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Background and Purpose: Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA., Materials and Methods: This retrospective study examined all subjects with funduscopically confirmed MGDA diagnosed and imaged with brain MR imaging between 2008 and 2023., Results: Thirty-two children met inclusion criteria. Ocular involvement was unilateral in 29 subjects and bilateral in 3. Segmental optic nerve enlargement ipsilateral to the MGDA was seen in 21 subjects, with 3 also demonstrating a segmental reduction in the size of the ipsilateral optic nerve. Segmental reduction in the size of the ipsilateral optic nerve was present in 3 additional subjects, one with bilateral MGDA. The optic chiasm appeared asymmetrically thickened in 21 subjects, often with deformity. The optic nerves appeared normal in signal intensity in all subjects, with faint peripheral chiasmatic enhancement in 4 of 20 patients who received contrast. Optic nerve findings were stable in 15 subjects with multiple examinations. A persistent craniopharyngeal canal was identified in 17 subjects with sphenoid cephalocele in 1 and mild inferior pituitary gland displacement in 4. Tubular or nodular nasopharyngeal lesions were seen in 10 subjects. One subject had an off-midline sphenoid bone cleft, midbrain deformity, and abnormal thickening of and enhancement around the left oculomotor nerve; the oculomotor nerve finding was present in 1 additional patient., Conclusions: MGDA often manifests with ipsilateral optic nerve thickening, leading to a potential misdiagnosis as optic glioma. MGDA is also commonly associated with a persistent craniopharyngeal canal with variable pituitary gland and infundibular deformity, cephalocele, and tubular or nodular nasopharyngeal lesions., (© 2024 by American Journal of Neuroradiology.)

Introduction: Benign lesions of the skull base are common in the paediatric population, and are usually congenital in aetiology. Majority of these lesions are treated transcranially exposing the patients to a number of risks. Although endoscopic endonasal surgery (EES) helps avoid many of these potential morbidities, CSF leak with its attendant complication remains a big concern. This study reports the use of the Hadad flap in the reconstruction of skull base defects in infants to prevent this problem. The study was conducted on four infants with a mean age of 7 months, who underwent repairs for CSF leaks associated with congenital lesions like meningocele or meningoencephalocele, using the Hadad flap. Of the four patients, three cases were revision cases and one was primary where the patients presented with complaints such as nasal obstruction and watery nasal discharge. Post surgery, the infants were monitored for a mean period of 23 months and no major complications or recurrent CSF drainage were observed. Minor complications that were observed include vestibulitis and crusting in the nose. The utility of the Hadad flap in the reconstruction of skull base defects in the paediatric age group has been controversial while its utility in infants has not been studied in literature so far. We report here in our series four infant patients in whom we believe that the nasal septum and the skull base will develop proportionally to each other, hence lowering the chances of a short flap and eliminating the occurrence of future complications., Conclusion: The nasoseptal flap is an effective and safe technique for reconstructing skull base defects in infancy. It can be concluded that this technique does not have any potential effect on septal or craniofacial growth as the flap is harvested only on one side with normal mucosal cover on the other side. There is no posterior septectomy or any form of bony or cartilaginous resection that is performed, hence avoiding any effects on bony growth. No studies have been published in literature so far and to the best of our knowledge, this is the first report describing the efficacy of the nasoseptal flap in infants.

In the present study, we investigated the relationship between sphenoid sinus, carotid canal, and optic canal on paranasal sinus computed tomography (PNSCT). This study was performed retrospectively. PNSCT images of 300 adult subjects (159 male, 141 female). Sphenoid sinus (pneumatisation, dominancy, septation, inter-sinus septa deviation), anterior clinoid process pneumatisation, Onodi cell, carotid and optic canals (width, dehiscence, classification) were measured. In males, type 3 pneumatised sphenoid sinus (in both sides) and in females type 2 pneumatised sphenoid sinus (right side) and type 3 pneumatised sphenoid sinus (left side) were detected more. Anterior clinoid pneumatisation was present 47.2% in males and 39.7% in females. In male group, more septation (i.e. 22.6%, ≥ 3 septa) in sphenoid sinus were detected. Onodi cell was present 26.6 and 19.1% in males and females, respectively. Carotid canal protrudation to the sphenoid sinus wall was present 23.9-32.1% in males and 35.5-36.2% in females. Dehiscence in carotid canal was detected more in females (34%) compared to males (22%). Optic canal protrudation was 33.3 and 30.5% in males and females. Type 4 optic canal was detected more in both gender. Optic canal dehiscence was detected 11.3 and 9.9% in males and females. Carotid and optic canal diameters were higher in males. In pneumatised sphenoid sinuses and in females, type 3 carotid canal (Protrudation to SS wall) (bilaterally) and type 1 optic canal type (No indentation) (ipsilateral side) were detected more. In elderly patients, carotid and optic canal width increased. When carotid canal protrudation was detected, there was no indentation in optic canals In pneumatised SS, carotid canal protrudation was observed with a greater risk in surgery. However, type 1 (non indentation) optic canal was present in highly pneumatised SS with lower risk for the surgery. In women, the risk of carotid canal protruding (about 1/3) is greater than that of males, and carotid canal dehiscence rates are also higher in females. Therefore, physicians should be very careful during the preparatory stages of the sphenoid sinus surgery. Otherwise, it may not be possible to prevent lethal carotid artery bleeds.

A 10-year-old male with history of Beals syndrome presented with hearing loss and was found to have middle and inner ear dysplasia and left temporal encephalocele on imaging. Beals syndrome is a rare autosomal dominant connective tissue disorder caused by a mutation in the fibrillin-2 gene. Skeletal manifestations of Beals have been reported, including anomalies of the long bones, calvarium, and spine. External ear abnormalities with "crumpled ear" deformity are seen in the majority of patients. This is the first case to report imaging findings of the middle and inner ear in a patient with Beals., (Copyright © 2018. Published by Elsevier B.V.)

