Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 145 records · Page 8Linked to original sources

PubMed1994

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Milder forms, termed hypochondroplasias (HCH) result in short stature with radiological features similar to those observed in ACH. We report on the mapping of a gene causing ACH/HCH to human chromosome 4p16.3, by linkage to the iduronidase A (IDUA) locus, in 15 informative families (Z max = 3.01 at theta = 0 for ACH; Z max = 4.71 at theta = 0 for ACH/HCH). Multipoint linkage analysis provides evidence for mapping the disease locus telomeric to D4S412 (location score in log 10 = 4.60). Moreover, this study supports the view that ACH and HCH are genetically homogeneous in our series.

Achondroplasia↗

PubMed1994

Recent trends in the prevalence of Down syndrome in north-eastern France.

Examination of data from our regional registry of congenital anomalies indicated that 217 children with Down syndrome (DS) were registered (liveborn, stillborn or termination of pregnancy) to mothers living in the Strasbourg area from 1980 to 1992 inclusive. This represents a period prevalence of 1.25 per 1000 total births. From 1980 to 1987, 93 children with DS were registered (prevalence of 0.79 per 1000) whereas from 1988 to 1992, 124 trisomic 21 were identified (prevalence of 1.81 per 1000). In our country since 1980, prenatal diagnosis is offered, free of charge, to all women being 38 years old or more. The percentage of women in whom prenatal diagnosis was performed was "en plateau" since 1986, around 60 per cent. No screening program based on detection of markers in maternal serum (AFP, hCG, U3) is available in our region. A changing pattern of risk in relation to maternal age was identified. In the general population, women under 35 years gave births to 91.7 per cent of all children in 1986 and to 81.1 per cent of all children in 1990. From 1980 to 1987 34.7 per cent of the children with DS were registered in mothers older than 35 years of age, from 1988 to 1992 this percentage was 46.3. From 1982 to 1987, 33 DS were born alive from mothers over 35 years whereas from 1988 to 1992, 25 livebirths DS were born from mothers over 35 years although interruption of DS pregnancies was more frequent in women older than 35 years of age.(ABSTRACT TRUNCATED AT 250 WORDS)

Down Syndrome↗

PubMed1994

Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition?

The authors report on a child in which the occurrence of cardiac defect, urinary tract anomaly, and Duane anomaly was associated with mental retardation. The parents were first cousins. The index case was a 3-year-old girl referred for mental retardation. Auricular septal defect was diagnosed at birth. She was surgically treated for bilateral vesico-ureteral reflux at 2 years of age. At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. The Duane anomaly may occur in association with various partly overlapping syndromes that may be part of the same clinical spectrum, as the cervico-oculo-acoustic syndrome, the cat eye syndrome and syndromes inherited in an autosomal dominant fashion: the acro-reno-ocular syndrome and the Okihiro syndrome. Their patient seems to have a different condition from all of these previously reported syndromes associated with the Duane anomaly. Their suggest that this condition is best described as a new syndrome.

Abnormalities, Multiple↗

PubMed1994

[Gitelman syndrome in children: true hypokalemia but false Bartter syndrome].

BACKGROUND: Gitelman's syndrome or familial hypokalemia-hypomagnesemia and Bartter syndrome share some common features but their prognosis is quite different. CASE REPORT: Four unrelated children, aged 5 to 12 years, were studied because they suffered from muscle cramps and/or abdominal pain. Supportive findings included: hypokalemia (2.1 to 2.9 mmol/l), metabolic alkalosis (31 to 34 mmol/l), hyperkaliuresis (5.8 to 7.1 mmol/kg/day), hypomagnesemia (0.58 to 0.64 mmol/l), hypermagnesuria (0.19 to 0.23 mmol/kg/day), hypocalciuria (0.012 to 0.021 mmol/kg/day). Blood pressure contrasting with high renin activity (19.04 to 20.03 ng/ml/hr) was normal. Chloride fractional excretion after oral water supplementation was only slighty decreased and hypercalciuric response to furosemide administration was not observed. Supplementation with magnesium chloride failed to correct hypomagnesemia while potassium chloride improved hypokalemia. CONCLUSIONS: Age of onset, tetany manifestations, absence of growth retardation, hypermagnesuria despite, hypomagnesemia, hypocalciuria not improved by furosemide favor the diagnosis of Gitelman's syndrome rather than that of Bartter syndrome initially considered.

Bartter Syndrome↗

PubMed1994

A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.

