[Schooling of children with trisomy 21. A 4-year experience].
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Child↗
Biomedical subjects
M P Roth
Publications and source records attributed to M P Roth.
[Branchio-oto-renal dysplasia. A hereditary dominant autosomal syndrome with variable expression].
A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.
Adult↗
[Immunologic study of 58 children with trisomy 21].
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Blood Proteins↗
A reexamination on parental age effect on the occurrence of new mutations for achondroplasia.
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Achondroplasia↗
Sister chromatid exchange and growth kinetics in chronic myeloid leukemia.
The frequency of sister chromatid exchange (SCE) was analyzed in bone marrow cells of 16 patients with chronic myeloid leukemia. We have compared the SCE frequency in these patients, in both chronic and blastic phases of the disease, to that of normal individuals. The frequency of SCE in blastic-phase chronic myeloid leukemia patients (mean, 1.86/cell) was significantly lower than that in chronic phase (mean, 2.96/cell), which was in turn lower than that in normal individuals (mean, 4.108/cell). We have used the SCE data to compare the rates of division of the bone marrow cells. Cells from chronic myeloid leukemia patients divided more slowly than did those from normal individuals, those from blastic-phase patients being slowest.
Adult↗
[Familial trisomy 10q (author's transl)].
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Adolescent↗
Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X.
A girl with mental retardation had a partial trisomy 4q. The chromosome aberration originated from a maternal balanced translocation t(4;13)(q26;q34). The value of Factor X was half the normal value, raising the question of the location of a gene related to the production of Factor X on chromosome 4.
Child↗
Familial pterygium syndrome.
Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion deformities of the limb joints and anomalies of the vertebrae. Eight other cases are known. The condition is inherited in an autosomal recessive mode.
Abnormalities, Multiple↗
Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).
A boy with mental retardation and physical abnormalities has an interstitial deletion of one chromosome 5:46,XY,del(5)(q13q15).
Abnormalities, Multiple↗
[Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome].
A father and his daughter has the same features: short stature, the distal phalanges, the wrists, the elbows, the feet and the knees were flexed. All other joints had abnormal range of motion. Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant.
Adult↗
Prenatal diagnosis of hypochondroplasia.
Prenatal diagnosis of a fetus at risk for hypochondroplasia, a short limb dwarfism condition similar to achondroplasia, was performed by ultrasound at 22 weeks' gestation. The limb bones were measured and shown to be decreased in length. The pregnancy was terminated. Post abortion X-ray did not show caudal narrowing in the lumbar spine but the pelvis had the features of hypochondroplasia.
Abortion, Therapeutic↗
Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births.
The aim of this study was to describe the prevalence at birth of two abdominal wall defects (AWD), omphalocela and gastroschisis and to identify possible etiologic factors. The AWD came from 265,858 consecutive births of known ouome registered in the registry of congenital malformations of Strasbourg for the period 1979 to 1998. Request information on the child, the pregnancy, the parents and the family was obtained for cases and for controls. Hundred five cases with AWD were analysed, 55.2 % were omphalocele and 44.8 % were gastroschisis. The mean prevalence rate for omphalocele was 2.18 per 10,000 and for gastroschisis 1.76 per 10,000. Associated malformations were found in 74.1 % of omphalocele compared with 53.2 % of gastroschisis; 29.3 % of fetuses with omphalocele had an abnormal karyotype, 44,8 % had a recognizable syndrome, association or an unspecified malformation pattern; 51.0 % of fetuses with gastroschisis had additional malformations that were not of chromosomal origin, but 1 case. Antenatal ultrasound examination was able to detect 39 (67.2 %) cases of omphaloceles and 27 (57.4 %) cases of gastroschisis. In 30 (51.7 %) cases of omphalocele and in 7 (14.9 %) cases of gastroschisis parents opted for termination of pregnancy. The overall survival rate was 14 (24.1 %) for omphalocele and 30 (63.8 %) for gastroschisis. Weight, length and head circumference at birth of infants with AWD were less than those of controls. The weight of placenta of infants with AWD was not different from the weight of placenta of controls. Gastroschisis was associated with significantly younger maternal age than omphalocele. Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls.
Abdominal Muscles↗
Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies.
The objectives of this study were to describe the impact of prenatal diagnosis on the birth prevalence of congenital anomalies over 21 years (1979-1999) in a well defined population in northeastern France (13,500 births per year). The material for this study came from the analysis of data from multiple sources on births and terminations of pregnancy after prenatal diagnosis of congenital anomalies in 279,642 consecutive pregnancies of known outcome. The study period was divided into three subgroups 1979-1988, 1989-1993 and 1994-1999. Between 1979-1988, 1989-1993 and 1994-1999, prenatal detection of congenital anomalies increased, respectively, from 12.0% to 25.5% and to 31.7%. Termination of pregnancy (TOP) increased in the same proportions during the three time periods. However, the increase of TOP was much higher for chromosomal anomalies than for nonchromosomal congenital anomalies. The birth prevalence of Down's syndrome fell by 80% from 1979-1988 to 1994-1999. Sensitivity of prenatal detection of congenital anomalies and TOPs were lower for isolated cases (only one malformation present in the fetus) than for multiple malformations in the same fetus. Sensitivity varied with the type of malformations: it was high for neural tube defect (79.7%) and urinary anomalies (50.7%) and low for congenital heart defects (16.4%). In conclusion, the introduction of routine prenatal diagnosis has resulted in a significant fall in the birth prevalence of children with congenital anomalies. However, this fall varied with the types of congenital anomalies.
Chromosome Aberrations↗