The sphenoidal tubercle (SphT), also known as pyramidal tubercle or infratemporal spine projects from the anterior end of the infratemporal crest of the greater sphenoidal wing. As it masquerades the lateral entrance in the pterygopalatine fossa it could obstruct surgical corridors or the access for anaesthetic punctures. The SphT is, however, an overlooked structure in the anatomical literature. During a routine cone beam computed tomography study in an adult male patient we found bilateral giant SphTs transforming the infratemporal surfaces of the greater wing into veritable pterygoid foveae. Moreover, on one side the SphT appeared bifid, with a main giant partition, of 9.17 mm vertical length, and a secondary laminar one. The opposite SphT had 14.80 mm. In our knowledge, such giant and bifid SphTs were not reported previously and are major obstacles if surgical access towards the pterygopalatine fossa and the skull base is intended.

Purpose: The current study investigated the incidence, morphology and morphometry of the ossified ligaments expanding between petrous bone and posterior clinoid processes and in between the anterior, middle and posterior clinoid processes. Side symmetry, gender dimorphism and age influence were also studied., Materials and Methods: A total of 123 adult Greek dry skulls were observed., Results: A caroticoclinoid bar (CCB) was found in 60.2%. Partial CCBs appeared more commonly (36.6%) than complete (23.6%). The caroticoclinoid foramen (CCF) was symmetrical on both sides and genders. An anterior interclinoid, a posterior petroclinoid and a partial posterior interclinoid bar appeared in 19.5%, 6.5% and 2.4%, respectively. Osseous spurs posterolateral to the posterior clinoid process were present in 5.7%., Conclusion: The study highlights important morphometric details about osseous bars of the sella region and the related CCF in Greek skulls. Notable differences in the incidence of these bars in Greek individuals compared with findings from other populations highlight the growing awareness of ethnic differences in skull base landmarks. Variations and surgically oriented measurements provided by this study may benefit clinicians involved in the treatment of the middle cranial fossa pathology, enriching understanding of the complicated regional anatomy. Preoperative sellar area mapping is essential, by using computed tomography images, since modification of the surgical approach may be required in cases of severe ossification., (Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone. To the best of the authors' knowledge, this is the first reported case of sphenoid wing aplasia secondary to congenital orbital myofibroma independent of neurofibromatosis 1.

Background: The Onodi cell (sphenoethmoidal air cell) is an anatomic variant of the most posterior ethmoid cell that pneumatised superiorly and laterally to the sphenoid sinus, and is in close relation to the optic nerve. The proper identification of the Onodi cell is essential during a pre-operative computer tomography (CT) examination, as the presence of that ethmoid cell variant makes sphenoid sinus surgery more risky. The bulging of the optic nerve to the ethmoid cell wall is well visualized during endoscopic examination, but there are no clearly defined criteria for a potentially dangerous Onodi cell type in CT examinations., Objective: To determine the prevalence and types of Onodi cell in CT examination and find the most suitable CT scanning planes to identify it., Material and Methods: Three plane (axial, coronal and sagittal) reconstructions of 196 paranasal sinuses were analyzed. The most posterior ethmoid cell was classified into four types, according to its position in relation to the sphenoid sinus and the optic nerve canal bulging into the lumen of the sphenoethmoid cell., Results: The Onodi cell was detected in 39.8% of cases, although in 55.6% of cases a direct contact between the most posterior ethmoid cell and the optic nerve was present. Bulging of the optic nerve canal was seen in 25% of cases. In two cases two posterior ethmoid cells were in direct contact with the optic nerve canal., Conclusion: The prevalence of the Onodi cell was higher than previously reported. Pre-operative paranasal sinuses CT examination should be evaluated in all three planes (axial, coronal and sagittal) to avoid missing or over-detection of the Onodi cell. Axial and sagittal planes are preferable for the detection of the Onodi cell., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Objective: To characterize the phenotypes of spheno-occipital synchondrosis (SOS) in Chinese patients with Crouzon syndrome., Methods: Twelve patients with Crouzon syndrome were included in this retrospective study, and were divided into 2 groups. The first group included 5 patients (5-7-year old), whereas 7 patients were included in the second group (8-11-year old). Two age- and sex-matched control groups were constituted for comparison. All patients and controls were underwent preoperative computed tomography examinations of the craniofacial area, and the three-dimensional skull models, sagittal, and axial images were reconstructed. The density of the SOS region was also calculated., Results: The SOS was partially closed in the first Crouzon patients group, whereas the SOS was open in control groups. The SOS was completely fused SOS in the second Crouzon patients group, whereas the SOS was open or partially closed in control groups. There also were short and hypoplastic sphenoid bone in both Crouzon groups when compared with controls. In addition, the average density of SOS in patients with Crouzon syndrome was higher than the control groups (P <0.01)., Conclusions: The SOS begins to prematurely fuse in Chinese patients with Crouzon syndrome, and there are short and hypoplastic sphenoid bone in these patients. Although a definitive role of prematurely fused SOS in Crouzon syndrome cannot be drawn, our finds provide important clues into the mechanisms, and potentially provide a treatment target for midfacial and cranial vault hypoplasia in Crouzon patients.

Background: Orbitotemporal neurofibromatosis is a challenging disease for orbital surgeons. Ptosis correction may be needed following correction of orbital dystopia., Case Presentation: A 34-year-old man, who underwent excision of a neurofibroma on the right eyelid in our clinic, returned to our clinic four years later complaining of dystopia and bulkiness of the protruding mass in the right eyelid and eyebrow. Computed tomographic imaging showed dysplasia and deformity in the sphenoid bone and orbit. A large mass was found in the superior portion of the orbit, protruding towards the temporal lobe, which in turn displaced the orbit downwards. A bicoronary incision and transcranial approach were performed, followed by the excision of the superior orbital space and temporal lobe mass by uncovering certain portions of the frontal, temporal, and zygomatic bones. After the excision of the mass, a calvarial bone graft was used to remodel the longitudinal widened orbit to correct the dystopia. While primary surgery was successful in the correction of dystopia, secondary surgery was performed to correct the exacerbated ptosis by levator muscle resection., Conclusions: Correction of orbitotemporal neurofibromatosis with dystopia involves three steps: removal of the mass in the orbit to eliminate the effect of downward dislocation of the orbit, placement of a bone graft in the orbit floor after repositioning the orbit for suspension and remodeling of the orbit, and following the correction of dystopia, ptosis may be corrected if needed.

