SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A girl with partial deletion of the short arms of one chromosome 7 is described. Among many other symptoms she has craniosynostoses. Early closure of cranio-sutures has previously been described in 2 of 3 patients with partial deletion 7. Investigation of a number of genetic marker systems shows that the HL-A, MN, AcP, and GPT loci are not located in the deleted segment.
Eighteen patients with nonsyndromic craniosynostosis underwent fronto-orbital remodeling with an advancement-onlay technique. The mean age of the infants was 5 months (range = 2-11 months) when the procedure was performed for the following indications: unilateral coronal synostosis (n = 10); bilateral coronal synostosis (n = 3); metopic synostosis (n = 2); and multiple craniosynostoses (n = 3). The technique consists of (1) unilateral or bifrontal craniotomy, (2) superior orbital rim recontouring and advancement, and (3) frontal bone graft rotation and onlay. Posteriorly, the frontal bone graft is left "floating," while anteriorly, rigid fixation with microplates and screws has supplanted wire osteosynthesis. The use of rigid fixation prevents uncontrolled "float" of the forehead and eliminates the need for temporal struts. Follow-up time ranged from 6 to 60 months (mean = 2.6 years). There were no serious postoperative complications. Surgical results were good to excellent in 94% of cases and poor to fair in 6%. Only 1 patient with a Kleeblattschädel deformity required major revision, while another patient with trigonocephaly underwent a minor, extracranial recontouring procedure. Supraorbital rim and/or forehead recession suggestive of relapse or initial inadequacy of anterior projection occurred in 3 patients (17%). Residual, mild contour abnormalities of the forehead and/or temporal regions were found in 5 cases. To date, no gross disturbances in craniofacial growth related to our method of rigid fixation have been observed and no clinically detectable resynostosis has occurred.
The standardized bilateral fronto-orbital advanced method of osteotomy established at the University of Wuerzburg is applied in all forms of craniosynostosis except scaphocephalus. The intention behind early operation is to halt progression of the disorder and to institute the physiological direction that growth should take. The preoperative severity of the disorder, the particular symptoms of the various malformations concerned, and the postoperative course of growth were analyzed and assessed both clinically and cephalometrically using the retrospective evaluations of the file data of 131 children with various forms of craniosynostosis. In contrast to linear craniectomy and so-called lateral canthal advancement, which have sometimes been thought to lead to undesirable postoperative growth development, only 11 relapses requiring renewed operation were found postoperatively in our own study of 131 children. It became evident that the greater the severity of the malformation, the more probable it was that a relapse would occur. Fronto-orbital advancement can only affect the pathological growth pattern to a limited degree, especially when craniosynostosis is related to a syndrome. Cephalometric evaluation confirmed the limited potential for growth in the area of the anterior skull base and in the mid-face in the presence of syndrome-related brachycephaly and severe facio-craniosynostoses. In such clinical cases, compensatory growth of maxillary hypoplasia cannot be expected after fronto-orbital advancement.
A critical analysis of functional and morphological aspects of Apert and Crouzon syndromes is presented, with reference to the papers presented in this session of the Consensus Conference on Craniosynostoses. Targets and limits of surgical correction are also discussed.
Craniosynostosis affects approximately one infant out of one thousand. Increase of intracranial pressure and risks of functional problems are more frequent than previously thought, especially in single-suture synostosis. Frontocranial remodeling will correct both functional and esthetic consequences of craniosynostosis. The best time for surgery is the first year of life, 2-3 months of age for the brachycephalies, and 6-9 months of age for the other craniosynostoses. Not only does growth not deteriorate after forehead remodeling, but the adjacent orbitonasal areas improve with time. In Crouzon's disease and Apert's syndrome, early frontal advancement does not prevent the midface retrusion, and a radical frontofacial advancement may be occasionally indicated in very severe cases. Frontocranial remodeling is also indicated in children presenting with sequelae of classical neurosurgical treatment or those who have had no treatment.
Lambdoid synostosis can manifest unilaterally, bilaterally or in combination with other craniosynostoses. Using the concept of fronto-orbital advancement we developed occipital advancement in order to correct unilateral or bilateral lambdoid synostosis. The process involves striped transversal osteotomy, removal, remodelling and advancement of the occipital region. It allows precise, reproducible and predictable positioning of the segments. Artificial sutures are created as a result of the osteotomy. The remodelling leads to a well-proportioned skull shape and advancement to an increase in the intracranial volume. This article presents the operative method and the results of 14 patients.
Premature craniosynostosis is caused by a premature closure of single or multiple sutures of the cranial vault. It may result not only in aesthetic but also in functional disorders with an occasional ICP increase leading to a dramatic loss of vision. In the 1970s,Paul Tessier published his craniofacial principles for the primary treatment of craniosynostosis. His approach has gained wide acceptance over the previously described craniectomies and bone flaps, especially because of the significant benefits with an acceptably low level of morbidity. The following paper reviews the different kinds of craniosynostoses, their specific clinical manifestations, the necessary diagnostic examinations and the specific surgical procedures and operative results.
