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At least 811 records · Page 45Linked to original sources
PubMed1986

[Ophthalmologic complications of craniofacial stenoses. Apropos of 244 cases].

The authors present a review of the most commonly observed ophthalmological troubles in 244 cases of children affected by cranio-facio stenoses and hospitalized for a first examination. The fundus examination shows that nearly all types of cranio-facio stenoses can be complicated by intracranial hypertension with potential damage on the optic nerve. The hyper and hypotelorisms, particularly frequent, carry along aesthetic prejudice and effect on the ocular motility. In the most severe forms of the diseases (Alport), pseudo-exophthalmy by retrusion of the face can justify preventive surgical procedures in emergency. Squint is frequent (36.5%). All types can be found. Finally, the authors certify the frequency and the seriousness of ocular repercussion, even in so called benign types of cranio-stenoses, such as plagiocephaly, trigonocephaly, and scaphocephaly.

Acrocephalosyndactylia↗
PubMed1987

Spontaneous mutation and parental age in humans.

A statistical analysis of parental age and the incidence of new mutation has been performed. Some new data on Apert, Crouzon, and Pfeiffer syndromes is presented and combined with all available data from the literature on parental age and new mutation. Significant heterogeneity among syndromes for the rate of increase in incidence with parental age was found. A parsimonious conclusion is that mutations fall into two groups, one with a high rate of increase with age and the other with a low rate of increase with age. For the high-rate-of-increase group, a linear model relating incidence to age is rejected, while an exponential model is not. In addition, for this group, increased paternal age cannot account for the observed increase in maternal age--that is, increased maternal age also contributes to the incidence of new mutations. For the low-rate-of-increase group, increased paternal age alone can account for the observed increase in maternal ages; also, either a linear or exponential model is acceptable. In addition, there is no evidence for a mixture of parental age-independent cases with parental age-dependent cases for any of the syndromes examined. The curves reflecting incidence of new mutation and paternal age for two syndromes, Apert and neurofibromatosis, have an anomalous shape. In both cases the curve increases up to age 37 and drops at age 42 before increasing again at age 47. The usual explanation for the effect of parental age on new mutations is the mechanism of "copy-error" at mitotic division in male sperone that specifies an increased probability of mutation with time spent by a spermatozoon or ovum in a haploid state, a period of time that may also increase with age of the parent. A firm answer to the question of parental age and new mutation awaits identification of the molecular defect underlying some of these syndromes; we will then be in a position to determine in which parent the mutation occurred and at what age it did so.

Acrocephalosyndactylia↗
PubMed1987

Radical treatment of craniofacial anomalies in infancy and the use of miniplates in craniofacial surgery.

The radical treatment of craniofacial anomalies in infancy is indicated for medical, technical, and psychosocial reasons. The major problems around the cranium, the orbits, and the face may be safely corrected by osteotomy, suture resection and disjunction, mobilization, repositioning, and reshaping of the various skeletal segments. This radical approach has been possible through the introduction of miniplate fixation. The plates and screws are removed after 3 to 6 months to take optimal advantage of the great formative power of the growing brain, which expands rapidly within the first 2 years of life. In infants, disjunction is more important than advancement, making this approach a dynamic one in contrast with the static procedures for the adolescents and adults. The complete, one-stage procedures are superior to a delayed or two-stage procedure. Experienced administration of pediatric anaesthesia and intensive care are mandatory.

Acrocephalosyndactylia↗
PubMed1987

The craniofacial dysostoses: guidelines for management of the symmetric and asymmetric deformities.

Although great diversity marks the craniosynostoses, our experience related to that from other centers allows us to draw certain conclusions for their management. For the asymmetric synostoses, operative intervention should be carried out in infancy or early childhood. Although the unilateral approach is our preferred method, the bilateral approach can yield equally satisfactory results. Surgeons should, therefore, familiarize themselves with both methods and individualize for the given deformity. Mild symmetric (upper face) synostoses are best managed in infancy or early childhood, utilizing bilateral orbital advancement with the expectation that the need for additional major surgery will be at worst 50 per cent and likely significantly less. For moderate to severe synostoses, delaying major intervention to later childhood or adolescence maximizes the chance of obtaining a satisfactory result by a single procedure, either an extended LeFort III or monoblock advancement. Individualization of each case is essential, and the need for brain and eye protection or the psychologic needs of the patient may dictate a modification of the treatment guidelines. Patients and parents must be aware that growth and development subsequent to surgery is not entirely predictable, and there may be a need for a second major intervention at a subsequent time, despite these established guidelines.