Background: Several patients with ocular dystopia and craniofacial differences have been found to have orbital dysplasia and a frontal bone defect. This deformity is characteristically different from differential diagnoses of encephalocele, sphenoid dysplasia, craniofacial dysostoses, or atypical clefting., Methods: The authors retrospectively reviewed the craniofacial registries of two pediatric centers for patients presenting with ocular dystopia or orbitofrontal anomalies between 2000 and 2014. The features and treatment of these patients were analyzed., Results: Four patients with congenital orbitofrontal bone dysplasia were identified, three with unilateral and one with bilateral frontal bone defects. Clinical signs of hypoglobus and vertical ocular dystopia of an average of 5.0 mm on the affected side were noted shortly after birth. The transversely oriented bony defect had an average surface area of 3.9 cm in unilateral cases and 10.7 cm in bilateral cases. Patients showed a characteristic orbital vertical elongation with an average orbital height-to-width ratio of 1.30-in excess of the average normal 1.14 by 14 percent-and inferior rim displacement. Cranial contour demonstrated frontal bossing and borderline dolichocephaly. Fronto-orbital reconstruction was performed in three patients, using cranial bone grafting to obliterate the orbital roof defect and elevate the orbital floor, which was successful in reducing ocular dystopia and preserving vision in each patient. One patient followed for 11 years postoperatively has a durable result with no surgical revision., Conclusions: Orbitofrontal bone dysplasia has not been previously reported, and includes a frontal bone defect and ocular dystopia. Single-stage fronto-orbital reconstruction appears to adequately correct it., Clinical Question/level of Evidence: Therapeutic, IV.

Isolated unilateral frontosphenoidal synostosis is a rare and often misdiagnosed cause of synostotic frontal plagiocephaly. It is important to distinguish the various synostotic causes of frontal plagiocephaly from deformational frontal plagiocephaly because operative intervention is required in synostotic plagiocephaly to avoid progressive deformity, whereas deformational plagiocephaly typically improves without surgery. This study reports a patient with a unique case of anterior plagiocephaly caused by left-sided frontosphenoidal craniosynostosis. The workup should include a thorough history and clinical examination followed by computed tomography scan with three-dimensional reconstruction. Frontosphenoidal synostosis should be suspected in the absence of a coronal synostosis in a child with anterior unilateral plagiocephaly and treated surgically. Good aesthetic and functional results occur with prompt diagnosis and early surgical correction.

Gómez-López-Hernández syndrome (GLHS) is a clinical condition traditionally characterized by rhombencephalosynapsis (RS), parieto-occipital alopecia, and trigeminal anesthesia. It is a neurocutaneous disorder with no known etiology. The underlying cause of the trigeminal anesthesia in GLHS has not been examined or reported; it has merely been identified on clinical grounds. In this report, a 10-month-old white female born at 37 weeks gestational age with GLHS underwent a contrast-enhanced CT for the evaluation of craniofacial dysmorphic features. Thin-section bone algorithm images showed absence of bilateral foramina rotunda and trigeminal nerve fibers. The maxillary branch of the trigeminal nerve passes through the foramen rotundum and carries sensory information from the face. This case is unique because trigeminal nerve absence has not been suggested as a possible etiology for trigeminal anesthesia associated with GLHS. It is not known how many cases of GLHS have agenesis of the trigeminal nerve; however, a review of the literature suggests that this patient is the first. The triad of RS, alopecia, and trigeminal anesthesia is specific to GLHS; therefore, early identification of trigeminal nerve agenesis in patients with RS could expedite diagnosis of GLHS, particularly given that the clinical diagnosis of trigeminal anesthesia in neonates is a challenging one. Diagnosing alopecia in newborns is likewise challenging. Early diagnosis could allow for early intervention, especially for ophthalmic complications, which are known to have significant long-term effects. This case illustrates the benefits of CT imaging in the detection of trigeminal nerve and foramina rotunda abnormalities in neonates with suspected GLHS., (© 2014 Wiley Periodicals, Inc.)

Nonpositional anterior plagiocephaly results commonly from unilateral coronal craniosynostosis. We present 2 patients of a rare cause of anterior plagiocephaly known as frontosphenoid synostosis. This condition is characterized by the absence of a harlequin eye (or the harlequin sign on computed tomography), which is usually present in unilateral coronal synostosis. We also observed no reduction in the ear-eye distance, which can distinguish it from coronal craniosynostosis.

Context: SOX3 is an early developmental transcription factor involved in pituitary development. In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary., Patient: We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes. He developed GH and gonadotropin deficiency, whilst his thyroid function was in the low normal range. Magnetic resonance imaging revealed a eutopic posterior pituitary and the unusual finding of a persistent craniopharyngeal canal that has not previously been described in patients with congenital hypopituitarism., Objective and Methods: To establish whether loss of SOX3 can account for the human phenotype, we examined in detail the hypothalamo-pituitary region of neonatal Sox3 null mice., Results: Consistent with the patient's phenotype, Sox3 null mice exhibit a ventral extension of the anterior pituitary that penetrates, and generates a mass beneath, the sphenoid bone. This suggests that the defect results from abnormal induction of Rathke's pouch, leading to a persistent connection between Rathke's pouch and the oral ectoderm., Conclusions: Our observations expand the spectrum of phenotypes observed in association with altered SOX3 dosage and may affect the approach to genetic screening. Screening for SOX3 should be advised not only for hypopituitary patients with an ectopic posterior pituitary, but also for those with a structurally normal pituitary and additional findings, including clefts and a persistent craniopharyngeal canal, with or without mental retardation.

