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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 109 records · Page 6Linked to original sources
PubMed1998

Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl.

Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in which are combined in a syndrome or which do not fit in any of the known syndromes. We report a child with congenital bilateral deficiency of the fibula and an unusual combination of features. The patient, a girl, was born after an uneventful pregnancy at term to young healthy parents. Absent fibulae were noted at birth. At age 4 she was found to have growth retardation with delayed bone age, overlapping, short toes, syndactyly of the toes, clinodactyly of the 5th and 2nd fingers, syndactyly of the three last fingers and facial dysmorphia. Mental retardation was present. Karyotype and laboratory investigations were normal. Differential diagnosis included syndromes with aplasia or hypoplasia of fibula, but none of these syndromes seemed to include the girl's features.

Abnormalities, Multiple↗
PubMed1998

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 where congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high risk groups. Thanks to our registries of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 92,021 consecutive pregnancies of known outcome from 1990 to 1993. Only 107 out of 779 malformed fetuses with CHDs without chromosomal anomalies were detected (13.7 per cent). The sensitivity of detection varied from 50 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 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 > 18 weeks' gestation and to train sonographers in order to improve prenatal detection of CHDs.

Abnormalities, Multiple↗
PubMed1998

A patient with 13q-syndrome with mild mental retardation and with growth retardation.

We report on a patient with deletion 13q33.3-->qter having growth retardation but no severe mental retardation. He was microcephalic and had hypotonia, large, low set ears, depressed nasal bridge, hypertelorism, small chin, high and broad forehead and bilateral simian creases. FISH was carried out using a telomeric probe of chromosome 13. Only one chromosome 13 showed a signal. Whole chromosome 13 probe showed that there was no 13q material on another chromosome. The karyotypes of the parents were normal.

Chromosome Banding↗
PubMed1997

The spectrum of congenital anomalies of the VATER association: an international study.

The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

Abnormalities, Multiple↗
PubMed1997

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.

The clinical manifestations of patients with a 22q11.2 deletion are highly variable and mainly include developmental defects of structures derived from the third and fourth pharyngeal pouches. Laryngeal atresia has occasionally been reported in DiGeorge syndrome as well as in velo-cardio-facial syndrome. We observed three patients with type III laryngeal atresia (glottic web) and 22q11.2 microdeletion. One patient showed a "classical" 22q11.2 deletion phenotype with clinical overlap with DiGeorge and velo-cardio-facial syndromes. However, the pattern of congenital anomalies of the two others was less specific, heart defects and minor anomalies being the only outstanding clinical manifestations suspicious for monosomy 22q11.2. Our findings suggest that laryngeal atresia represents an additional malformation which should prompt investigation of 22q11.2 deletion, especially in combination with congenital heart defects.

Child↗
PubMed1997

[Anomalies of thyroid function in children with Down syndrome].

BACKGROUND: Abnormal thyroid function was shown in children with Down syndrome (DS). This study was undertaken in order to specify these anomalies. POPULATION AND METHODS: Thyroid function of 105 children with DS aged from 3 months to 20 years was studied by evaluation of serum concentration of thyrotropin, free T4 (FT4), free T3 (FT3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. RESULTS: The mean concentration of thyrotropin of children with DS was increased while the mean concentration of rT3 of the DS children was significantly decreased compared with the controls, as was the ratio rT3/TSH. When DS children are split into two groups, those with and those without increased thyrotropinemia, a significant decrease in the ratio rT3/TSH appeared in DS children with increased thyrotropinemia whereas there is no difference between these two groups regarding to level of FT4, FT3, rT3 and zincemia. However, in all DS children serum zinc levels were lower than in controls. Thyrotropin levels rapidly normalized after thyroxin treatment. CONCLUSION: One half of the children with DS have increased thyrotropinemia and all have a decreased rT3.

Adolescent↗
PubMed1997

[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands].

BACKGROUND: The fragile X mental retardation syndrome is the most common cause of inherited mental retardation. Identification of the unstable mutation responsible for the disease has allowed the design of a fully reliable molecular test for the diagnosis of the disease and for genetic counselling (identification of clinically normal carriers and prenatal diagnosis). We started in July 1991 to search for the mutation in mentally retarded probands, with no known cause for their phenotype. We present the results of a 42-month experience. POPULATION AND METHODS: One thousand and one hundred fourty-nine probands were analysed. In case of a positive diagnosis, an extension of the molecular study to relatives was proposed. DNA samples were studied by Southern blot following EcoRI or EcoRI + EagI digestion. Clinical data were collected from referring clinicians. RESULTS: Seventy-three carriers of a full mutation were identified, belonging to 52 families. The mean age of the fragile X probands was 16 +/- 14 years, which is very surprising for a disease that causes significant manifestations by the age of 2 to 3 years. This indicates an insufficient knowledge about this disease in France. Most of the demands for the test were from clinical geneticists. This diagnosis is of major importance for genetic counselling, as illustrated by the following study of 108 women at risk in these families. CONCLUSIONS: The importance of an early diagnosis followed by an extended family study, for carrier screening and prevention of this severe disease, justifies molecular testing on any child with mental retardation or significant language delay of unknown cause, in the absence of clinical signs formally excluding a fragile X diagnosis.

Adolescent↗
PubMed1997

Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22.

