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Biomedical subjects

D Renier

Publications and source records attributed to D Renier.

At least 73 records · Page 4Linked to original sources
PubMed1997

[Craniosynostosis and faciocraniosynostosis].

The authors present a review of the aetiopathogenesis and treatment, based on a series of 1321 craniostenoses operated by the Enfants Malades team. After briefly reviewing the embryology of craniofacial growth, the authors describe the morphological classification of craniostenoses and their morphological and functional consequences. The main neurosurgical problems related to craniofacial surgery are described. The surgical techniques currently used by the unit are described for each type of craniostenosis, according to age: H or flap transposition craniectomies for scaphocephaly, unilateral advancement of a bilateral head-band for plagiocephaly, anterior transposition for oxycephaly, and fronto-orbital adbancement for brachycephaly. The results are presented with a follow-up of several years. The principles of one-stage or two-stage surgical treatment for the main types of faciocraniostenosis are recalled: initial fronto-orbital advancement then secondary treatment of maxillary recession. The prospects of one-stage combined treatment with early maxillary distraction are proposed. Surgical indications are described. The complications, morbidity and mortality are indicated for the series. It must be remembered that craniostenosis surgery is a form of plastic surgery with neurosurgical complications. To obtain optimal results with the lowest risk, craniofacial must be performed by multidisciplinary teams in specialized centres.

Child↗
PubMed1997

[Mental prognosis of trigonocephaly and therapeutic implications].

The authors assessed the long-term mental prognosis of trigonocephaly, in a series of 76 operated cases. Mental prognosis factors were studied, showing that early cranial release and reconstruction were effective. Final assessment of mental development was performed on children of school age, and was based on the development of behavioral disturbances, learning disability, school difficulties, and intellectual efficiency. Children were graded into 3 groups: no abnormality, mild abnormalities with normal socialization, major abnormalities; 31.6% presented disorders. Preoperative C-T scans assessed the severity of the cranial deformity and identified associated intracranial abnormalities, such as agenesis of the corpus callosum, dilatation of the subdural spaces, or hydrocephalus. Associated extracranial malformations, and associated family cases were also noted. Finally, the quality of the family context was studied. Several correlations were identified; mental development was correlated with the severity of frontal stenosis, the age at surgery and the associated extracranial malformations. Family environment also had a major influence. Intracranial abnormalities were not correlated with mental development.

Child, Preschool↗
PubMed1997

[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects].

Antley-Bixler syndrome was first described in 1975, and to date, 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped nose", dysplasic ears, and occasionally urogenital or cardiac defects. Survival is closely linked to upper airway obstruction, which also affects (with craniosynostosis) mental prognosis. Association and severity of malformations are variable, and while numerous children have died early from respiratory distress, one third of them are alive, and have had quite satisfactory development. With early and effective prevention of respiratory complications, and early treatment of craniosynostosis, overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive and midtrimester prenatal diagnosis is feasible; genetic counseling depends on accurate prognostic and therapeutic data. We describe 2 further cases. The first a 4 years old male, with unilateral coronal synostosis and radiohumeral synostosis predominating on the same side. The second an 18 months old female, with brachycephaly and an imperforate anus.

Abnormalities, Multiple↗
PubMed1997

[The history of cranioplasty].

Cranioplasties were first performed at the dawn of the history of medicine, as they usually constitute the repair phase of trephination. In preColumbian civilizations, they usually consisted of simple interposition of metal sheets under the scalp. Hippocrates and especially Galien prohibited this surgery and their principles were respected until the 18th century, although a remarkable surgeon, Van Meekeren, succeeded in performing a heterologous cranial bone graft from dog to man in 1668. The discovery of the osteogenic role of periosteum by Duhamel in 1742 opened the way to new research. During the 19th century, there was an extraordinary growth of science, during which all of the bases of the modern medical approach were established. For example, the studies by Ollier in 1859 allowed the first cranial reconstructions by heterologous, homologous and autologous bone transfers. The large number of head injuries left by the First World War promoted the growth of bone cranioplasties, as shown by Delagénière. The discovery of antibiotics allowed the reintroduction of cranioplasties using inert materials such as acrylic resins. However, their excessive use was complicated by numerous cases of infectious rejection. At the end of the 20th century, microsurgery and molecular biology have provided solutions, but have still not resolved the dilemma between reconstructions by autologous or foreign materials.