Purpose: Premature closure of the spheno-occipital synchondrosis (SOS) has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis. The present study aimed to characterize SOS fusion in patients with Crouzon syndrome., Patients and Methods: A case-control study was performed in patients with Crouzon syndrome treated at the Children's Hospital of Philadelphia from 1984 to 2012. The cases included patients with Crouzon syndrome and at least 1 high-quality computed tomography (CT) scan in which SOS patency could be assessed. Age- and gender-matched control CT scans were identified for comparison. The patient age at the CT scan was evaluated as the predictor, with SOS patency identified as the outcome variable. Three independent reviewers with high inter-rater reliability graded the SOS patency as open, partially fused, or completely fused. The Wilcoxon rank sum test was used to compare the Crouzon group and the controls., Results: During the study period, 30 patients were identified with Crouzon syndrome. A total of 24 patients, all with midface hypoplasia and with 112 cranial CT scans, met the inclusion criteria. Accordingly, 112 age- and gender-matched control CT scans were assessed. No patient in the control group had midface hypoplasia. Within the Crouzon group, the average age at complete closure (14.0 ± 3.4 years) evident on the CT scan was significantly younger than that in the control group (16.6 ± 2.2 years; P = .0152). The average age when the scans showed complete patency of the SOS in the Crouzon group (1.3 ± 1.1 years) was significantly younger than that in the control group (3.2 ± 2.3 years; P = .0001)., Conclusions: The SOS closes significantly earlier in patients with Crouzon syndrome compared with age- and gender-matched controls. The strong statistical correlation supports premature closure of the SOS as a possible mechanistic contributor to midface hypoplasia., (Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal anomalies and a novel PTCH1 germline mutation (c.1041delAA). Craniofacial and other skeletal anomalies displayed at 3D and helical CT scan were: macrocephaly, positional plagiocephaly, skull base and sphenoid asymmetry, bifidity of multiple ribs and giant multilocular odontogenic jaw cysts. Extensive multilamellar calcifications were found in falx cerebri, tentorium, falx cerebelli and in the atlanto-occipital ligament. The inclusion of bifid ribs as a novel major criteri may be useful for the recognition and characterization of misdiagnosed cases.

Summary: Spontaneous lateral sphenoid cephaloceles arise from bony defects in the lateral sphenoid, in the absence of predisposing factors such as trauma, surgery, mass, or congenital skull base malformation. We reviewed CT and MR imaging findings and clinical data of 26 patients with spontaneous lateral sphenoid cephaloceles to better understand anatomic contributions to pathogenesis, varying clinical and imaging manifestations, and descriptive terminology. Two types of spontaneous lateral sphenoid cephaloceles were identified. In 15 of 26 patients, a type 1 spontaneous lateral sphenoid cephalocele was noted, herniating into a pneumatized lateral recess of the sphenoid sinus, and typically presenting with CSF leak and/or headache. In 11 of 26 patients, a type 2 spontaneous lateral sphenoid cephalocele was noted, isolated to the greater sphenoid wing without extension into the sphenoid sinus, presenting with seizures, headaches, meningitis, cranial neuropathy, or detected incidentally. All patients had sphenoid arachnoid pits, and 61% of patients had an empty or partially empty sella, suggesting that altered CSF dynamics may play a role in their genesis.

Background and Purpose: The craniopharyngeal canal is a rare, well-corticated defect through the midline of the sphenoid bone from the sellar floor to the anterosuperior nasopharyngeal roof. We reviewed a series of craniopharyngeal canals to determine a system of classification that might better our understanding of this entity, highlight the range of associated pathologic conditions, and optimize patient treatment., Materials and Methods: Available MR imaging, CT, and clinical data (from 1989-2013) of 29 patients (10 female, 15 male, 4 unknown; median age, 4 years; age range, 1 day-65 years) with craniopharyngeal canals were retrospectively examined. Qualitative assessment included orthotopic or ectopic adenohypophysis and the presence of a tumor and/or cephalocele. The midpoint anteroposterior diameter was measured. Clinical and imaging data were evaluated for pituitary dysfunction and accompanying anomalies., Results: Craniopharyngeal canals were qualitatively separated into 3 types: incidental canals (type 1); canals with ectopic adenohypophysis (type 2); and canals containing cephaloceles (type 3A), tumors (type 3B), or both (type 3C), including pituitary adenoma, craniopharyngioma, dermoid, teratoma, and glioma. Quantitative evaluation showed a significant difference (P < .0001) in the anteroposterior diameters of type 1 canals (median, 0.8; range, 0.7-1.1 mm), type 2 canals (median, 3.9, range, 3.5-4.4 mm), and type 3 canals (median, 9.0; range, 5.9-31.0 mm) imparting small, medium, and large descriptors. Canals with cephaloceles all contained an ectopic adenohypophysis. The craniopharyngeal canals were associated with pituitary dysfunction (6/29) and congenital anomalies (8/29)., Conclusions: Accurate diagnosis and classification of craniopharyngeal canals are valuable to characterize lesions requiring surgery, identify patients with potential pituitary dysfunction, and avoid iatrogenic hypopituitarism or CSF leak during surgical resection of nasopharyngeal masses.

Muenke syndrome caused by point mutation (C749G) in the FGFR3 gene affects 1 in 30,000 newborns and accounts for 25% to 30% of genetic causes of craniosynostosis. Anomalies in patients with Muenke syndrome include craniosynostosis, hypertelorism, sensorineural hearing loss, and developmental delay, among others. Most craniosynostoses in patients with Muenke syndrome involve bicoronal suture fusion. This article reports, for the first time, the existence of squamosal craniosynostosis in patients with Muenke syndrome.