The genetic studies of syndromic craniosynostoses lead to the characterisation of genes that regulate the correct development of the bones of the skull. From these studies, it appears that FGF/FGFR signalling has a crucial role in this problem. Numerous mutations affecting the genes coding for FGFR1, 2 or 3 are responsible for these syndromes. It is interesting to note that some identical mutations produced various different phenotypes, suggesting that other genes modulate the phenotypic expressivity. The other involved genes in these syndromes code for such proteins as Msx2 or Twist that interact in the cellular pathways responsible for FGF action. From these genetic studies, it is now important to establish the role of these proteins during the development of the skull. Msx2 plays a repressive role in osteogenesis, whereas FGFRs act as promoting proteins. In the near future, it will be very important to improve our understanding of these phenomena in order to test specific treatments to prevent the development of such syndromes.
In the history of surgery, every single step forward in the development of complex surgical techniques has been sustained by the acquisition of more reliable and effective methods for controlling hemostasis. For many years, in fact, uncontrolled hemorrhages, together with infections, represented the most deadly hazard of surgical procedures. In the last century, technical advances in surgical hardware and homologous blood transfusions have been utilized to counteract operative and postoperative anemia and hypovolemia. At the end of this millennium, however, new revelations about the infective and noninfective risks of allogeneic blood transfusions have led to a new acceleration in patients' and physicians' demands for autologous transfusions and more efficient blood conservation techniques. Specific surgical protocols, based on the preoperative administration of r-HuEPO, preoperative autologous blood donation, acute preoperative normovolemic hemodilution and intraoperative blood salvage techniques, have been designed by pediatric neurosurgeons to minimize the exposure of patients affected by craniosynostoses to allogeneic blood and blood components even when the surgical procedure is to be realized at an early age. In spite of the evolution expected in this area in the immediate future, the implementation of these blood concentration methodologies may prove to be highly effective only when associated with a concerned attitude of the surgeon toward blood-sparing intraoperative strategies.
In ten patients with craniosynostoses resorbable plates and screws (Lactosorb) consisting of poly-L-lactic acid (82%) and poly-glycolic acid (18%) were used to stabilize the segments after frontoorbital advancement. As our experience increased, an exact adaptation of the plates and simple handling proved to be possible. The plates were stable enough to retain a favorable functional and aesthetic result after redraping the soft tissue envelope. In one patient with Chotzen's syndrome the intended use of the resorbable material was abandoned: the thin osseous structures did not offer enough primary stability to the high pitch of the screws. During an observation period of up to 21 months no infection, exposure, instability or dislocation was observed. The clinical use of the resorbable material in frontoorbital advancement proved to be a stable method of segment fixation if the bone was of sufficient thickness. These promising preliminary results will have to observed in a larger group and over a longer period of time.
BACKGROUND: The results of using resorbable plates and screws (82% polylactic acid and 18% polyglycolic acid) in craniofacial surgery for the correction of craniosynostosis after more than 4 years of experience are presented. Special attention is focussed on the degree of stability and the clinical tissue response to the material employed to answer the question of whether the material is an adequate alternative to titanium. METHODS: Thirty patients who had been treated with this method for craniosynostoses were examined at regular intervals regarding the shape and stability of the forehead region, visibility and palpability of the plates, and tissue reactions. RESULTS: The technical handling of the osteosynthesis material proved to be simple and reliable. In one case the bone was not strong enough for the screw pitch. After an observation period of a maximum of 4 years and 1 month, the fixations were stable with no signs of adverse reactions. DISCUSSION: If the long-term results remain favorable, we consider the use of resorbable material a promising method for the stabilization of segments in craniofacial surgery in children.
The timing of surgery for craniosynostosis is still controversial. Having used the same basic techniques since 1973, and having done follow-up on the growth of our 983 operated patients, we thought it useful to report our protocol. Early frontocranial remodelling is performed between 2 and 4 months for brachycephalies, but the other craniosynostoses are operated on between 6 and 12 months of age. When diagnosis is made later, we perform the same operations until 4 years of age, with some modifications, such as a tongue in groove advancement for brachycephalies, and a complete closure of the bony defects after 2 years of age. Later on, facial distortion and frontal sinus development complicate the surgery. For syndromal craniofacial synostosis, we prefer to perform a two-step operation: forehead advancement first, facial advancement later, to avoid the risk of frontal osteitis. The frontofacial monobloc is indicated, in our opinion, for severe exorbitism in infancy but otherwise we prefer a two-stage procedure. Facial bipartition is necessary to narrow the upper face and widen the maxilla in Apert's syndrome.
Syndromic craniosynostoses are commonly treated conditions in craniofacial units. The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include craniosynostosis, mid-face hypoplasia and ocular proptosis. The craniofacial management of a child with these syndromes through to adulthood may require a number of surgical interventions to allow brain development, to provide an adequate airway, to prevent corneal ulceration and to provide a functional dental occlusion. The management of these different priorities into timed interventions in our unit is determined by established protocols. We report two cases that underwent simultaneous mid-face (Le Fort III) and fronto-orbital osteotomies followed by distraction but using different vectors to advance the upper and mid-face regions (to achieve all treatment goals) in a 12-year-old boy and a 16-year-old girl.
BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry mutations in the TWIST and fibroblast growth factor receptor (FGFR) 3 genes, respectively. We sought to assess possible ocular phenotypic differences in patients with mutations of either gene previously grouped according to phenotype only. METHODS: A retrospective chart review was performed for 21 children with known mutations of the TWIST (n=10) or the FGFR3 (n=11) genes. Data gathered included patient sex, age, family craniofacial history, craniofacial and ophthalmic surgeries, type of strabismus, ptosis, cycloplegic refraction, visual acuity, the presence of amblyopia, nasolacrimal duct obstruction (NLDO), nystagmus, hypertelorism, epicanthal fold anomalies, and any ocular structural abnormalities. RESULTS: In the TWIST group, ptosis was present in 90%, amblyopia in 70%, horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%. In the FGFR3 group, ptosis was present in 36%, amblyopia in 18%, horizontal strabismus in 55%, vertical strabismus in 36%, NLDO in 0%, astigmatism in 9%, IOOA in 45%, hyperopia in 27%, myopia in 18%, nystagmus in 18%, and optic nerve findings in 27%. CONCLUSIONS: Patients with TWIST gene mutations may have more ophthalmic abnormalities, including more strabismus, ptosis, NLDO, astigmatism, vertical deviations, and amblyopia compared with patients with FGFR3 gene mutations.
OBJECTIVE: The goals of surgery in craniosynostosis are to reduce increased intracranial pressure and to achieve a good aesthetic result with minimal mortality and morbidity. A new type of strip craniectomy according to these principles is presented. PATIENTS: The technique was applied to seven cases of oxycephaly and three cases of scaphocephaly under 5 years of age. None of them had major cranial base involvement, facial deformity or marked psychomotor retardation. There was no syndromic case of craniosynostosis included in this group. METHODS: A curvilinear parasagittal craniectomy was combined with coronal and lambdoid craniectomies bilaterally. These craniectomies were curved postero- and antero-inferiorly, respectively, in order to create bilateral 'peninsula-shaped' parieto-temporal bones with their neck still attached to the temporal bone. A linear craniectomy, crossing the superior sagittal sinus and combining right and left curvilinear craniectomies was added. RESULTS: The operative time varied between 45 min and 1h, without any complications. Correction of the skull shape was successful in all cases. CONCLUSION: This technique is simple and effective. But, it is only applicable to a minority of craniosynostoses. Patient selection is the key to better results.
This article focuses on the management of perioperative complications in surgery dealing with structures of the craniofacial complex. A brief review of applicable surgical techniques is given, beginning with single-suture craniosynostoses and moving on to the more complex syndromic craniofacial disorders. Distinctive complications associated with each technique are discussed.
During skull development, the cranial connective tissue framework undergoes intramembranous ossification to form skull bones (calvaria). As the calvarial bones advance to envelop the brain, fibrous sutures form between the calvarial plates. Expansion of the brain is coupled with calvarial growth through a series of tissue interactions within the cranial suture complex. Craniosynostosis, or premature cranial suture fusion, results in an abnormal skull shape, blindness and mental retardation. Recent studies have demonstrated that gain-of-function mutations in fibroblast growth factor receptors (fgfr) are associated with syndromic forms of craniosynostosis. Noggin, an antagonist of bone morphogenetic proteins (BMPs), is required for embryonic neural tube, somites and skeleton patterning. Here we show that noggin is expressed postnatally in the suture mesenchyme of patent, but not fusing, cranial sutures, and that noggin expression is suppressed by FGF2 and syndromic fgfr signalling. Since noggin misexpression prevents cranial suture fusion in vitro and in vivo, we suggest that syndromic fgfr-mediated craniosynostoses may be the result of inappropriate downregulation of noggin expression.
BACKGROUND: Difficult intubation occurred during anaesthesia for removal of maxillary distraction devices in five of seven children with syndromal craniosynostoses (four with Apert, two with Pfeiffer and one with Crouzon syndrome). METHODS: Intubation was assessed in terms of laryngeal view and an established intubation difficulty score and had been straightforward before device insertion. Difficulty was induced by trismus due to device insertion and by increased maxillary prominence. This was compounded by preexisting mandibular hypoplasia. Cephalometric analysis, with each child acting as their own control, demonstrated anterior displacement of the maxilla and increased maxillary vertical height, as well as increased protuberance of the maxillary incisors. RESULTS: All five difficult tracheal intubations were associated with preoperative Mallampati scores of 3 or 4 and the nine straightforward intubations with scores of 1 or 2. Maximal interincisor distance was less than the lower 95% confidence limit for age in all five children who were difficult to intubate at the time of device removal. No child had a failed intubation, but all had significantly increased intubation difficulty. CONCLUSIONS: In view of the risks of trauma, hypoxia and aspiration associated with difficult direct laryngoscopy, we recommend elective fibreoptic intubation at anaesthesia for removal of maxillary distraction osteogenesis devices in these children.