1/24. Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis.A number of craniosynostotic disorders have recently been ascribed to mutations in genes coding for the fibroblast growth factor receptors(FGFRs). The common feature of these FGFR-associated conditions is the unilateral or bilateral premature ossification of the coronal suture. One distinct craniosynostotic condition is trigonocephaly, which results from the premature fusion of the metopic suture. Trigonocephaly mostly occurs as isolated cranial defect; however, the premature closure of the metopic suture may represent a feature of more complex craniosynostotic conditions in which a progressive involvement of other cranial sutures with age is observed. The possible involvement of mutated FGFRs in trigonocephaly was investigated in nine newborns affected by isolated premature synostosis of the metopic suture. All except one of these cases carried no mutations in the FGFR1-3 domains indicated as hot spots for craniosynostosis-associated mutations. A T(978)C transition in the FGFR2 exon IIIa was found in a patient who had a phenotype that apparently fitted the trigonocephalic condition at birth, but showed additional facial anomalies, which worsened progressively with age towards a Crouzon-like profile. The present finding points out the importance, from both diagnostic and prognostic points of view, of early FGFR mutational screening in craniosynostotic conditions, even in forms that apparently do not involve closure of the coronal suture at birth.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/24. Obstructive sleep apnea in a growing patient.sleep apnea syndrome (SAS) is a complex respiratory disorder that is very difficult to diagnose and to treat surgically as well as medically. SAS can affect growing patients as well as adults. SAS shows a central, an obstructive, and a mixed form. diagnosis is based on clinical examination of the patient and instrumental examinations such as teleradiography, nuclear magnetic resonance imaging (NMR), three-dimensional computed tomography, polysomnography, rhinomanometry, and spirometry. The patient presented has an obstructive form of SAS in addition to Crouzon's disease. He underwent a Le Fort III osteotomy to obtain an advancement of the orbitomaxillary complex, allowing an increase in volume of posterior airway space at the level of the hypopharynx.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
3/24. Traumatic cranial injury sustained from a fall on the rigid external distraction device.Distraction osteogenesis has become a popular treatment of congenital maxillocraniofacial anomalies. Many ingenious internal and external devices have been developed and used. The rigid external distraction system based on systems previously used in correction of maxillary retrusion offers postoperative adjustment in two dimensions. Figueroa and Polley reported the use of this device with minimal morbidity in children as young as 5 years of age. They reported no problems with infection, bleeding, pain, loosening of the intraoral splint, dental injury, or wear problems in a series of 14 consecutive cleft patients. Recent modification of the system, rigid external distraction II, has allowed it to be applied to more complex craniofacial deformities that require a LeFort III osteotomy. A review of the neurosurgery and orthopedic literature revealed that halo complications relate primarily to the skull pins. In most cases, these complications can be prevented if the device is carefully applied and monitored. Early recognition and prompt treatment of complications are important. After experience with this system for advancement at the LeFort III level, six patients with various syndromes involving the craniofacial skeleton have undergone LeFort III level distraction osteogenesis with the rigid external distraction device in combination with a planned and stabilized frontosupraorbital advancement. In one of these cases, a 7-year-old child fell on the device after discharge from the hospital and sustained a compound depressed skull fracture that required debridement and repair.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
4/24. Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions.Distraction osteogenesis has been used increasingly for midfacial advancement in patients with syndromic craniosynostosis and in severe developmental hypoplasia of the midface. In these patients, the degree of advancement required is often so great that restriction of the adjacent soft tissues may preclude stable advancement in one stage. Whereas distraction is an ideal solution by which to gradually lengthen both the bones and the soft tissues, potential problems remain in translating the distraction forces to the midface. In these patients, severe developmental hypoplasia may be associated with weak union between the zygoma and the maxilla, increasing the chance of zygomaticomaxillary dysjunction when using internal devices that translate distraction force to the maxilla through the zygoma. Eight cases are reported in which either internal or external distraction systems were used for midface advancement following Le Fort III (n = 7) or monobloc (n = 1) osteotomies. Cases of patients in whom hypoplasia at the zygomaticomaxillary junction altered or impaired plans for midface distraction were reported from three host institutions. Seven patients had midface hypoplasia associated with syndromic craniosynostosis, and one patient had severe developmental midface hypoplasia. The distraction protocol was modified to successfully complete midface advancement in light of weakness at the zygomaticomaxillary junction in seven patients. Modifications included change from an internal to an external distraction system in two patients, rigid fixation and bone graft stabilization of the midface in one patient, and plate stabilization of a fractured or unstable zygomaticomaxillary junction followed by resumption of internal distraction in four patients. Previous infection and bone loss involving both malar complexes precluded one patient from being a candidate for an internal distraction system. Using a problem-based approach, successful advancement of the midface ranging from 9 to 26 mm at the occlusal level as measured by preoperative and postoperative cephalograms was undergone by all patients. Advantages and disadvantages of the respective distraction systems are reviewed to better understand unique patient characteristics leading to the successful use of these devices for correction of severe midface hypoplasia.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/24. Computer-aided procedures in implantology, distraction and cranio-maxillofacial surgery.Smaller implants and less invasive techniques for osteotomies using an endoscope assisted approach may facilitate the surgical procedures in cranio-maxillofacial distraction osteogenesis. Although sophisticated distraction devices are routinely used, there are still certain problems which need to be addressed. The preoperative planning, even of complex cases can be facilitated by using modern imaging techniques such as computer assisted surgery (CAS). The placement of the devices and the outline of complex osteotomies can be controlled intra-operatively. CAS allows for postoperative monitoring and for the long term follow up. The vector of distraction can be monitored and, depending on the device, a change of the vector of distraction may be possible during the activation period.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
6/24. Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
7/24. Stereolithography for craniofacial surgery.Advances in computer technology have aided in the diagnostic and clinical management of complex congenital craniofacial deformities. The use of stereolithographic models has begun to replace traditional milled models in the treatment of craniofacial deformities. research has shown that stereolithography models are highly accurate and provide added information in treatment planning for the correction of craniofacial deformities. These include the added visualization of the complex craniofacial anatomy and preoperative surgical planning with a highly accurate three-dimensional model. While the stereolithographic process has had a beneficial impact on the field of craniofacial surgery, the added cost of the procedure continues to be a hindrance to its widespread acceptance in clinical practice. With improved technology and accessibility the utilization of stereolithography in craniofacial surgery is expected to increase. This review will highlight the development and current usage of stereolithography in craniofacial surgery and provide illustration of it use.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
8/24. Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up.Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more complex pathogenesis.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/24. Asymmetrical cranio-orbital facial stenosis.Cranio-orbital facial scoliosis is the result of unilateral premature stenosis of the craniofacial skeleton. plagiocephaly is only a subform of the syndrome. The deformity progresses unless operative treatment is given. Operative treatment is indicated for functional, aesthetic, and psychosocial reasons. We advocate early operation in infancy (3 to 6 months) consisting of wide resection of the stenosed sutures of the cranium and orbit, repositioning, and remodeling relying on the spontaneous autodynamic reshaping of the nasoethmoidal complex and the midface structures during the course of further growth. In adolescents and adults, multisegmental osteotomies and remodeling into a definitive position are necessary.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/24. Expanding the phenotype of the proteus syndrome: a severely affected patient with new findings.Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the proteus syndrome. In addition, he also had abnormalities previously unreported in the proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the proteus syndrome and expands the already broad range of the phenotype.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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