Animals↗
PubMed1996

Genetic study of scaphocephaly.

From a series of 1,408 patients with craniosynostosis hospitalized between 1976 and 1994, 561 probands with non-syndromal isolated sagittal synostosis were analyzed. The prevalence of sagittal synostosis was estimated in the order of 1 in 5,000 children. Family information was obtained from 373 probands distributed among 366 families. The male:female ratio was 3.5:1. There was no maternal or paternal age effect. In 22 of the 366 pedigrees, a high degree of familial aggregation was observed, giving a 6% figure of familial cases. Segregation analysis of 253 families indicates that sagittal synostosis is transmitted as a dominant disorder with 38% penetrance and 72% of sporadic cases. The frequency of twinning was 4.8% with only 1 concordance for sagittal synostosis in a monozygotic twin pair. The possibility of a mechanical pathogenesis in sporadic cases is discussed.

Adolescent↗
PubMed1996

Increased bone formation and osteoblastic cell phenotype in premature cranial suture ossification (craniosynostosis).

Craniosynostosis is a heterogeneous disorder characterized by premature fusion of the skull bone sutures. To evaluate the pathogenesis of premature cranial suture ossification in craniosynostosis, we have evaluated the histologic indices of bone formation and the characteristics of osteoblastic cells derived from normal and affected cranial sutures in 47 infants and children, aged 3-18 months, with nonsyndromic craniosynostosis. The histomorphometric analysis of normal and fused sutures showed an age-related decline in the extent of endosteal bone surface covered with osteoid and osteoblasts during postnatal suture ossification. Bone formation was 20-50% higher at 3-6 months of age in fused sutures compared with normal sutures in the same patients. Cells derived from normal and fused sutures displayed characteristics of the osteoblast phenotype in culture. Analysis of [3H]thymidine incorporation into DNA from 1-14 days of culture showed an age-related decrease in osteoblastic cell growth in both normal and affected sutures. The proliferation of osteoblastic cells isolated from fused sutures was similar at all ages to that of cells isolated from normal sutures in the same patients. In contrast, alkaline phosphatase activity and osteocalcin production by osteoblastic cells cultured in basal conditions and after stimulation with 1,25-dihydroxyvitamin D (1,25[OH]2D3), were 53-74% higher in fused sutures compared with cells isolated from normal sutures in the same patients. The results indicate that bone formation activity at the suture site is locally increased in craniosynostosis, and this disorder is associated with increased in vitro parameters of osteoblastic cell differentiation, suggesting that an increased maturation of osteoblastic cells at the site of the suture leads to the premature ossification in nonsyndromic craniosynostosis.

Aging↗
PubMed1996

Faciocraniosynostosis: from infancy to adulthood.

Faciocraniosynostosis patients require continuous care from early infancy to adolescence, the problem being first cranial, then facial, and finally facial harmony. In this lecture the author's personal experience with patients affected by Crouzon and Apert syndromes is described. Advantages and disadvantages of the different surgical procedures are described, and early and late results are discussed in terms of cosmetic and functional correction.

Acrocephalosyndactylia↗
PubMed1996

Desmoplastic supratentorial neuroepithelial tumours of childhood: imaging in 5 patients.

Desmoplastic neuroepithelial tumours are rare supratentorial neoplasms of infancy with a favourable prognosis. We characterised their imaging findings by reviewing the clinical and radiological reports of five affected children. The tumours were massive, predominantly cystic and with preferential frontal and parietal lobe involvement. The cystic component was in the white matter, with no communication with the ventricle. The solid part was superficially, abutting a meningeal surface, and showed intense contrast enhancement. A heterogeneous predominantly solid mass was observed in one patient. Thinning and deformation of the skull adjacent to the tumour was shown in four cases. Peritumoral oedema was absent or moderate. No calcification or haemorrhage were present. Angiography showed a tumour blush from the internal or external carotid arteries in one case each. Follow-up (3 months-9 years, mean 4.5 years) showed no recurrence.

Angiography↗
PubMed1996

Possible genetic heterogeneity in the Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome is an autosomal dominant acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p. Cytogenetic and linkage analyses have enabled the interval encompassing the disease gene to be delimited to a short region of chromosome 7p15.3-p21.2. Based on the genetic analysis of three unreported families, we confirm the location of the disease gene(s) in the interval defined by loci D7S664 and D7S493 (Zmax = 4.78 at [symbol: see text] = 0 at the D7S488 locus) but fail to decide whether one or more disease-causing genes map in this genetic interval.

