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D Rénier

Publications and source records attributed to D Rénier.

7 recordsLinked to original sources
PubMed2003

Prenatal ultrasound diagnosis of fetal craniosynostosis.

OBJECTIVE: Craniosynostosis is defined as the premature closure of the calvarial sutures. The prevalence of this heterogeneous condition is 1 in 2000 and approximately 100 different forms have been described with an established genetic transmission in half of them. Prenatal diagnosis of craniosynostosis relies mainly on identification of associated anomalies and molecular analysis of fetal DNA, which is only feasible in some syndromic forms and in well-documented families. The objective of this study was to investigate the value of prenatal ultrasound examination of cranial sutures in fetuses at risk for craniosynostosis. METHODS: Forty fetuses at risk for craniosynostosis on the basis of either a family history (Group 1, n = 16) or skull deformity suspected on a first-level fetal ultrasound examination (Group 2, n = 24) were retrospectively investigated. Craniosynostosis was suspected on the basis of skull deformities when present, however the diagnosis was only made in cases where there was a loss of hypoechogenicity of the normal sutures. All infants had both clinical and radiological investigations performed postnatally. RESULTS: In Group 1, serial ultrasound examination from 12 weeks' gestation onwards led to accurate prenatal diagnosis in all 16 cases. Dysmorphism and skull deformity preceded closure of the sutures by 4 to 16 weeks. In Group 2, prenatal diagnosis was correct in 23/24 cases. There were no false-negative results in either group. CONCLUSIONS: This series questions further the uncertain genetic determinism of craniosynostosis and seems to rule out the hypothesis of a deformation sequence following primary closure of the cranial sutures. It also suggests that ultrasound examination is useful to demonstrate closure of the sutures in the third trimester of pregnancy in most affected cases.

Craniosynostoses↗
PubMed1999

Syndactyly in Apert syndrome. Utility of a prognostic classification.

The authors report a series of 36 patients of Apert's Syndrome in whom a genetic analysis was performed. 2 major types of mutation were found (S252W and P253R). The correlation between the type of mutation and certain clinical abnormalities allowed validation of Upton's modification of Blauth's classification and also helped add a prognostic indicator for the intellectual development of the child. Thus, global treatment of the child should take into account not just the clinical abnormalities but also its intellectual prospects.

Acrocephalosyndactylia↗
PubMed1995

Intellectual outcome in children with malignant tumors of the posterior fossa: influence of the field of irradiation and quality of surgery.

The purpose of this study was to determine the respective parts played by cerebral hemisphere irradiation, posterior fossa irradiation, and surgery in the poor late functional results often observed in children treated for medulloblastoma. To do this we compared the intellectual outcome in a series of 59 children operated on for medulloblastoma, who had received whole-brain irradiation, to that observed in a series of 37 children operated on for ependymoma of the posterior fossa, who had received radiotherapy only on the posterior fossa. Only patients who had survived for more than 2 years without recurrence were included. At the assessment 1 year after treatment, intellectual outcome was somewhat better in the ependymoma group, but the difference was not statistically significant. At the long-term follow-ups at 5 and 10 years the results remained stable in the children treated for ependymoma, around 60% having an IQ above 90, whereas the intellectual level of the children treated for medulloblastoma was seen to have deteriorated progressively: 20% had an IQ above 90 5 years after treatment and only 10% at the 10-year follow-up. This progressive degradation is most likely due to the irradiation of the cerebral hemispheres, as this prophylactic irradiation constituted the only difference between the two groups. Moreover, irradiation to the posterior fossa did not seem to affect intellectual functions, since in the group of children with ependymomas the proportion of IQs above 90 was high and remained stable over the years. Surgery was certainly responsible for some poor results. The percentage of IQs above 90 observed 1-2 years after treatment was between 70 and 80 when no postoperative complications occurred, and only between 20-40% in the presence of postoperative complications. Postoperative aggravation was in most cases related to a brain-stem lesion. These results encourage the reduction, when possible, of irradiation to the cerebral hemispheres and underline the importance of the quality of surgery.

Achievement↗
PubMed1988

[Treatment of malignant intracranial germ-cell tumors in children. 7 cases].

Seven children, aged from 9 to 16 years, with intracranial germ cell tumour received post-operative chemotherapy prior to radiotherapy. Treatment consisted of several courses of vinblastine, bleomycin and cisplatin alternating or not with courses of cyclophosphamide and actinomycin D. In the 6 children whose tumours secreted alphafoetoprotein or chorionic gonadotrophin, chemotherapy brought these markers down to normal. Tumoral regression at radiology exceeded 75 per cent in 6 patients. These results demonstrate the effectiveness of chemotherapy against intracranial germ cell tumours such as pure germinomas or secreting tumours. They encourage the systematic use of pre-irradiation chemotherapy in order to reduce the radiation doses delivered and to improve the prognosis.

Adolescent↗
PubMed1972

[Epilepsy. 1].

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Electroencephalography↗