Biomedical subjects
Publications and source records attributed to C Francannet.
We report on 3 girls and one boy from 2 sibships with Fraser syndrome and renal agenesis. They were born to consanguineous parents, which supports an autosomal recessive mode of inheritance.
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We report on two cases of children suffering from biopterin synthetase deficiency. Both were treated with the same treatment schedule with biopterin and neurotransmitters: 6-hydroxytryptophan and dihydrophenylalanine (DOPA). The only difference between the two cases is the time of diagnosis and therefore of treatment. The child who was treated early has a normal neurologic development. The other one has been treated since he was 7 months old and is mentally deficient (DQ = 0.60). This older child also suffers from dystonia probably secondary to Levodopa treatment. The authors emphasize the uncertainty of these patient's evolution owing to complications of the disease itself or those due to prolonged treatment by neurotransmitters.
The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.
The authors describe a population-based birth defects registry, started in 1976. The system surveys about 85,000 births per year, occurring in 140 maternity units and representing more than ten per cent of all the births in France. Monitoring first covered the Rhône-Alpes region, then was extended to the Auvergne region in 1983 and to the Jura district in 1985. The method of investigation was "multi-source", because any doctor in the zone covered was in a position to notify a malformation to the registry. (497 obstetricians, pediatricians, pediatric surgeons, fetopathologists, geneticists and cytogeneticists). Malformations were coded with a specific terminal elaborated in the registry (1,600 items). The mothers' exposures to drugs during the first trimester of pregnancy were coded by trade names. The registry is a full member of the International Clearinghouse for Birth Defects Monitoring Systems, an international organisation now including in this group 25 regional or national birth defects registries and covering more than 3 million births per year. The 1986 results of monitoring birth defects in the described registry are given as examples. Within the eleven years (1976-86), 15,000 cases of malformations were registered, and two clusters have been detected and followed-up: femoral aplasia/hypoplasia in 1980-81 and oesophageal atresia in 1984. No cause was found for these "epidemics". The strong association between in utero exposure to valproic acid with spina bifida is the main result of the activities of the registry since its creation.
The authors report 5 cases of congenital hydrocephalus due to isolated stenosis of the aqueduct of Sylvius. In the first three cases (2 brothers and 1 sister) ventriculograms showed apparent obstruction of the aqueduct. A valve shunting was necessary at 1 month of age in cases 1 and 2, at 3 years of age in case 3. In cases 4 and 5 (1 brother and 1 sister) ultrasonic prenatal diagnosis showed ventriculomegaly and pregnancies were interrupted respectively at 31 and 28 weeks of gestational age. The pedigree of the families suggests that the inheritance of this abnormality is autosomal recessive. Such an inheritance is very unusual and confirms the difficulty of genetic counseling facing the first occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family. The prenatal diagnosis is based on fetal ultrasonic examination and may be obtained late in the pregnancy leading to therapeutic and ethical tricky decisions.
The authors report a case of Schwartz-Jampel syndrome (osteo-chondro muscular dystrophy with myotonia). The diagnosis was made when the child was 3 1/2 year old. Then, there were no clinical symptoms; however, the electromyographic and histologic patterns of the disease were found. Two years later, the clinical status provided confirmation of the diagnosis. The discussion focuses on the difficulty of the diagnosis and the relevance of electrophysiological studies and muscular biopsy in order to distinguish this disease from others with similar clinical pattern (as Freeman-Sheldon, or Marden Walker syndromes).
A partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. We hypothesize that a gene responsible for the function or structure of androgen receptors might be localized in the 11p13 band or in close proximity to it.
The authors report the results of 221 post-mortem examinations of fetuses, newborns, and infants performed during 26 months and theirs involvements in genetic counselling. 10,8% of these cases are provided by therapeutic terminations of pregnancy; necropsy confirmed the diagnosis afforded except for maternal infectious diseases contracted during pregnancy in which post-mortem examination revealed generally no abnormality. Genetic diseases represented 33,7%: in these cases anatomic examination took variable role, it is more important in multivisceral malformative syndromes, sudden death of infancy, and histologically prominent feature diseases. In 38,5% of cases, medical acquired disease were found; it elucidated cause of death and generally permitted to carry out favourable genetic counselling. At least 17,1% of cases stayed unexplained after necropsy.
The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.