Acrocephalosyndactylia↗
PubMed1996

[Mental prognosis of Apert syndrome].

BACKGROUND: Mental retardation, considered as common in Apert syndrome could be in part due to associated brain abnormalities. POPULATION AND METHODS: Sixty patients (32 males, 28 females) were included in the study. Patient age at the last examination was over 3 years (mean 10 years, range 3-28 years) in 38 patients. IQ was assessed from psychometric tests adapted for age. Brain anatomy was studied by MRI. Age at operation and quality of familial environment were also evaluated. RESULTS: The IQ was over 70 in 12 patients (32%), over 90 in five (13%) and the mean IQ was 62 (10-114). Thirty percent of patients had abnormalities of the corpus callosum, 43% of the cerebral ventricles and 55% of the septum pellucidum. There was no anomaly in 28% of the patients. One or more operations were performed in 53 patients, before one year of age in 37. Ten children were institutionalized or in deleterious family situation. The main factor influencing the mental prognosis was the age at operation: the final IQ was over 70 in 50% of the children operated on before one year of age versus 8% in those operated on later (P = 0.01). Only the anomalies of the septum pellucidum seemed to play a role: 50% of the patients with normal septum had an IQ > 70 compared to 18% in those with septum anomalies (P < 0.04). The quality of the familial environment also influenced the mental development: 12.5% of the patients who were institutionalized or in difficult familial situation had an IQ > 70 compared to 39% of those who live in a normal family. CONCLUSIONS: Careful investigation including MRI is necessary for detecting associated brain abnormalities. The patients must be operated on early, if possible before the age of nine months. Attention has also to be paid to quality of the sociofamilial environment.

Acrocephalosyndactylia↗
PubMed1996

[Chiari "malformation" in Crouzon syndrome].

BACKGROUND: Use of MRI makes the association Chiari malformation-cranio-facial synostosis more frequent than expected. The aim of this work was to ascertain the true incidence of Chiari malformation and to understand the reasons of the association between a bone pathology and a CNS malformation. PATIENTS AND METHODS: The anatomy of the posterior cranial fossa in Crouzon syndrome was retrospectively studied on MRI scan in 49 patients. RESULTS: A chronic tonsillar herniation, similar to a Chiari malformation, was observed in 71.4% of the cases. All the patients with Crouzon syndrome and progressive hydrocephalus had a Chiari malformation, but only 19 out of the 33 patients without associated hydrocephalus had a Chiari malformation (57.6%). Significant differences between the pattern of lambdoid suture closure were founded between both groups, with and without Chiari malformation, the lambdoid closure appearing earlier in patients with Chiari malformation. CONCLUSION: The high incidence of chronic tonsillar herniation in Crouzon syndrome seems related to the premature synostosis of the lambdoid suture.

Actuarial Analysis↗
PubMed1996

Insidious craniosynostosis and chronic papilledema in childhood.

PURPOSE: We studied a case of chronic papilledema in a 5-year-old child with visual loss who presented no obvious cosmetic abnormalities. METHODS: Neuroradiologic investigations were suggestive of craniosynostosis. The child underwent decompressive cranial surgery. Postoperatively, the papilledema totally regressed, and visual acuity recovered to 20/20 in both eyes. RESULTS: The chronic papilledema was confirmed to be related to harmonious oxycephaly. CONCLUSION: Insidious craniosynostosis is an unusual cause of chronic papilledema in childhood. The papilledema may be resolved and visual loss prevented by surgery.

Child, Preschool↗
PubMed1996

[Mental prognosis in scaphocephaly].

BACKGROUND: The mental prognosis of scaphocephaly remains a controversial issue, and surgery is performed for functional or aesthetical reasons without clear evidence in the literature of which is the most important. PATIENTS AND METHODS: Three hundred and ninety six children with scaphocephaly were prospectively studied to analyse the correlation between age, intracranial pressure (ICP) and mental outcome. Before any treatment, the intracranial pressure was recorded (systematically during the first period of the study); the mental level was evaluated at first consultation and after a mean five-year follow-up. The mental evolution was compared whether the child was operated or not. RESULTS: The mental outcome of the patients was good in most of the cases whether or not they had been operated. There were significantly more normal patients in the scaphocephalies seen before one year of age at first consultation (P < 0.001) than in those seen after one year of age. There were significantly more abnormally high intracranial pressure cases in the group of patients who were seen later than one year of age (P = 0.0015). There were more retarded patients in the group with increased ICP, but the difference was not significant (P = 0.17). There was no correlations between ICP and final IQ neither in operated nor in non-operated patients. Conversely, a correlation was found between the early and late psychometric assessments in all patients. CONCLUSIONS: The main predictive factor of mental outcome appears to be the initial developmental level. Since the mental level was worse in the older children, and since the surgery does not influence the functional outcome when the initial mental level is low, we can conclude that the indication to perform surgery in scaphocephaly is sometimes not only a cosmetic problem.