The human orbit communicates with the middle cranial fossa through several canals and openings. Some of them (optic canal, superior orbital fissure) are constant, others (meningo-orbital foramen, Warwick's foramen, metoptic canal) are less frequent. Here we report a rare variation of the foramen rotundum which, opening into the orbit with a branching canal, represented a further connecting pathway between the orbit and the middle cranial fossa. Such variation was detected in about 1.06% of individuals and it was almost always located on the right side. Only in one cases it could be found left-sided and in another skull it was spotted bilaterally. The vari- ation consisted of the branching of a 5 mm long canal from the lateral wall of the foramen rotun- dum that opened into the orbit. In general the diameter of the canal was comprised between 0.5 and 0.6 mm but it could be as large as 1 mm or as thin as 0.2 mm. The canal, straight and directed slightly superolaterally, likely transmitted the zygomatic nerve and/or part of the infraorbital nerve. To our knowledge, an independent entrance through a dedicated canal of such nerves has never been reported. The surgeons operating in this region, either neurosurgeons or ophthalmologists, should be aware of the possible variation in the course of these nerves.

Sphenoid wing dysplasia or absence of the greater sphenoid wing is a rare condition that is considered pathopneumonic for neurofibromatosis type 1 (NF1). It occurs in 4% to 11% of NF1 patients, and its precise cause is unclear. Some cases appear to be congenital, while others have demonstrated it to be a progressive degeneration of the orbital wall. In about half of cases, associated adjacent neurofibromas are described. Consistently, however, the clinical sequelae is herniation of the temporal lobe into the orbit, causing progressive proptosis and pulsatile exophthalmos. Reconstruction of the orbit has traditionally been with bone grafts, but due to problems with bone resorption and recurrence, titanium plates in conjunction with bone grafts have been reported. We present a case of a 6-year-old male patient who was first diagnosed with NF1 and associated absence of the greater sphenoid wing at the age of 2. Four years later, he was referred for reconstruction after the development of pulsatile exophthalmos. Surgical management included dissection of the dura of the temporal lobe off of the periorbita and skull base reconstruction with a combination of radial-shaped titanium mesh and split calvarial bone grafts. Postoperatively, there was near immediate resolution of the pulsatile exophthalmos, and follow-up at 1 year showed no recurrence.

A 39-year-old man with a history of transsphenoidal surgery was scheduled for sagittal split ramus osteotomy. Nasal intubation was successfully performed using a bronchoscope (BF) and a gum elastic bougie (GB). inserted using a BE The BF was then replaced with a GB. We widened his nasal cavity using the nasal airway. Finally, intubation was performed with an endotracheal tube (7.0 mm) using a GB and a Macintosh laryngoscope. Thus, BF and GB could be safely used for nasal intubation in a patient with a history of transsphenoidal surgery.

Spontaneous rhinoliquorrhea with or without meningo-encephaloceles in the region of the sphenoid sinus occurs very infrequently. It is not uncommon that the attempt of transnasal endoscopic duraplasty in this region leads to recurrence of the CSF leak. The existence of a lateral craniopharyngeal canal can be a possible explanation for these failures.Retrospective analysis of 23 patients with rhinoliquorrhea of different pathogenesis in the region of the frontal and central skull base that were treated with transnasal, video-endoscopic surgical procedures in our department between 2006 and 2011.2 of 23 patients with proven rhinoliquorrhea following a transnasal video endoscopic duraplasty procedure showed a recurrence of the CSF leak. The computertomographic analysis with respect to the current literature indicated the presence of a craniopharyngeal canal at the lateral side of the sphenoid sinus. This canal is also known in the literature as Sternberg's canal. In contrast to the other 21 treated cases there were no planar skull base defects of different pathogenesis in these 2 cases, but a ontogenetically bony canal. The canal can reopen spontaneously or due to an external mechanical impact.The closure of this bony canal requires a modified surgical procedure such as sufficient padding of the bony canal and its sealing by a vascularized pedicle flap in contrast to the ordinary planar bony skull base defects., (© Georg Thieme Verlag KG Stuttgart · New York.)

We performed a retrospective review of patients who presented with delayed dystopia as a consequence of an orbital roof defect due to fractures and nontraumatic causes to search for a correlation between orbital roof defect size and surgical indications for the treatment thereof. Retrospective analyses were performed in 7 patients, all of whom presented with delayed dystopia due to orbital roof defects, between January 2001 and June 2011. The causes of orbital roof defects were displaced orbital roof fractures (5 cases), tumor (1 case), and congenital sphenoid dysplasia (1 case). All 7 patients had initially been treated conservatively and later presented with significant dystopia. The sizes of the defects were calculated on computed tomographic scans. Among the 7 patients, aspiration of cerebrospinal fluid, which caused ocular symptoms, in 1 patient with minimal displaced orbital roof and reconstruction with calvarial bone, titanium micromesh, or Medpor in 6 other patients were performed. The minimal size of the orbital roof in patients who underwent orbital roof reconstruction was 1.2 cm (defect height) x 1.0 cm (defect length), 0.94 cm(2). For all patients with orbital dystopia, displacement of the globe was corrected without any complications, regardless of whether the patient was evaluated grossly or by radiology. In this retrospective study, continuous monitoring of clinical signs and active surgical management should be considered for cases in which an orbital roof defect is detected, even if no definite symptoms are noted, to prevent delayed sequelae.