Acrocephalosyndactylia↗
PubMed1985

A comparative cephalometric study of the cranial base in craniofacial anomalies: Part I: Tensor analysis.

The method of mean tensor analysis was used to study the cranial base in six craniofacial anomalies: Crouzon's disease, Apert's syndrome, Pfeiffer's syndrome, craniofacial microsomia (CFM), Treacher Collins (TC) syndrome, and frontonasal dysplasia (FND). The form was represented by five landmarks: the nasion (N), basion (Ba), sella (S), frontomaxillonasal suture (FMN), and sphenoethmoidal registration point (SE), and the deformities were computed as mean deformations from age- and sex-matched normal mean forms. The cranial base in CFM is normal in shape. The other five syndromes manifest four distinct patterns of shape variation. Only in TC and Pfeiffer's syndrome is the cranial-base angle distinctive. In Apert's and Crouzon's syndromes, point SE is displaced anteriorly upon a cranial base, small in size but otherwise normal in shape. In TC syndrome and FND, point SE is displaced posteriorly toward the sella.

Acrocephalosyndactylia↗
PubMed1985

Craniofacial disproportions in Apert's syndrome: an anthropometric study.

Twenty craniofacial indices composed of 26 surface measurements taken directly from the head and face were determined in 14 Apert's syndrome patients 18 days to 5 years old (younger subgroup) and 14 patients ages 6 years to 15 years old (older subgroup). All of the patients were North American Caucasians who had undergone early suture release but no facial repair. The indices were compared with those in healthy controls of the same age and sex. The wide intercanthal distance in relation to the narrow soft nose was the most frequent (81.5%) and extensive (17.7% above the maximum normal index value) disproportion. Abnormal indices occurred most often with the combination of one abnormal and one normal measurement (61.0%). All seven of the 16 disproportions seen in both age subgroups increased in frequency nonsignificantly with age: the supernormal cephalic, intercanthal, nasal, and vertical mandibulofacial indices and the subnormal nasofacial, upper face, and jaws' arcs indices. Of the six disproportions that decreased in frequency with age, four changed significantly (the supernormal frontoparietal and frontozygomatic indices and the subnormal mandibulofacial and nasozygomatic indices) and two changed nonsignificantly (the supernormal intercanthoalar and subnormal cheilozygomatic indices). With the exception of two nasal proportions, the extent of the disproportionality decreased in all of the indices that increased with age.

Acrocephalosyndactylia↗
PubMed1985

Craniofacial surgery. Its evolution and application.

Craniofacial surgery is a relatively new subspecialty that offers correction for many complex congenital, traumatic, and tumor-related deformities of the head and face. An experienced and extensive craniofacial team is imperative to the long-term success of a craniofacial surgery program. A greater awareness of the syndromes and deformities involved, and of the corrections possible, leads to earlier diagnosis, appropriate early care (sometimes life-sustaining), and the establishment of proper long-term treatment plans.

Acrocephalosyndactylia↗
PubMed1985

[Apert syndrome, a plastic surgery-reconstructive problem in hand surgery?].

Success in the treatment of Apert's syndrome depends not only on the quality of surgical correction but also upon its timing. Two nearly identical patients were treated with similar good surgical results. However, one was 12 years old at the time of surgery and the other fifteen months. The infant showed a good result, while the older child had little or no profit despite the anatomical correction of his hands.

Acrocephalosyndactylia↗
PubMed1985

[Anesthesia in craniofacial interventions in childhood].

Nine children with severe craniofacial malformations underwent eleven major reconstructive craniofacial osteotomies; in two children, cranio-orbito-facial reconstructions were performed. Anaesthesia lasted from seven to eleven hours. The anaesthetic technique consisted of inhalation anaesthetics and supplementation with narcotics. Intraoperative problems were seen mainly regarding the protection of airways, the body temperature, and the extensive blood loss. At the end of anaesthesia all children were awake, three were extubated in the operating room. In children with mid-face advancement the nasotracheal tube was left in place for at least 48 hours.

Acrocephalosyndactylia↗