Child Development↗
PubMed1996

Prognosis for mental function in Apert's syndrome.

The factors involved in the mental development of patients with Apert's syndrome were studied by the authors, focusing on the age of the patient at operation, associated brain malformations, and the quality of the family environment. Overall, 32% of patients with significant follow-up review had an intelligence quotient (IQ) greater than 70. Age at operation appeared to be the main factor associated with changes in mental development: final IQ was greater than 70 in 50% of patients operated on before 1 year of age versus only 7.1% in patients operated on later in life (p = 0.01). Malformations of the corpus callosum and size of the ventricles played no role in the final IQ, whereas anomalies of the septum pellucidum had a significant effect, with the proportion of patients with an IQ over 70 increasing more than twofold in patients with a normal septum compared with patients with septal anomalies (p < 0.04). Quality of the family environment was the third factor involved in intellectual achievement: only 12.5% of institutionalized children reached a normal IQ level compared to 39.3% of children from a normal family background.

Acrocephalosyndactylia↗
PubMed1996

[Lack of ossification of the skull after surgery for craniosynostosis. A study of risk factors apropos of 592 cases].

The Center for Craniofacial Anomalies of Necker-Enfants-Malades Hospital presents a retrospective study of the outcome of 592 patients who were operated for craniosynostosis between 1976 and 1991. The quality of ossification one year after operation is reported with a focus on influencing factors. The lack of ossification rate is 5% (30/592). Three parameters are identified as increasing the risk of poor osseous wound healing: local postoperative infection, forehead advancement especially when accomplished with resorbable osteosynthesis, and brachycephaly. On the contrary, repaired tears of the dura mater do not seem to pose a risk. Seventy five per cent of patients with local infection and 12.4% of forehead advancement presented a lack of ossification which is statistically significant (p < 0.001). Lack of ossification can compromise aesthetic and functional results. Decreasing postoperative infection and stable fixation may help to avoid it.

Child, Preschool↗
PubMed1996

[Outcome of nasal deviation in plgiocaphaly after bilateral frontocranial modeling in childhood].

The deviation of the nasal root is one of the major deformities in unilateral coronal synostosis. The objectives of this study are to evaluate the results of bilateral frontocranial remodeling on nasal deviation, focusing on the patient's age at the time of the operation. All the patients undergoing bilateral frontocranial remodeling for plagiocephaly and followed for a minimum of 5 years postoperatively, without any other craniofacial surgery were included in the study. Based on photographic data, 42 patients were assigned to one of 4 morphologic categories: M1 = absence of nasal deviation; M2 = minor nasal deviation with no or minor revision required; M3 = severe nasal deviation with major alternative osteotomies required or performed; M4 = major nasal deviation with major craniofacial procedure and bone-grafting required or performed. Thirty-nine patients presented with significant nasal deviation before surgery. Ninety-two percent had a morphologic improvement and 62% had no residual nasal deviation (M1) more than 5 years after the procedure. The best results were obtained in patients operated between the ages of 12 and 24 months. All patients who underwent surgery during this period obtained improvement of the deformity, and 90% had no residual deviation. In contrast, when patients were operated before the age of 12 months, 91% obtained improvement of the nasal deformity, and 57% were assigned to the M1 category. Additionally, surgery performed between the ages of 2 and 4 resulted in 67% of partial correction and 33% of ideal correction. The most difficult age group to correct were children 4 years and older. Of the 4 patients in this group, one required major secondary reconstruction (M3), and only one patient achieved complete correction. Although the endpoint for correction is an aesthetic assessment, cephalometric analysis was also performed in 29 cases. Comparison of the evaluations gave equivalent results.

Child↗
PubMed1995

Genetic study of nonsyndromic coronal craniosynostosis.

From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 +/- 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases.

Adult↗