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At least 649 records · Page 36Linked to original sources
PubMed2004

Fronto-orbital and cranial osteotomies with resorbable fixation using an endoscopic approach.

Over the past 3 years the authors have used modified minimally invasive endoscopic techniques in the surgical correction of craniosynostosis. For selected patients, these techniques offer an alternative to traditional techniques, minimizing postoperative morbidity and the need for cranial banding. Long-term follow-up will be needed to assess the ultimate efficacy of these techniques. Traditional techniques for repair of craniosynostosis have historically had a record of excellent aesthetic results with acceptable morbidity. Ultimately, each patient is best served by a customized plan, developed and implemented by a multidisciplinary team capable of the full range of techniques.

Absorbable Implants↗
PubMed2004

From midface distraction to the "true monoblock".

In treating craniosynostosis, during the past 2 decades it has become accepted practice to perform fronto-orbital advancement and delay midfacial surgery. Corneal exposure,associated airway difficulties, and psychosocial problems remained untreated in these patients. Distraction osteogenesis assisted endoscopically offers an alternative treatment for patients with craniosynostosis, with the possibility of early midfacial surgery and simultaneous correction of the orbital-frontal deformity. The major benefit of gradual distraction is that it allows the surgeon to overcome the resistance of the overlying soft tissue envelope and offers the option of displacing the skeletal framework over greater distances, thus avoiding bone grafting. The technique also reduces morbidity and produces an improvement in form and function.

Acrocephalosyndactylia↗
PubMed2004

Correction of sagittal synostosis using a modified Pi method.

The authors' technique for the treatment of sagittal synostosis, which involves total cranial vault reconstruction and is termed the Pi procedure, is a safe, effective method for correcting the deformities associated with sagittal synostosis. It provides an immediate correction that does not require any further manipulations to the skull, such as a molding helmet. The technique addresses all the aspects of the deformity. It increases the width as well as the central height of the skull and decreases the length of the skull to produce a rounder cranial vault.

Child, Preschool↗
PubMed2005

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.

The discovery in 1994 that highly specific mutations of fibroblast growth factor (FGF) receptor 3 caused the most common form of human short-limbed dwarfism, achondroplasia, heralded a new era in FGF receptor (FGFR) biology. A decade later, the purpose of this review is to survey how the study of humans with FGFR mutations continues to provide insights into FGFR function in health and disease, and the clinical applications of these findings. Amongst the most interesting recent discoveries have been the description of novel phenotypes associated with FGFR1 and FGFR3 mutations; identification of fundamental differences in the cellular mechanisms of mutant FGFR2 and FGFR3 action; and the direct identification of FGFR2 and FGFR3 mutations in sperm. These clinical observations illustrate the pleiotropism of FGFR action and fuel ongoing efforts to understand the rich biology and pathophysiology of the FGF signalling system.

Bone Diseases, Developmental↗
PubMed2005

Ocular overelevation in adduction in craniosynostosis: is it the result of excyclorotation of the extraocular muscles?

PURPOSE: We sought to determine whether radiological evidence supports excyclorotation of the extraocular muscle cone as a cause of overelevation in adduction in children with craniosynostosis. METHODS: This was a retrospective case series of 40 patients with craniosynostosis. Ophthalmic findings were assessed for incomitant vertical strabismus in particular excessive elevation in adduction. Computed tomography and magnetic resonance imaging scans were reviewed. Those scans with adequate coronal imaging of their orbits to assess the position and angulation of the horizontal extraocular muscles were identified, and the degree of rotation of the muscles formally measured along with aged matched controls. These groups were analyzed for the association between presence of overelevation in adduction and degree of excyclorotation of the extraocular muscle cone. RESULTS: The identified updrift on adduction that mimics inferior oblique muscle overaction was present in 63% (25/40) of patients. Imaging that permitted accurate measurement of the muscles positions was available in 10 of the 40 patients. Of these 10, 8 had the updrift, and 7 of these 8 (88%) demonstrated more excyclorotation than their aged matched controls. Comparison of scan measurements of patients revealed a significant difference in degree of excyclorotation (mean difference = 16.2, 95% confidence interval 6.2-31.5; P = 0.006) between patients with and without excess elevation in adduction. CONCLUSION: Overelevation in adduction is significantly associated with excyclorotation of the extraocular muscle cone in children with craniosynostosis. We demonstrate a simple method to assess for the excyclorotation. Our findings support the importance of imaging of the orbits in these children before strabismus surgery.

