Surgical Management of Hypertelorism: The 3D Animated Technical Note.

The hypertelorism surgery is a complex procedure requiring a long learning curve. Even though the box osteotomy technique is well described in literature, its representation is generally based on texts and illustrations that do not really give a 3-dimensional or a dynamic point of views. The authors present a 3-dimensional animated video, Supplemental Digital Content 1, http://links.lww.com/SCS/E561 showing the craniofacial osteotomies and focusing on the critical points to correct hypertelorism.

Computer-Assisted Frontofacial Monobloc Advancement and Facial Bipartition for Pfeiffer Syndrome: Surgical Technique.

BACKGROUND: In patients with Pfeiffer syndrome, several corrections are required to correct facial retrusion, maxillary deficiency, or even hypertelorism. The frontofacial monobloc advancement (FFMA) and the facial bipartition (FB) are the gold standard surgeries. We present the correction of this deformity using a simultaneous computer-assisted FFMA and FB. METHODS: The 3-dimensional surgical planning defined the virtual correction and bone-cutting guide in view of the FFMA and FB. Coronal and intraoral approaches were combined to perform the osteotomies. Four internal distractors were also placed for the postoperative distraction osteogenesis. RESULTS: We reported 2 cases of computer-assisted surgery with satisfying outcomes. The sagittal deficiency (fronto-facial retrusion) was corrected by FFMA and the transversal abnormality (i.e., hypertelorism and maxillary deficiency) by the FB, then followed by an internal distraction osteogenesis. CONCLUSIONS: Computer-assisted surgery is helpful and a reliable option for the management of complex faciocraniosynostosis such as hypertelorism and frontofacial retrusion.

How Accurate Is Computer-Assisted Orbital Hypertelorism Surgery? Comparison of the Three-Dimensional Surgical Planning with the Postoperative Outcomes.

Importance: Surgery of orbital hypertelorism (ORH) remains an imprecise surgical procedure depending on the experience and habits of the craniofacial surgical teams. Computer-assisted surgery (CAS) has developed dramatically in craniofacial surgery, but there is no current study assessing its accuracy for ORH surgery. Objective: This study aimed to assess the input of CAS and especially the accuracy of the cutting guide-based procedures. The authors presented the computer-assisted box osteotomy or facial bipartition techniques and compared the preoperative surgical planning with the postoperative results. Design, Setting, and Participants: A monocentric retrospective study included the patients who underwent surgical correction of ORH from 2016 to 2019 at the University Hospital Center of Tours, France. All the patients had a computer-assisted orbital hypertelorism surgery (CAOHS) using cutting guides and tailored fixation plates. Of 10 patients included, 7 were treated by box osteotomies and 3 by facial bipartitions. Intervention: Each patient had a preoperative computed tomography (CT) scan enabling a virtual simulation of the reconstruction and the manufacturing of patient-specific cutting guides and customized osteosynthesis plates. The postoperative CT scans were compared with the three-dimensional (3D) virtual simulation using the distances between the sagittal plane and orbital and infraorbital reference points, and from the measurement of the orbital advancement (i.e., 10 reference measurements). Results: All patients had satisfactory clinical and aesthetical outcomes with a mean interorbital distance of 22.8 ± 2.8 mm. The postoperative measurements were significantly higher than for the surgical planning (p < 0.0001). The average absolute differences between the 3D virtual planning and the postoperative CT scans were <1.30, 1.90, and 0.80 mm for the orbital, infraorbital, and orbital advancement measurements, respectively. The overall accuracy of the CAOHS (root mean square deviation) was 1.39 mm. Conclusions: The use of computer-assisted design and computer-aided manufacturing device, such as cutting guides and tailored plates, facilitates the bony surgical correction of ORH using box osteotomy or facial bipartition and allows for valuable, reproducible, and satisfactory clinical outcomes.

Posterior fossa tumors in children: Radiological tips & tricks in the age of genomic tumor classification and advance MR technology.

Imaging plays a major role in the comprehensive assessment of posterior fossa tumor in children (PFTC). The objective is to propose a global method relying on the combined analysis of radiological, clinical and epidemiological criteria, (taking into account the child's age and the topography of the lesion) in order to improve our histological approach in imaging, helping the management and approach for surgeons in providing information to the patients' parents. Infratentorial tumors are the most frequent in children, representing mainly medulloblastoma, pilocytic astrocytoma and brainstem glioma. Pre-surgical identification of the tumor type and its aggressiveness could be improved by the combined analysis of key imaging features with epidemiologic data.

Is It Safe To Use Frontofacial Monobloc Advancement and Cutting Guides on Adult Patients with Crouzon Syndrome? Introducing 2 Cases on 41- and 56-Year-Old Patients.

