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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 127 records · Page 7Linked to original sources
PubMed1996

Familial distal arthrogryposis type I.

Distal arthrogryposis type I is defined by congenital joint contractures of hands and feet and is inherited in an autosomal dominant fashion. The hands are most frequently involved than the feet, 98% and 88% of the cases, respectively. The authors report a family with five patients affected over four generations. This family demonstrates the marked intra-familial variability in expression of this condition. Inter-familial variability is also typical of distal arthrogryposis type I.

Arthrogryposis↗
PubMed1996

A study on limb reduction defects in six European regions.

Limb reduction defects (LRD) gained special attention after the thalidomide tragedy in 1962. LRD are common congenital malformations which present as obvious congenital anomalies recognized at birth. Therefore it might be assumed that they are well documented. However classification of LRDs is disputed as the identification of the exact site of the reduction(s) is hindered by imprecise information. This study was undertaken in 6 European countries to evaluate the use of the new classification proposed by EUROCAT for the epidemiologic and genetic study of LRD. The total number of births including livebirths, still-births and terminations, surveyed during 7 years by the 6 registries of congenital anomalies participating to this study was 611.150. The total prevalence of LRD was 7.06 per 10.000 births including the following categories prevalence : terminal transverse, 3.97, longitudinal, 1.75, proximal-intercalary, 0.10, split hand/foot 0.54 and multiple types 0.70. The prevalence of LRD was statistically higher in Basque Country, Odense, Strasbourg and Groningen than in Belfast and Emilia Romagna. Six per cent of the cases were chromosomal anomalies, including 15 trisomies 18 out of 26 cases, 49.5% (201 cases) were isolated LRD and 50.5% (206 cases) had other major non LRD associated malformations. Sex ratio and maternal age were not statistically different between regions and from the normal population. Multiply malformed with LRD had statistically significantly lower birthweight and lower gestational age than isolated cases with LRD, where available prenatal detection of LRD was higher in multiple malformed children with LRD than in isolated cases, 19.9% and 4.8% respectively. The precurrence risk was 1 in 37.

Abnormalities, Multiple↗
PubMed1996

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both the expansion and methylation status can be determined on a single EcoRI digest, because of the presence of a methylation-sensitive EcoRI site very close to the CCG repeat. We thus detected in a series of mentally retarded individuals previously tested for FRAXA expansion a FRAXE proband who led to the identification of a large sibship (7 of 10 children carrying a mutation). We also show that two fragile X families without FRAXA mutation that previously have been described by Oberlé et al. have the FRAXE expansion. In another family also ascertained initially by cytogenetic finding of a fragile X site, we performed the combined cytogenetic and molecular prenatal diagnosis of a mutated male fetus. All nine males (>3 years old) in whom we found a methylated mutation had mild mental retardation. Our results suggest that the threshold of repeat length for abnormal methylation and fragile-site expression may be smaller at FRAXE than at FRAXA.

Adolescent↗
PubMed1996

Multiple familial lipomatosis with polyneuropathy, an inherited dominant condition.

A 22-year-old man had polyneuropathy, facial dysmorphia, atopia and multiple lipomatosis. His mother had neuropathy but not lipomatosis as two of her first cousins. The proband's grandmother had multiple lipomatosis as her own mother and a sister of her mother, but they didn't have neuropathy. This family is an example of a dominant syndrome the principle features of which are polyneuropathy. Variable expression could account for the phenotypic differences, combined with multiple lipomatosis.

Adult↗
PubMed1995

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12, 263-270, 1992), considering the period 1979-1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentage of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).

Abnormalities, Multiple↗
PubMed1995

Prenatal detection of internal urinary system's anomalies. A registry-based study.

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding to Internal Urinary System (IUS) anomalies. The mean time of detection of IUS anomalies was 29 weeks of pregnancy (12-39). The sensitivity of prenatal diagnosis of IUS anomalies by ultrasonographic examination was 59.3% for isolated malformations (fetuses with only one anomaly) and 46.0% for multiple malformed children with IUS anomalies. For all cases of IUS anomalies the percentage of prenatal detection was 56.0. Termination of pregnancy was performed in 9.4% of the cases.

Female↗
PubMed1995

Prognostic significance of DNA ploidy in oral squamous cell carcinomas. A retrospective flow and image cytometric study with comparison of DNA ploidy in excisional biopsy specimens and resection specimens, primary, tumors, and lymph node metastases.

Deoxyribonucleic acid ploidy was determined in paraffin-embedded tumor tissue from 116 patients with primary oral squamous cell carcinomas (including 5 carcinomas of the lip and 14 of the tongue) by means of flow cytometry. One hundred six cases were suitable for evaluation (91%). Sixty-eight percent of the cases (n = 72) showed a nondiploid nuclear DNA content. Nondiploidy correlated significantly with presence of lymph node metastases (p < 0.02) but not with tumor stage, grading (World Health Organization), or relapse-free and overall survival. Carcinomas of the lip and tongue turned out to be diploid more frequently than other oral squamous cell carcinomas (p = 0.002). In the 21 cases in which a comparison of DNA content of excisional biopsy specimens and subsequent resection specimens was possible a difference in DNA ploidy was found in one case only. The comparison of primary tumors and their lymph node metastases in 30 cases revealed a discrepancy of DNA content in five cases (17%), which was connected with a shift from nondiploidy to diploidy in four out of five cases. Fifty cases studied in parallel by means of image cytometry with Feulgen-stained tissue sections exhibited a concordance of the ploidy status in 87% and a significant correlation of the DNA index values obtained with both methods (p < 0.01). These results demonstrate that DNA ploidy in oral squamous cell carcinomas is distributed rather homogeneously within the tumors and remains rather stable in the lymph node metastases. Despite a significant correlation between nondiploidy and presence of lymph node metastases, ploidy failed to be a statistically significant parameter for prognosis in oral squamous cell carcinomas in our investigation.