We report on three sibs (two females, one male) with a syndrome including physical and mental developmental delay, facial dysmorphia, an increased number of skin folds and recurrent infections. Pulmonary infections were especially severe and frequent, leading to bronchiectasis. Steatorrhea was intermittent. A sweat test was normal. Congenital heart defect was present in two sibs and vesico-ureteral reflux was diagnosed in two sibs. Neutropenia was the most obvious immunological defect. Myelodysplasia was noted. Acute myeloblastic leukemia developed in one sib. The healthy parents of the patients are first cousins. The consanguinity of the parents points-to an autosomal recessive mode of inheritance of this new syndrome but a mitochondrial disorder cannot be excluded.

Abnormalities, Multiple↗

PubMed1994

A boy with neurofibromatosis 1 and Poland anomaly.

Von Recklinghausen neurofibromatosis (NF1) is one of the most common autosomal dominant disorders and has one of the highest mutation rates of a single human locus. The NF1 gene has recently been mapped to proximal 17q. Poland anomaly consists of the combination of unilateral aplasia of the sternal head of the pectoralis major muscle and an ipsilateral anomaly of the hand. Although other defects may occur in patients with Poland anomaly, neurofibromatosis 1 has not been reported. We have seen a boy with these two disorders.

Child, Preschool↗

PubMed1994

Oto-palato-digital syndrome type II.

We report a patient with a sporadic case of oto-palato-digital (OPD) syndrome type II. Parents and five previous sibs are normal. At 26 years of age the patient had conductive hearing impairment, cleft palate, a prominent forehead, a flat facies, and a broad nasal base resulting in the characteristic "pugilistic" appearance. Extension and supination were limited at the elbows; thumbs and halluces were broad. Many radiological abnormalities were noted: malformations of the cervical spine, pelvic abnormalities, bilateral coxa valga, genu valgum, small fibulae, pes equino varus, and 15 carpal bones. IQ improved dramatically from 65 to 95.

Abnormalities, Multiple↗

PubMed1993

Evaluation of prenatal diagnosis of congenital heart disease.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131,760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four-chamber view, to perform scans at > or = 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.

Female↗

PubMed1993

The epidemiology of three serious cardiac defects. A joint study between five centres.

The paper reports a joint study made by five member programs of the International Clearinghouse for Birth Defects Monitoring Systems. Three specific heart malformations were studied, hypoplastic left heart syndrome (HLHS), transposition of the great vessels (TGV), tetralogy of Fallot, and some epidemiological characteristics were analyzed. The prevalence at birth was estimated to be 2.0, 2.9, and 2.2 per 10,000 births, respectively. No time trend in the prevalence at birth was observed for any one of the three malformations in the total study population. When only isolated defects were considered (infants without major non-cardiac malformations), all three cardiac anomalies showed an increased rate in infants with low birth weight, short gestational duration and probably twinning. A preponderance for males was observed for each defect but was strongest among infants with tetralogy of Fallot (sex ratio 2.5 for Fallot, 1.4 to 1.5 for the other conditions). There were also differences between the three cardiac defects with respect to percentage of low birth weight, preterm births, and rate and type of associated extracardiac malformations. This paper stresses the advantage of pooling data from different registries in studies of uncommon specific malformations and infrequent characteristics.

Adult↗

PubMed1993

Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate.

Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common birth defects affecting 1/1000 Caucasians. Genetic factors are thought to contribute to the development of this disorder. A significant association between two restriction fragment length polymorphisms, the TGF alpha TaqI 2.7-kb allele and the TGF alpha BamHI 40-kb allele, at the transforming growth factor alpha (TGF alpha) locus and the occurrence of clefting has previously been reported. A total of 98 Caucasian patients of Alsacian ancestry was recruited from our registry of congenital malformations. These patients had isolated CL/P but no other anomalies. In addition 57 patients with cleft palate, but without cleft lip, were studied. A control group comprised 99 unrelated healthy Caucasians of the same Alsacian ancestry. TaqI and BamHI identify two-allele polymorphisms. The TGFA Taq and BamHI alleles showed no significant association with the presence of clefting, the only exception being that the BamHI 10.0-kb allele was significantly more frequent in patients with bilateral CL/P.