BACKGROUND: Patients with Crouzon syndrome are mainly treated in childhood by frontofacial monobloc advancement to avoid ophthalmic, neurologic, and maxillary complications. There is no reported case of surgery on adult patients with Crouzon syndrome in the literature. However, when faced with 2 cases of adult patients showing severe quality of life deterioration, our team decided to make an attempt using monobloc advancement technique. CASE DESCRIPTION: Two women aged 41 and 56 presented with untreated Crouzon syndrome and suffered from exorbitism, intracranial hypertension with chronic headaches, and hypoplastic maxillary. We decided to perform frontofacial monobloc advancement with internal distraction despite their advanced age using planned surgery and cutting guides. Distraction began 7-10 days after surgery and was of 15 mm. Distractors were taken off at 6 months. Surgical treatment corrected chronic headaches, ocular symptoms due to exorbitism, and hypoplastic maxillary. Patients were satisfied with the functional and aesthetic results. We noticed that this heavy surgery was more difficult to bear by these adults than children. CONCLUSIONS: Adults with craniofacial malformations have a lower self-esteem, lower quality of life, and less satisfaction with their facial look as compared with individuals without facial malformations. There is also an increased risk of psychosocial problems. Despite postoperative difficulties and minor complications, our 2 patients were satisfied with the functional and aesthetic results. This led to the conclusion that surgically addressing adult patients with Crouzon syndrome via monobloc advancement is appropriate and secure when performed by a trained team.

Use of cutting guides during craniosynostosis sequelae surgery: A comparative study between computer-assisted planning and post-operative results.

BACKGROUND: The authors compared results of craniofacial reconstruction surgery using cutting guides with planned reconstruction on patients presenting craniosynostosis surgery sequelae. METHODS: This is a retrospective study performed on seven patients who had undergone craniofacial reconstructive surgery in University Hospital Center of Tours (France) in 2015. Patients had long-term sequelae of trigonocephaly and anterior plagiocephaly surgery. 3D computer model was constructed, based on CT scans and used for surgical planning. Cutting guides were realized to use patient autologous bone. Post-operative 3D cranioplasty was superimposed to the 3D pre-operative to determine the minimal distance between each point of the post-operative flap and its pre-operative point corresponding. RESULTS: Mean of minimal distances calculated per patient ranged from 0.89 mm to 1.85 mm. The best result for percentage of points having the minimal distance inferior to 1.8 mm was 98.2 percent; the worst result was 55 percent. This value ranged from 77.5 to 98.2 percent for trigonocephaly cases. This value ranged from 55 to 77.5 percent for plagiocephaly cases. No significant difference was found between pre and post-operative areas and volumes of each flap, p = 0.12 and p = 0.19 respectively. CONCLUSION: Using cutting guides facilitates complex craniofacia reconstructions with patient autologous bone and obtains precise and reproducible results.

Long-Term Assessment of Suturectomy in Trigonocephaly and Anterior Plagiocephaly.

INTRODUCTION: Techniques for treating trigonocephaly and anterior plagiocephaly have evolved from the initial suturectomy technique to frontal cranioplasty. The authors evaluated the suturectomy technique in adolescent patients with these craniosynostoses, by carrying out a retrospective, long-term assessment at the end of growth. METHODS: Patients with anterior plagiocephaly or trigonocephaly were included. All had undergone coronal or metopic suturectomy with bilateral orbitofrontal bandeau resection between 1997 and 2005. The primary endpoint was the Whitaker classification. The secondary endpoints were anthropometric measurement, assessments of the bone defects on computed tomography scan, and the comments of patients and their relatives concerning the final skull outcome. Patients with anterior plagiocephaly also attended an ophthalmological consultation. RESULTS: Seventeen patients were included in the study: 8 with anterior plagiocephaly and 9 with trigonocephaly. Mean age at the time of surgery was 6.91 months. Mean age at the time of craniofacial consultation was 14 years. Fourteen patients (82%) were classified as Whitaker Class III and IV, corresponding to poor esthetic results and persistent bone defects. Seven patients requested further surgery. CONCLUSION: This study shows that suturectomy seems to yield poor esthetic results in the long term and patients should be followed up throughout adolescence to correct any craniofacial deformities.

Frontofacial Monobloc Advancement With Simultaneous Frontal Cranioplasty in Adolescents With Residual Apert Syndrome Deformations.

INTRODUCTION: The treatment of faciocraniosynostosis has steadily evolved since the introduction of craniofacial surgery in the 1950s. The aim of this study is to demonstrate the positive results obtained by frontofacial monobloc advancement with simultaneous frontal cranioplasty in adolescents with adult facial bones and residual Apert syndrome deformations. MATERIALS AND METHODS: Three adolescents underwent surgery between September 1, 2010 and March 31, 2011. All had faciocraniosynostosis in the context of Apert syndrome and had undergone brain decompression surgery during the first year of life. However, they presented intracranial hypertension. The authors carried out frontofacial monobloc advancement with internal distraction and frontal cranioplasty. RESULTS: The mean frontal advancement was 13.8 mm. The mean maxillary advancement was 16.3 mm. About exorbitism, 2 patients had grade III and 1 had grade I before surgery. After monobloc advancement, 2 patients had no exorbitism and 1 had grade I. About dental occlusion, 3 patients had class III before surgery and were overcorrected in class II after advancement. DISCUSSION: Frontofacial monobloc advancement yields satisfactory functional and esthetic results in these cases. In conclusion, simultaneous frontofacial monobloc advancement and cranioplasty appears to be a promising technique for the treatment of adolescents with residual craniofacial deformations.