Severity of the Harlequin deformity seen in unicoronal synostosis may be augmented when frontoparietal suture synostosis has an associated fusion of the frontosphenoidal suture or in cases of isolated frontosphenoidal synostosis. The purpose of the current study is to characterize various suture fusion patterns along the coronal ring using a modified orbital index (MOI), orbital angle (OA), and endocranial base (EB) angle.This study is a retrospective single institution cohort study. Charts were reviewed over the past 12 years; patients with isolated UCS were included. MOI, OA, and EB were used to identify 3 groups of UCS patients.Twenty-one patients were identified for inclusion in skeletal dysmorphology analysis using MOI, OA, and EB measures. Frontoparietal synostosis patients were diagnosed at significantly younger ages than frontoparietal + frontosphenoidal patients (P = 0.0001). Ipsilateral MOI measures were more severe for frontoparietal patients compared with frontoparietal + frontosphenoidal patients (P = 0.0239). There was a trend for more severe ipsilateral OA measures in frontoparietal patients compared with frontoparietal + frontosphenoidal patients (P = 0.181).Modified orbital index, OA, and EB measurements are useful in the diagnosis of suture fusion patterns in UCS patients. Frontoparietal synostosis has more severe Harlequin deformity compared with frontoparietal + frontosphenoidal patients. Frontosphenoidal fusion coinciding with frontoparietal synostosis may blunt the severity of skeletal dysmorphology in UCS patients and be associated with a delayed diagnosis. Attention must be paid to assessing the frontosphenoidal suture to assure adequate surgical release.

Objective: The sphenoidal process of the septal cartilage (SP) is a small strip of cartilage between the perpendicular plate of ethmoid bone and vomer. The present study was performed to evaluate the clinical significance of the SP in the development of nasal septal deviation., Study Design: Prospective, controlled., Setting: Academic rhinologic practice., Subjects and Methods: The authors examined 136 patients with nasal septal deviation. The length of SP was measured during septal surgery, and values were compared with the deviation angle. The distance between the anterior nasal spine (ANS) and the breakpoint of the suture line between the septal cartilage and the perpendicular plate of the ethmoid bone (ANS-PPE) and that from the ANS to the point where the choana meets the sphenoid sinus (ANS-CS) were determined and compared according to the age., Results: The mean length of SP in patients with a deviated nasal septum was 25.90 ± 7.82 mm and decreased with age. The average deviation angles at the level of the ostiomeatal unit and nasal valve area were 8.28° ± 3.50° and 10.37° ± 4.38°, respectively. These angles increased with the length of SP (P < .01). The mean length of ANS-PPE showed a significant negative correlation with age. The mean length of ANS-CS had no correlation with age., Conclusion: SP was longer with increasing deviation angle in patients with nasal septal deviation. A long SP, a remnant cartilaginous tail of the nasal septum resulting from delayed ossification of the nasal septum, contributes to the exacerbation of septal deviation.

Since endoscopic technique was introduced in transsphenoidal surgery, the midline skull base from olfactory fossa to craniocervical junction has become available through transnasal corridor. One of the most challenging aspects in these types of surgery is watertight closure of skull base defect and prevention of postoperative CSF leaks. Various materials and sealants are applied in different clinics. Recently mucoperiosteal flap from nasal septum was introduced as "gold standard" for multilayer skull base reconstruction. We present our algorithm for selection of skull base reconstruction technique in endoscopic endonasal surgery. We demonstrate our experience of using of pedicled autografts (middle turbinate and mucoperiosteal flap). Surgical technique of grafting is described in details. Clinical results in 41 surgically treated patients are presented. First results of using of pedicled autografts demonstrated high effectiveness of this technique with acceptable rates of nasal complications in comparison to standard methods.

A 2-year-old girl was referred to our hospital because of a pulsating mass in the roof of the mouth. On examination, a mass measuring 4 × 5 cm was found in the roof of the mouth and nose with a secondary palatal cleft. She had hypertelorism, a bifid nose, and a visible cleft over the dorsum and skin of the nose. In 1 stage, the mass was opened, reduced, and repositioned into the cranial cavity, and the defect was repaired with 2 parallel bridges of split costal bone grafts. The bone grafts were placed between 2 layers of soft tissue and the mucosa repaired over it. Palatal cleft was repaired with the Veau-Wardill-Kilner method 1 year later. Fourteen years later, the bifid nose was corrected using a flying-bird incision and a costal cartilage graft for the dorsum of the nose. On follow-up, minimal scar remained on the tip of the nose. There was neither obliteration nor reduction in the size of the bony defect. There were no operative complications, and the shape of the nose improved. The patient and her parents were highly satisfied with the result., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Even though the doubled foramen rotundum (FR) can be identified once within the literature, there are no details of the contents at that level. We present here an anatomical case demonstrating the maxillary nerve (MN) duplication at the level of an unilateral doubled FR: the accessory nervous trunk of the MN separately left the trigeminal ganglion on the outer side of the MN main trunk and coursed beneath the main trunk of the MN canal, within the sphenoidal greater wing, to join infero-medially that main trunk at the entrance in the pterygopalatine fossa. Overall, the MN appeared as fenestrated, with a thin bony plate separating the two cords of the nerve traversing the skull base. Previously undocumented, the MN duplication may interfere with various surgical exposures interfering with the foramen rotundum and may explain atypical sensory syndromes and functional impairment during skull base trauma or anesthesia.

Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia. Although craniosynostosis is known to occur in allelic conditions such as thanatophoric dysplasia, craniosynostosis in individuals with achondroplasia is exceedingly rare. Due to the distracting diagnosis of achondroplasia or inadequate knowledge of craniosynostosis, the abnormal head shape was initially treated by other physicians with helmet molding. Plastic surgery consultation was obtained at 2 years of age and surgical care was provided. An acceptable head shape was obtained, but the delay in appropriate evaluation was disconcerting. To our knowledge this is the first reported case of isolated frontosphenoidal craniosynostosis associated with achondroplasia.