Child↗

PubMed1993

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. We have used our registry of congenital malformations to determine how many fetal anomalies and consequently how many chromosomal abnormalities are detected by this procedure. In our region, evaluation of prenatal diagnosis of chromosomal abnormalities in women of 38 years and younger (chromosomal prenatal diagnosis is offered to women > or = 38 years) with no personal or familial history of chromosomal anomaly was performed in 119,099 consecutive pregnancies of known outcome from 1980 to 1987. At least one ultrasonographic examination seeking congenital malformations was performed in more than 95% of the pregnant women studied. The total number of chromosomal anomalies during the study period was 199, 123 of these being Down syndrome. Only 41 (34.5%) of the 119 fetuses with chromosomal abnormalities and congenital malformation examined had been found to have a malformation at ultrasound examination. This low sensitivity was different for the diverse chromosomal abnormalities. Only 10 out of the 54 fetuses with Down syndrome and malformations (18.5%) were detected and only 3 out of 24 (12.5%) atrioventricular canal defects in those trisomic 21 patients were detected. Only 5 out of 11 (45.4%) fetuses with trisomy 13, 13 out of 26 (50.0%) fetuses with trisomy 18, 7 out of 12 patients with monosomy X (58.3%) and 6 out of 27 (22.2%) fetuses with other chromosomal abnormalities were diagnosed. Moreover, the time of detection of these anomalies was early enough to allow amniocentesis and termination of pregnancy in the case of a chromosomal abnormality in only 15 out of these 41 patients, including 7 cases of cystic hygroma in fetuses with monosomy X. This low sensitivity is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate qualification of some operators and by the insufficient duration of the routine examination. In conclusion, our study has shown that the sensitivity of the detection of chromosomal abnormalities by routine prenatal ultrasound screening is low. Other screening methods are needed.

Adult↗

PubMed1993

Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

Abnormalities, Multiple↗

PubMed1993

[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].

BACKGROUND: MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. Linkage studies have shown linkage to markers in the Xq28 band. CASE REPORTS: Case no. 1: Mickaël was examined at the age of 3 yr 4 mo. He was mentally retarded (IQ = 40), aphasic, and had spastic gait, moderate facial dysmorphy and adducted thumbs. His parents were normal, except that his mother had similar facial dysmorphy. His brain CT scan was normal. Case no. 2: Philippe was the elder brother of Mickaël. When examined at the age of 5 years, he had the same features as his brother. His IQ was 40. His brain-CT scan was also normal. DNA analysis with markers for the Xq28 area showed that the brothers had received different X chromosomes from their mother. CONCLUSION: DNA studies suggest that the MASA syndrome is heterogeneous.

Aphasia↗

PubMed1993

Transforming growth factor-alpha: characterization of the BamHI, RsaI, and TaqI polymorphic regions.

We have characterized the nature of structural alleles of the transforming growth factor-alpha (TGF alpha) locus by restriction-enzyme digestion with BamHI, RsaI, and TaqI. The BamHI polymorphic site is located within exon VI, which codes for the 3' untranslated region. The two BamHI alleles differ by a single point mutation at the restriction site. The RsaI and TaqI polymorphic sites are located within intron V. The two alleles differ at the restriction site, either by a point mutation (RsaI) or by a 4-bp deletion (TaqI). This analysis permits us to devise a PCR method coupled with restriction digestions to directly identify the TGF alpha polymorphisms. Analysis of 99 Caucasian controls has revealed a highly significant (P < .001) association between the RsaI and the BamHI genotype. The frequency of the rare BamHI allele was significantly higher (P < .001) in transformed cell lines (.30) than in controls (.076).

Alleles↗

PubMed1993

Twelve cases with hemihypertrophy: etiology and follow up.

Twelve patients with hemihypertrophy are described. All but one are sporadic cases. The parents were unrelated. Family and pregnancy histories are otherwise unremarkable in all cases. Diagnosis was always performed at birth or in the weeks following birth. There were 5 boys and 7 girls including one mother and her daughter. Hemihypertrophy was localized to the upper limb in one case and to the lower limb in one case. One patient had some features of Mc Cune Albright syndrome. Hemihypertrophy was associated with Silver-Russel syndrome in two patients. In all other cases hemihypertrophy was idiopathic. Mental and motor development were normal in all cases, as was puberty. During growth the body asymmetry was unchanged. Orthopedic problems complicated growth in some cases. The most obvious of these problems was scoliosis. Limb lengthening was necessary in 2 cases. One of our patients developed an abdominal tumor. One of our patients had two normal children. Hemihypertrophy is usually not inherited. However, the mother of one of our patients also had hemihypertrophy.

Adult↗

PubMed1993

Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome.

We report two sibs with Angelman syndrome or an apparently new syndrome. In addition to severe mental retardation and seizures, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic facial features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis. Brain CT scan and MRI revealed ventricular enlargement and squared frontal horns. Pregnancy and delivery were uneventful. Karyotypes were normal. No deletion of chromosome 15q11-13 region was shown by molecular genetic techniques. The parents who are normal are second cousins. The condition is therefore probably inherited as an autosomal recessive one.

Angelman Syndrome↗

PubMed1992

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

Abnormalities, Multiple↗

PubMed1992

Evaluation of prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal 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 our region, 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. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.

Abnormalities, Multiple↗