused faces with two mouths, two noses, two lateral completely formed eyes and two medially fused eyes covered by cutaneous tissue. X-ray examination demonstrated the symmetrically doubled spinal column. The brain and the spinal cord were absent (craniorachischisis). The larynx and the oesophagus, the other viscera and the limbs were normal in number, location and morphology as for a female singleton. This case with others from the literature, illustrates the relationship between conjoined twinning, neural tube defects (more particularly anencephaly) and female zygote and constitutes a real entity.

Abnormalities, Severe Teratoid↗
PubMed1989

[Arterial opacification in the anatomo-pathologic test of the fetus].

Arteriography provides information that is very useful for planning postmortem examinations of fetuses and stillborn neonates. This was demonstrated in a series of 25 fetal arteriographies performed by catheterization of the umbilical artery. A detailed analysis of systemic and pulmonary arteries was possible. The data thus collected was used to plan the postmortem examination. Furthermore, arteriography provided data on organs damaged by maceration and small caliber vessels that could not be readily submitted to pathologic studies. Arteriography of fetuses or stillborn infants is irreplaceable when permission to perform an autopsy is refused by the parents.

Angiography↗
PubMed1988

Renal, pancreatic and hepatic dysplasia sequence.

A renal, pancreatic and hepatic dysplasia sequence (RPHD sequence) was found in a male premature baby who died a few minutes after birth. Autopsy documented multicystic dysplastic kidneys, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates, prominent portal tracts containing dilated bile ducts and hypoplastic lungs. Other organs were normal. This triad constitutes a "dysplastic sequence" and was first reported by Ivemark et al. as "familial dysplasia of kidneys, liver and pancreas". Since then, this combination of abnormalities has been named "polycystic dysplasia" and "renal-hepatic-pancreatic dysplasia", but mostly "Ivemark syndrome", at the risk of being confused with asplenia-cardiac anomaly syndrome, which was reviewed by Ivemark et al. and also bears Ivemark's name.

Humans↗
PubMed1988

[Robertsonian translocation and genetic counseling].

A collaborative study on 92 Robertsonian translocations is analysed in relation with the methods of ascertainment, the type of rearrangement and potential imbalance of the anomaly. The results are useful in genetic counselling.

Chromosome Aberrations↗