A report on an unusual combination of anomalies in the head of a female fetus. The authors examined whole body semiserial paraffin sections of a female fetus (155 mm CRL; ∼18 weeks of gestation), with a particular focus on the head region. Cranial autonomic ganglia, nasal olfactory cells, and the orbital muscle were investigated using immunohistochemistry for tyrosine hydroxylase, vasoactive intestinal peptide, calretinin, and smooth muscle actin expression. The surface gross anatomy of the fetus appeared normal. The left eyeball lacked a lens (the eyeballs were otherwise normal). The orbital muscle was very thick and located in the anterolateral side of the extraocular muscles. Conversely, the extraocular muscles made a cluster in the superoposterior side of the orbit. The infratemporal fossa was small due to the bulky, transversely extended lateral pterygoid process in contrast to the small coronoid process of the mandible. The bilateral mandibular bases overlapped at the midline symphysis. The thin orbitosphenoid and thick alisphenoid provided an almost flat, anterior cranial base. Nasal olfactory cells and cranial autonomic ganglia appeared to be normal. No major anomaly was observed in the brain. Because of the changes in topographical anatomy, the orbital muscle probably lost its normal bony attachment and appeared to push the extraocular muscles superoposteriorly. A gene function redundancy rather than mutation may explain the present restricted anomalies in the mandible and pterygoid process., (Copyright © 2011 Wiley-Liss, Inc.)

Introduction: Mice with brachymorphism (bm) have defective chondrogenesis, including abnormal growth of the spheno-occipital synchondrosis. Malocclusion (anterior transverse crossbite) sometimes spontaneously occurs in inbred BALB/c-bm/bm mice, before the mandibular incisors erupt and make contact with the maxillary incisors. The aim of this study was to determine whether functional lateral loads to incisors promote anterior transverse crossbites in BALB/c-bm/bm mice., Methods: BALB/c-bm/bm mice with normal occlusion (normal group), BALB/c-bm/bm mice with malocclusion in which the incisors were not cut (mal group), and BALB/c-bm/bm mice in which the incisors had been cut to eliminate the functional lateral load during continued growth (mal-cut group) were used. We examined the amounts of shift of the maxillary and mandibular incisors in each group using radiographic images., Results: The amount of shift of the maxillary incisors in the mal group was significantly greater than that in normal group. The total amount of shift from the maxilla to the mandible in the mal group was significantly greater than in the normal and mal-cut groups., Conclusions: The results suggest that a continuous functional lateral load to the incisors is strongly related to promoting and worsening anterior transverse crossbite in BALB/c-bm/bm mice., (Copyright © 2010 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.)

Background: Transsphenoidal encephaloceles are rare cystic herniations of meninges, cerebrospinal fluid, and/or brain matter resulting from incomplete closure of the cranial base and may be associated with midfacial, central nervous system, and endocrine anomalies. Although some centers choose not to operate because of risks, the authors document their staged operative approach to avoid recurrent meningitis, progressive neurologic decline, and other symptoms., Methods: Patients with symptomatic transsphenoidal encephaloceles who underwent staged treatment with intracranial and transpalatal cyst correction, facial bipartition, and cleft palate repair were studied (n = 4). Outcome measures included perioperative complications, recurrence, interdacyron distance comparison, and speech and developmental assessments., Results: The authors' staged correction of transsphenoidal encephaloceles as detailed in this article proved successful in all four patients, with no recurrence of meningitis, no cerebrospinal fluid leakage, alleviation of headaches, aesthetic improvement, and no encephalocele relapse. Skeletal correction by computed tomographic scan showed correction of interdacyron distance with a mean 22-mm reduction (56 percent). After the initial procedure of encephalocele correction, speech scores fell from 2.2 (borderline incompetent) to 7.9 (incompetent) but improved after the cleft palate repair and speech therapy to 1.4 (borderline competent). Follow-up developmental tests showed normal global evaluations in memory and attention skills in all but one patient (who had persistent deficiencies consistent with preoperative evaluations)., Conclusion: A staged operative treatment for symptomatic transsphenoidal encephaloceles offers functional and morphologic correction.

An ectopic location of pituitary adenoma is rare. Nasopharyngeal location of ectopic pituitary adenoma has been attributed to remnants of the Rathke pouch. We describe an interesting case of ectopic pituitary adenoma in the setting of partially persistent craniopharyngeal canal. Embryological basis of ectopic pituitary adenoma and craniopharyngeal canal have been discussed.

The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of these bone manifestations can result in significant morbidity. The natural history and pathogenesis of the skeletal abnormalities of this disorder are poorly understood and consequently therapeutic options for these manifestations are currently limited. The Children's Tumor Foundation convened an International Neurofibromatosis Type 1 Bone Abnormalities Consortium to address future directions for clinical trials in skeletal abnormalities associated with this disorder. This report reviews the clinical skeletal manifestations and available preclinical mouse models and summarizes key issues that present barriers to optimal clinical management of skeletal abnormalities in neurofibromatosis type 1. These concepts should help advance optimal clinical management of the skeletal abnormalities in this disease and address major difficulties encountered for the design of clinical trials.

Synostotic frontal plagiocephaly is most commonly caused by frontoparietal (unicoronal) synostosis, but may be caused by other fusions along the coronal hemiring. Frontosphenoidal synostosis is a rare cause of frontal plagiocephaly, with only five previously reported cases. We present the case of an 8-month-old male infant with frontal plagiocephaly caused by unilateral isolated frontosphenoidal synostosis mimicking frontoparietal (unicoronal) synostosis. The clinical and radiological features included flattened ipsilateral forehead, retruded ipsilateral maxilla, a midline chin, contralateral deviation of the nasal root and endocranial base, and anomalies of the bony orbit. Unilateral isolated frontosphenoidal synostosis may be misdiagnosed as unicoronal synostosis. Careful physical and radiological assessment is necessary to recognise this synostotic disorder of the coronal hemiring.