Craniosynostoses↗
PubMed2004

Scoliosis of the cranial base: radiological and mathematical analysis using finite elements system analysis (FESA) of a case.

INTRODUCTION AND PROPOSED STUDY: Numerous deforming syndromes of the craniofacial complex involve also the symmetry of the cranial base. This study considers a particular alteration, that of 'scoliosis', in which the line Nasion-Sella-Basion-Inion is not rectilinear but curved, due to a torsion of the cranial base in the horizontal plane. MATERIALS: Plagiocephaly was studied in one patient, which was probably caused by altered timing or mechanism of closure of the cranial sutures. METHODS: This study was carried out using CT images of the patient's craniofacial complex, using standard neuroradiological points. In order to study the forces that operated in the various complexes, a mathematical analysis was applied namely, a finite element system analysis (FESA). RESULTS: From this mathematical study, which has enabled us to evaluate the forces that operate in determining the deformity, it has been possible to locate two sites of force concentration. They were located at different levels and on opposite sides. CONCLUSION: This finding could explain why the middle and lower thirds of the face were also involved.

Biomechanical Phenomena↗
PubMed2004

Fronto-orbital advancement with simultaneous LeFort III-distraction.

BACKGROUND: Patients with pronounced forms of craniosynostosis often suffer from hypoplasia of the facial skeleton. Different techniques have been described to correct these malformations consisting mainly of a standardised fronto-orbital advancement to correct the neurocranium followed by a conventional LeFort III-osteotomy for the correction of the viscerocranium several months later. METHOD AND PATIENTS: In order to optimise treatment, these techniques were confined into a one step procedure. This comprised a standard fronto-orbital advancement and a simultaneous LeFort III-osteotomy, followed by distraction of the facial skeleton 7 days later using a rigid external distractor (RED). RESULTS: Six patients have been treated with excellent functional and cosmetic results and a high rate of patients' satisfaction. Postoperatively, one patient suffered from rhinorrhoea necessitating revision of the base of the skull 7 days later. In a second patient, the RED distractor could not be fixed due to insufficient ossification of the skull 6 months after subtotal craniectomy. In another patient, partial necrosis of the calvarial skin occurred. No other significant adverse events occurred. DISCUSSION: Upto today the LeFort III advancement plus fronto-orbital advancement were always performed intraoperatively in one single step. When applying the distraction technique, the viscerocranium can be transposed much further than by conventional techniques. Beside this, using the external RED distractor, the distraction vector can be modified and adjusted according to clinical progress postoperatively. In addition, the time gap between the operation and start of distraction allows the soft tissues to reattach, probably reducing the risk of ascending infections. CONCLUSION: The combination of fronto-orbital advancement and LeFort III advancement by distraction can optimise the clinical outcome and lower the risk of ascending infections.

Bone Plates↗
PubMed2004

Skull deformities.

To recognize and make the proper diagnosis of a craniofacial abnormality, it is helpful for the pediatrician to understand the normal embryology, morphologic variations, and the characteristics, types, and timings of defects that can occur. It is important that pediatricians and other caregivers of infants and young children be able to recognize the common cranial abnormalities so that the families maybe properly counseled and referred to an appropriate multidisciplinary craniofacial center. Because the most common causes of distortion or asymmetry are craniosynostosis or deformation, these abnormalities are the primary subjects of this article.

Abnormalities, Multiple↗
PubMed2004

On the current incidence of deformational plagiocephaly: an estimation based on prospective registration at a single center.