A girl with short stature and brachydactyly had a fragile site at 16q22. Her mother had the same phenotype and the fragile site, too. These cases open the discussion of a possible association between a rare fragile site and an abnormal phenotype. Fragile sites are divided into two major groups, those which are rate and those which are common. The fragile site at 16q22 is a rare inductible fragile site. It is possible that the association between brachydactyly and the fragile site in a mother and her daughter may be due to chance. However rare fragile sites predispose to phenotypic abnormalities. The abnormal features in these two cases could be the result of the disruption of a gene involved in a skeletal development.

Abnormalities, Multiple↗
PubMed1997

Prevalence of neural tube defects in northeastern France, 1979-1994. Impact of prenatal diagnosis.

The objective of this study was to determine in total prevalence of neural tube defects (NTD) in northeastern France during 1979-1994 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 1979-1994 was 10.73 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 per cent for spina bifida. This birth prevalence was unchanged for encephalocele. This decrease for anencephaly and spina bifida 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.

Female↗
PubMed1997

Congenital eye malformations in 212,479 consecutive births.

Congenital eye malformations were studied in a small geographical area in 212,479 consecutive births. For each of the 145 new cases studied during the period 1979 to 1994, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 6.8 per 10,000 for microphthalmia 1.7, anophthalmia 0.23, cataract 2.7 and coloboma 1.4 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in 18 cases and 7 cases were induced abortions. The more common types of associated malformations in the 81 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly, cleft lip/palate and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformations and consanguinity of parents. The recurrence risk for first degree relatives of probands was 8.9%. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling.

Adult↗
PubMed1997

Binder syndrome in a mother and her son.

Binder syndrome or maxillonasal dysplasia is characterized by maxillary hypoplasia and a flat, vertical nose. Inheritance is uncertain. We report on a mother and her son with Binder syndrome. The proband was the last child of a kinship of seven children. Three sisters, three brothers and the parents were normal. The proband had a maxillary hypoplasia and a flat, vertical nose. The columella was short, the nostrils had a triangular shape and the upper lip was convex with an acute nasolabial angle. There were no dental abnormalities apart from those secondary to malocclusion. Height and intelligence were normal. After an uncomplicated pregnancy, the proband delivered a boy who had low nasal bridge, hypertelorism, maxillary hypoplasia and a small nose with a broad columella. Although the majority of cases of maxillonasal dysplasia are sporadic, familial occurrence has been reported by a number of authors. In six pedigrees the recurrence was in second or third degree relatives. Recurrence in sibs with unaffected parents has been observed seven times and an affected parent and child has been rarely reported. The Binder phenotype may be heterogeneous. The pattern of abnormalities seen in this condition does not represent a causally defined entity.

Adult↗
PubMed1997

Risk factors in congenital anal atresias.

Congenital anal atresias were studied in a small geographical area in 225,752 consecutive births. For each of the 108 new cases studied during the period 1979 to 1995, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital anal atresias was 4.8 per 10,000 births. Sex ratio was 0.96. Prenatal diagnosis was performed in 14 cases and 11 cases were induced abortions. The more common types of associated malformations in the 45 non syndromic affected cases with at least one major anomaly other than anal atresia were renal agenesia, genital anomalies and ventricular septal defect. At births infants with anal atresia and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with anal atresia were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital anal atresia took more often drugs during pregnancy than mothers of controls. Fathers of children with anal atresia were more often exposed to occupational hazards than fathers of controls. There was a significant association between anal atresia and consanguinity of parents (p < 0.05). The recurrence risk for first degree relatives of probands was 3.7%. First degree relatives of probands had more than twice the prevalence of non-anal atresia malformations than controls.

Adult↗
PubMed1997

De novo trisomy 22 due to an extra 22Q-chromosome.

Trisomy 22 is the most frequent trisomy, after trisomy 16, of the trisomies present in miscarriages. The children born with trisomy 22 have usually unbalanced translocations 11; 22 or mosaicisms. In a recent review Bacino et al. [1] were able to find 17 cases of children born with trisomy 22 including only 3 cases confirmed by molecular cytogenetics. We report a patient with an extra chromosome 22q- without mosaicism. This chromosomal anomaly was defined with FISH studies. The phenotype include microcephaly, microtia with pre auricular tags, hypertelorism, epicanthus, palatal cleft, short neck, winging scapulae, hypoplasia of the distal phalanges, pulmonary stenosis and mental retardation.

Child, Preschool↗
PubMed1996

Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias.

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. However what is theoretically possible is not, always done in practice specially when gastrointestinal atresias (GIA) 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 GIA by ultrasound scan in 118,265 consecutive pregnancies of known outcome. Only 31 out of 129 malformed fetuses with GIA were detected (24.0%). The sensitivity of detection varied from 51.4% for atresia of the small intestine to 24.2% for esophageal atresia and 8.2% for ano-rectal atresia. No isolated case with esophageal atresia and ano-rectal atresia were diagnosed. Our results stress the need to perform scans at > or = 18 weeks gestation and to train sonographers in order to improve prenatal detection of GIA.

Adult↗
PubMed1996

No evidence for genomic imprinting in liver-born Down syndrome patients.

Despite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. We 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 plymorphic 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. We conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.

Adolescent↗
PubMed1996

Siblings with congenital renal tubular acidosis and nerve deafness.

Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in accordance with an autosomal recessive gene. The association of RTA and deafness was first noted by Royer in 1967, and so far some 50 cases have been described. The literature is reviewed.

Acidosis, Renal Tubular↗