Aneuploidy↗
PubMed1995

Autosomal recessive omodysplasia.

The authors report on a new case of omodysplasia with severe shortness of lower limbs and with first cousin parents. This condition is a second form of omodysplasia. Recessive transmission is confirmed by consanguinity.

Abnormalities, Multiple↗
PubMed1995

No evidence for genomic imprinting in liveborn Down syndrome patients.

Despite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. The authors have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA polymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases. The phenotype of Down syndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin. The authors conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.

Adolescent↗
PubMed1995

Distribution of single organ malformations in European populations. EUROCAT Working Group.

The aim of this study was to evaluate the prevalence of congenital anomalies in 19 areas from 13 European countries. A total of 291,126 births were surveyed. On average most of the anomalies were recorded in livebirths. The total prevalence of congenital anomalies was 21.8 per 10,000 births. Four groups of congenital anomalies were of particular note in the consideration of geographic variations: neural tube defects, cleft lip, limb reduction defect and Down syndrome. For neural tube defects, 24 cases per 10,000 were recorded in the British Isles whereas only 9.6 cases per 10,000 were registered in Continental Europe. Cleft lip had a much higher prevalence in Groningen (The Netherlands) and in Odense (Denmark) than in the other European countries under study. The prevalence of limb reduction defect was high in Bilbao (Spain), in Odense, in Strasbourg (France) and in Groningen. In the study population the prevalence of Down syndrome ranged from 5.6 to 21.3 per 10,000 livebirths.

Cleft Lip↗
PubMed1995

Prevalence of neural tube defects in northeastern France, 1979-1992 impact of prenatal diagnosis.

The objective of this study was to determine in total prevalence of neural tube defects (NTD) in northeastern France during 1979-1992 inclusive, the impact of prenatal diagnosis on birth prevalence. All births and termination of pregnancy affected by NTD were ascertained from multiple sources thank to our registry of congenital anomalies. In our region maternal serum alpha-fetoprotein screening is not available whereas routine ultrasonographic screening of congenital anomalies is performed in all pregnant women. Total prevalence of NTD during 1979-1992 was 10.94 per 10,000 with no upward or downward trend. The total prevalence of NTD in our region remained stable. However birth prevalence fell significantly. The fall was 100 per cent for anencephaly and 60 and 50 per cent for spina bifida and encephalocele, respectively. This decrease was obtained by routine ultrasonographic examination only and termination of pregnancy. Comparison with similar studies in other countries demonstrated that screening by maternal serum alpha-fetoprotein is needed in our region.

Evaluation Studies as Topic↗
PubMed1995

Rett-like syndrome in fragile X syndrome.

A 23-year-old pregnant woman was referred to the Genetics Department for genetic counselling and possible prenatal diagnosis because of unexplained mental retardation in a paternal uncle. Family history revealed that her father had two mentally retarded sisters well as a brother with mental retardation and a normal sister. This normal sister had two normal sons, on normal daughter and one mentally retarded daughter. The normal daughter had one daughter, who has been referred to the pediatric department because of mental retardation two months earlier; Rett syndrome was diagnosed as this girl had the classical symptoms of this syndrome. The paternal uncle of the consultant was examined. H head typical features of fragile X syndrome. Therefore cytogenetic and molecular studies were undertaken in this family. Fragile X syndrome was diagnosed in the girl with Rett syndrome by the presence of the classical FMR-1 mutation and confirmed by cytogenetic studies, which revealed 12% fragile X positive cells.

Adult↗
PubMed1995

Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents.

The female proband, from Turkish extraction was the fifth liveborn child of a 24-years-old mother and a 25-years-old father. Her parents as well as her two older sisters and her two older brothers were phenotypically normal. Parents were first cousins. At birth a complex cardiac defect was diagnosed (tricuspid atresia, hypoplasia of the pulmonary artery, dextroposition of the aorta, ventricular septal defect and auricular septal defect) for which she was operated on in 1976, 1983 and 1984. When she was 20 years old, latero aortic pheochromocytoma was diagnosed. At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "café-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.

Abnormalities, Multiple↗
PubMed1994

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births.

The risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non-consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies, we think that the answer to this question is "yes." In the population studied in Northeastern France, consanguineous matings were known in 1.08% of the cases with congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 38 malformed children, 24 were seen in first cousin matings (10.5 times more frequent than in offspring of nonconsanguineous couples), 8 in second cousin marriages, and 6 in more distantly consanguineous matings. Consanguineous mothers were more often pregnant than nonconsanguineous mothers (P < 0.01) and they had more stillbirths than nonconsanguineous mothers. These results must be taken into account when counseling consanguineous couples.

Congenital Abnormalities↗
PubMed1994

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis.

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.

Adult↗
PubMed1994

Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies.

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding limb reduction defects (LRDs). The mean time of detection of LRDs was 26 weeks of pregnancy (range 16-32 weeks). The sensitivity of prenatal diagnosis of LRDs by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiply malformed children with LRDs, 4.0 and 18.2 per cent, respectively. For all cases of LRDs, the percentage of prenatal detection was 11.5. Termination of pregnancy was performed in 6.7 per cent of the cases.

Congenital Abnormalities↗