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape.

Orbitofrontal monobloc advancement for Crouzon syndrome.

INTRODUCTION: Usually, patients suffering from Crouzon syndrome have synostosis of coronal sutures, exophthalmia, hypertelorism, and hypoplasia of the middle third of face. Sometimes maxillary retrusion is absent, so these patients have class I or II relationship. In these cases, frontofacial monobloc advancement, which is the gold standard, increases the maxillo-mandibular dysmorphia. Therefore we propose orbitofrontal monobloc advancement minus dental arch, without splits of the pterygoid plates. CASE REPORT: A 12-year-old girl with Crouzon syndrome had intracranial hypertension, exophthalmia, a middle third retrusion and a class II occlusion. We achieved orbitofrontal monobloc advancement which is frontofacial monobloc advancement minus maxillary dental arch. Four distractors KLS Martin were used. After 20 days of distraction, the final advancement was 10.2 mm for cranial distractors and 10.5 mm at fronto-zygomatic. Distractors were removed after 8 months. DISCUSSION: We offer patients suffering from Crouzon syndrome with class I or II relationship a change from the classic frontofacial monobloc advancement leaving the maxillary dental arch in place, thus avoiding the worsening of the maxillo-mandibular dysmorphia related to surgery. The idea of associating Le Fort I osteotomy with a frontofacial monobloc advancement or Le Fort III osteotomy has already been described, mainly by Tessier and Obwegeser, however they probably achieved a complete Le Fort I osteotomy while we don't split the pterygoid plates. The patient's morphology and his surgical history determine the choice between Le Fort III and monobloc advancement. Dental occlusion needs to be taken into account for surgical indication.

Papillary tumor of the pineal region in a child: case report and review of the literature.

CASE REPORT: A 13-year-old boy presented with a history of intracranial hypertension. Radiologic studies revealed triventricular hydrocephalus secondary to a space-occupying lesion in the pineal region. Endoscopic third ventriculostomy was performed to treat hydrocephalus, and the lesion was biopsied. Complete resection of the tumor was subsequently performed. After a period of uncertainty, the diagnosis of papillary tumor of the pineal region was established. Tumor bed radiotherapy at a dose of 50 Gy was associated. With a follow-up of 15 months, the postoperative course was satisfactory with return to school and no residual tumor on magnetic resonance imaging. CONCLUSION: Papillary tumors of the pineal region constitute a rare entity, with a difficult diagnosis, an uncertain prognosis, and a high risk of local recurrence; they must be treated by a combination of surgery and radiotherapy. The only identified prognostic factor is the complete or incomplete nature of surgical resection.

Cbl-mediated ubiquitination of alpha5 integrin subunit mediates fibronectin-dependent osteoblast detachment and apoptosis induced by FGFR2 activation.

Fibroblast growth factor receptor signaling is an important mechanism regulating osteoblast function. To gain an insight into the regulatory role of FGF receptor-2 (FGFR2) signaling in osteoblasts, we investigated integrin-mediated attachment and cell survival in human calvarial osteoblasts expressing activated FGFR2. FGFR2 activation reduced osteoblast attachment on fibronectin. This was associated with reduced expression of the alpha5 integrin subunit normally expressed in human calvarial osteoblasts in vivo. Treatment with lactacystin, a potent inhibitor of proteasome, restored alpha5 integrin levels in FGFR2 mutant osteoblasts. Immunoprecipitation analysis showed that alpha5 integrin interacts with both the E3 ubiquitin ligase Cbl and ubiquitin. Immunocytochemistry revealed that alpha5 integrin colocalizes with FGFR2 and Cbl at the leading edge in membrane ruffle regions. Transfection with the 70Z-Cbl mutant lacking the RING domain required for Cbl-ubiquitin interaction, or with the G306E Cbl mutant that abolishes the binding ability of Cbl phosphotyrosine-binding domain restored alpha5 integrin levels. This suggests that Cbl-mediated ubiquitination plays an essential role in alpha5 integrin proteasome degradation induced by FGFR2 activation. Reduced alpha5 integrin expression was associated with an increased Bax/Bcl-2 ratio and increased caspase-9 and -3 activities in FGFR2 mutant osteoblasts. Forced expression of alpha5 integrin rescued cell attachment and corrected both the Bax/Bcl-2 ratio and caspase-3 and caspase-9 activities in FGFR2 mutant osteoblasts. We show that Cbl recruitment induced by FGFR2 activation triggers alpha5 integrin degradation by the proteasome, which results in reduced osteoblast attachment on fibronectin and caspase-dependent apoptosis. This identifies a functional role of the alpha5 integrin subunit in the induction of apoptosis triggered by FGFR2 activation in osteoblasts, and reveals that a Cbl-dependent mechanism is involved in the coordinated regulation of cell apoptosis induced by alpha5 integrin degradation.