Introduction: Frontal plagiocephaly, a rare congenital deformation of the skull, is one of the most complicated forms of craniosynostosis to treat. The difference between deformational and synostotic frontal plagiocephaly is small. Moreover, the visible deformations are sometimes misleading and may lead to a treatment delay. A multislice CT scan with 3D reconstruction is the preferred diagnostic tool to differentiate between craniosynostosis and deformational causes of plagiocephaly. Still, meticulous examination of all sutures is necessary to exclude any form of craniosynostosis and to prevent misdiagnosis., Aim: A case is presented of a 1-month-old boy with a progressive deformation of the left forehead, which was caused by a stenosis of the left frontosphenoidal suture., Methods: Surgical treatment consisted of a left fronto-orbital advancement. Furthermore, 3D stereophotogrammetry was used for long term follow up, which showed normalisation of the growth pattern of the skull., Conclusion: Isolated frontosphenoidal suture synostosis is a rare cause of frontal plagiocephaly with its own distinct clinical features. Accordingly, careful assessment of a 3D CT scan may reduce treatment delay. Furthermore, 3D stereophotogrammetry proved to be a radiation-free non-invasive patient-friendly method for long term follow up of a child with a skull deformation.

Metopic synostosis is thought to have an incidence of about 1 in 15,000 births. Traditionally, this makes it the third most frequent single-suture craniosynostosis, after scaphocephaly (1 in 4200-8500) and plagiocephaly (1 in 11,000). Our units have, independently from each other, noted a marked increase in the number of metopic synostosis over the recent years. This is a pan-European, retrospective epidemiological study on the number of cases with metopic synostosis born between January 1, 1997, and January 1, 2006. This number was compared to the prevalence of scaphocephaly, the most frequently seen craniosynostosis. In the 7 units, a total of 3240 craniosynostosis were seen from 1997 until 2006. Forty-one percent (n = 1344) of those were sagittal synostosis, and 23% (n = 756) were metopic synostosis. There was a significant increase of the absolute number as well as of the percentage of metopic synostosis over these years (regression analysis, P = 0.017, R2 = 0.578) as opposed to a nonsignificant increase in the percentage of sagittal synostosis (P > 0.05, R2 = 0.368). The most remarkable increase occurred around 2000-2001, with the average of metopics being 20.1% from 1997 to 2000 and 25.5% from 2001 to 2005 (independent t-test, P = 0.002). The sagittal synostosis showed a smaller and nonsignificant increase in the same years: from 39.9% in 1997-2000 leading up to 42.5% in 2001-2005 (independent t-test, P > 0.05). The number of metopic synostosis has significantly increased over the reviewed period in all of our units, both in absolute numbers as in comparison to the total number of craniosynostosis.

Background and Purpose: The causative gene of the common congenital malformation referred to as CHARGE syndrome is CHD7. Affected individuals often undergo head and neck imaging to assess abnormalities of the olfactory structures, hypothalamus-pituitary axis, and inner ear. We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHARGE syndrome. To our knowledge, this anomaly has not been reported. Our purpose was to evaluate the incidence and severity of this anomaly in this syndrome., Materials and Methods: Sagittal MR images of 8 patients with CHARGE syndrome were retrospectively reviewed by 2 radiologists who consensually evaluated the status of the basiocciput of the patients with CHARGE syndrome, as either normal or hypoplastic; and associated anomalies, which include basilar invagination, Chiari type I malformation, and syringomyelia, as either present or absent. The length between the basion (Ba) and the endo-sphenobasion (Es) and between the basion and the exo-sphenobasion (Xs) was measured on midsagittal MR images of the 8 patients and 70 age-matched controls. We searched for trends related to age in the length of Ba-Es and Ba-Xs of the control children by using a matched t test., Results: Basioccipital hypoplasia was identified in 7 of the 8 patients with CHARGE syndrome and was severe in 6. Of those, 5 had associated basilar invagination and 1 had Chiari type I malformation with syringomyelia., Conclusions: Basioccipital hypoplasia and basilar invagination are prevalent in patients with CHARGE syndrome.

Objects: Craniopharyngeal Canal is a rare malformation of the sphenoid bone described in up to 0.42% of the asymptomatic population. It's been related to the development of the Rathke's pouch during embrionary period although some authors think it's a vestige of a former vascular channel., Methods: This report details a case of a four and a half years old child that developed recurrent meningitis associated with this anomaly. Its origin, clinical manifestations and treatment options are discussed., Conclusion: Due to its low incidence and diagnostic difficulties, a high suspicion index is required while studying a case of recurrent meningitis or CSF leakage. Surgical approach is still controversial.

Basal encephaloceles in western countries occur in 1 of every 35 000-40 000 live births; with an incidence of less than 10% they are the least common of all encephaloceles. Certain subtypes such as transsphenoidal variants may be as rare as 1 in 700 000 live births. These rare encephaloceles are classified into five anatomic types: spheno-ethmodial, transsphenoidal, spheno-orbital, transethmoidal, and spheno-maxillary. Here we present an exceedingly rare variant of a non-midline basal encephalocele of the spheno-orbital type, which was treated by resection of the encephalocele, which contained dysplastic central nervous system tissue, on day four post partum. The patient had no neurological deficits and a six year follow-up showed a normal intellect and a good cosmetic result.

Of the single-suture craniosynostoses, unicoronal synostosis (UCS) is widely acknowledged to represent the most varied and complex set of craniofacial deformities. This is attributed to the endocranial base being affected along with the coronal suture. This deformity may present with both coronal and frontosphenoidal synostosis and has been associated with elevated intracranial pressure; brain morphological abnormalities; vertical dystopia; ambylopia; malformations of the forehead, orbit, midface, and mandible; and behavioral, cognitive, and speech abnormalities. It is the variable structural presentation coupled with the long-term stability of the reconstruction that forms a complex reconstructive challenge. Our surgical technique concordantly addresses these associated structures beyond the isolated coronal suture. Although several surgical techniques have previously been described, there remains no consensus toward a preferred surgical approach to this dynamic and three-dimensional problem. We describe our technique of coronal and frontosphenoidal synostosis release as part of a frontotemporoparietal bone flap, release of the entire fronto-orbital rim, and use of the unaffected skull to reconstruct the affected half of the skull. The purpose of our study was to describe our surgical approach to UCS. It has been our experience that optimal correction of UCS must address the associated anomalies beyond the affected coronal suture and must be stable over time.