In 1992, the American Academy of Pediatrics (AAP) recommended supine sleeping to reduce the risk of sudden infant death syndrome. Although the incidence of deformational plagiocephaly is unknown, the consensus is that it has increased since this recommendation was made. To estimate the current incidence of plagiocephaly, we examined 342 infants for signs of deformational plagiocephaly, including occipital flattening, ear misalignment, frontal bossing, and facial asymmetry. Noticeable occipital flattening was documented in 15.2% of the infants (95% confidence interval, 11.6% to 19.5%); 1.46% had significant cranial deformities that also affected the skull base and face. Significant cranial asymmetry, defined as occipital flattening with concomitant skull base involvement and facial asymmetry, was observed in almost 1 in 68 infants. Adding to a growing body of evidence, our findings suggest significant increases in clinical deformational plagiocephaly since initiation of the AAP's "Back to Sleep" campaign.

Confidence Intervals↗
PubMed2004

Craniosynostosis syndromes in the genomic era.

The origin of craniosynostosis is heterogeneous: hereditary, mechanical, teratogenic, and idiopathic. Craniosynostosis is further defined by the suture(s) involved and whether it is syndromic or nonsyndromic. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. Nonsyndromic craniosynostosis is usually confined to cranial changes. The most common syndromic synostoses reflect changes in fibroblast growth factor receptor (FGFR) activity related to mutations in the genes coding for these receptors. Other genes have been implicated in craniosynostosis syndromes. Several craniosynostosis syndromes are caused by mutation of the same FGFR, making the eponymic designation (eg, Crouzon's or Pfeiffer's syndrome) unclear. Ultimately, syndrome eponyms may be replaced by designation of the underlying mutation. Neurologic complications may include mental retardation, increased intracranial pressure, and cranial nerve abnormalities. Craniosynostosis syndromes require careful physical examination, radiological investigation, and now molecular evaluation to predict outcome and risk of recurrence.

Cranial Nerve Diseases↗
PubMed2004

The effects of craniosynostosis on the brain with respect to intracranial pressure.

Intracranial pressure (ICP) and skull volume are intricately related. Craniosynostosis alters skull volume, and the many forms of craniosynostosis complicate the relationship to ICP even further. Patients with single-suture synostosis are less likely to experience elevated ICP than patients in whom multiple sutures, craniofacial syndromes, or both are involved. Among patients with more than one suture involved, the multifactorial mechanisms underlying elevated ICP include cephalocranial disproportion and venous outflow obstruction. Direct monitoring of ICP for at least 24 hours can aid in the diagnosis and decision making process. The management of craniosynostotic patients is diverse and necessitates a long-term plan for follow-up.

Brain↗
PubMed2004

Blood sparing in craniosynostosis surgery.

One of the main risks of craniosynostosis surgery is the possible need for an allogenic blood transfusion (ABT). Most patients are operated on in the first months of life, when physiological conditions are particularly sensitive to even limited blood losses. Furthermore, most surgical techniques proposed in the past were based on extensive craniectomies and cranial remodeling. Because of the known infective and immunologic risks of ABT, in recent years more attention has been dedicated to factors that might help reduce the risk of ABT. We review recent preoperative (ie, erythropoietin administration), intraoperative (ie, acute normovolemic hemodilution, intraoperative blood salvage), and postoperative (ie, clinical monitoring, postoperative blood salvage) anesthesiologic procedures developed with this aim in mind. We also consider operative techniques and technical apparatus that reduce surgical invasiveness, particularly preoperative planning, age selection, and the role of endoscopic assistance and gradual distraction devices.

Blood Loss, Surgical↗
PubMed2004

The circle of sagittal synostosis surgery.

Sagittal synostosis, the premature closure of the sagittal suture, accounts for more than 50% of all nonsyndromic single-suture synostoses. Although no detrimental neurologic effects can be directly attributed to the synostosis, a number of patients will have relatively increased intracranial pressure. Surgical correction for sagittal synostosis has evolved from simple removal of bone strips to extensive cranial remodeling, all in a attempt to achieve a normal head shape. The lack of outcome measures has limited the surgeon's ability to choose one surgical procedure over another. The use of a cranial helmet for passive molding of the head after surgery is effective when used with limited endoscopic surgery. We present the results of using an extended strip craniectomy combined with long-duration molding helmet therapy and compare it with other reported methods. The results suggest that passive molding with the helmet may have a greater effect on cranial shape than surgery.

Craniosynostoses↗
PubMed2004

Cognitive impact of craniosynostosis.

This article reviews the data on the effects of synostosis on cognitive development and the role of surgical intervention in ameliorating these effects. The literature on children with single-suture craniosynostosis, treated both surgically and conservatively, is reviewed. The evidence for possible pathophysiological mechanisms by which brain restriction might affect cognitive development is also reviewed. Although children with single-suture isolated craniosynostosis may be at risk of developmental delay, learning disability, or both, especially with regard to speech or language skills, available testing methodologies provide no evidence of an association between surgical intervention and ultimate intellectual outcome. Despite the controversies about the role of surgery in addressing the cognitive sequelae of simple craniosynostosis, in the absence of definitive data, the indications for surgery include correction of deformity and minimization of cognitive sequelae. The relative risks of performing surgery early or late must be determined on an individual basis, balancing potential cosmetic and cognitive benefits against the heightened risk of reoperation or perioperative morbidity.

Child↗
PubMed2006

Early surgical treatment of nonsyndromic craniosynostosis.

BACKGROUND: Craniosynostosis, a premature fusion of cranial sutures, can happen as an isolated defect (nonsyndromic) or as part of a syndrome. It may lead to raised intracranial pressure and deformity of both the cranial and facial skeletons. Early surgery is usually the best treatment choice. The aim of this study was to review the experience of a multidisciplinary staff with the surgical treatment of nonsyndromic craniosynostosis. METHODS: All the nonsyndromic craniosynostosis cases treated surgically from 1991 to 2005 at 2 neurosurgical centers were reviewed. The variables analyzed were sex, age, weight, type of deformity, estimated volemia, surgical technique, surgical time, blood loss, PO hospitalization time, and complications. All data were stored in a database and analyzed with Microsoft Access (Microsoft Corp, Seattle, WA) and SPSS V11.0 (SPSS, Inc, Chicago, IL). RESULTS: The sample consisted of 120 patients (70 males, 50 females). Six patients were excluded because of their atypical timing of treatment (average age, 72 months). The final average age was 7.08 months (variation, 1-18), and the average weight was 7.8 kg. The types of deformities found were scaphocephaly (n = 54, 45%), plagiocephaly (n = 27, 22%), trigonocephaly (n = 19, 16%), brachycephaly (n = 16, 13%), and oxycephaly (n = 4, 3%). The mean surgical time was 186 minutes and the mean PO hospitalization time was 6.8 days. The mortality on this series was 2.6% (3 patients). In the last operated cases, a significant improvement in morbid-mortality was observed. CONCLUSION: A multidisciplinary approach, including neurosurgeons, neurologists, and pediatricians, and appropriate training of the clinical surgical staff can minimize the risks and decrease the complications in the treatment of craniosynostosis, leading to a satisfactory outcome.

Age Factors↗
PubMed2006

Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation.

Targeted disruption of Axin2 in mice induces skeletal defects, a phenotype resembling craniosynostosis in humans. Premature fusion of cranial sutures, caused by deficiency in intramembranous ossification, occurs at early postnatal stages. Axin2 negatively regulates both expansion of osteoprogenitors and maturation of osteoblasts through its modulation on Wnt/beta-catenin signaling. We investigate the dual role of beta-catenin to gain further insights into the skull morphogenetic circuitry. We show that as a transcriptional co-activator, beta-catenin promotes cell division by stimulating its target cyclin D1 in osteoprogenitors. Upon differentiation of osteoprogenitors, BMP signaling is elevated to accelerate the process in a positive feedback mechanism. This Wnt-dependent BMP signal dictates cellular distribution of beta-catenin. As an adhesion molecule, beta-catenin promotes cell-cell interaction mediated by adherens junctions in mature osteoblasts. Finally, haploid deficiency of beta-catenin alleviates the Axin2-null skeletal phenotypes. These findings support a model for disparate roles of beta-catenin in osteoblast proliferation and differentiation.

Animals↗