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.

Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note.

Cranium bifidum occultum is a disorder of skull ossification presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone near the intersection of the sagittal and lambdoid sutures. The standard treatment for cranium bifidum occultum is observation. We present a case of a 5-year-old boy who presented with a 15 × 4.5 cm midline posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose. The patient underwent posterior vault reconstruction for correction of cranium bifidum occultum defect followed by bifrontal craniotomy and orbital box osteotomies for correction of orbital hypertelorism and nasal deformity. To our knowledge, this is the first reported case describing surgical treatment for cranium bifidum occultum associated with orbital hypertelorism.

Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation.

OBJECTIVE: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using three-dimensional (3D) surface imaging, we tested whether different forms of clefting showed evidence of increased interorbital distance. METHODS: Intercanthal and outercanthal distances and intercanthal indices were calculated from 3D facial surface images of 287 individuals with repaired OFCs. Raw measurements were converted to sex and age-normalized Z-scores. Mean Z-scores for individuals with cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP) were compared with reference normative values (controls) and one another directly using t tests and analysis of variance. RESULTS: The CLP group showed a significant increase in intercanthal width (P = .001) and intercanthal index (P < .001) compared with reference norms. The CP group showed a significant decrease (P < .001) in outercanthal width. The CL group showed no difference from reference norms. The proportion of clinically hyperteloric individuals was generally low but highest in the CLP group (7.4%). Cleft severity had little effect on interorbital spacing. CONCLUSIONS: Individuals with CLP exhibited on average a tendency toward mild hypertelorism, driven primarily by an increase in intercanthal distance. This tendency was not seen in CL or CP.

Quantification of Bone Marrow Edema by Magnetic Resonance Imaging Only Marginally Reflects Clinical Neck Pain Evaluation in Rheumatoid Arthritis and Ankylosing Spondylitis.

OBJECTIVE: Neck pain is common in rheumatoid arthritis (RA) and ankylosing spondylitis (AS). We investigated the correlation of bone marrow edema (BME) on magnetic resonance imaging (MRI) in RA and AS and its association with clinical complaints of neck pain. METHODS: Cervical spine short-tau inversion recovery-MRI and T1w-MRI of 34 patients with RA and 6 patients with AS complaining about neck pain were obtained. Clinical and laboratory data were available. BME was scored by 2 blinded readers using a modification of a published score, including various cervical sites. Degenerative changes were also quantified. RESULTS: Patients were predominantly women (82.5%), and mean ± SD age was 57.5 ± 11.8 years, C-reactive protein (CRP) was 0.8 ± 1.3 mg/dl, and pain score was 46.0 ± 17.5. BME was detected in 24/40 patients (60%) involving the atlantoaxial region (21%), vertebral bodies (75%), facet joints (29%), and spinous processes (46%). Degenerative changes were identified in 21/40 patients (52.5%), 13 (62%) of whom also had BME in vertebral bodies. No differences were found between patients with versus without cervical BME for clinical assessments: numeric rating scale pain (median ± interquartile range) 5.5 ± 3.0 vs 6.0 ± 4.0 (p = 0.69), Funktionsfragebogen Hannover 68.2 ± 41.0 vs 42.0 ± 55.5 (p = 0.19), Northwick pain score 44.4 ± 21.8 vs 47.2 ± 27.0 (p = 0.83), or CRP 0.40 ± 0.80 vs 0.60 ± 0.66 (p = 0.94). For patients with degenerative changes, symptom duration was longer than for patients without (10 ± 12.5 vs 5.0 ± 18.0 yrs, p = 0.73). CONCLUSION: In this small study of patients with RA and AS complaining about neck pain, BME was found in many different cervical sites, including the facet joints and the spinous processes. However, the occurrence and severity of BME did not correlate with the severity of neck pain.

Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism.

BACKGROUND: Augmented reality (AR) technology can superimpose the virtual image generated by computer onto the real operating field to present an integral image to enhance surgical safety. The purpose of our study is to develop a novel AR-based navigation system for craniofacial surgery. We focus on orbital hypertelorism correction, because the surgery requires high preciseness and is considered tough even for senior craniofacial surgeon. METHODS: Twelve patients with orbital hypertelorism were selected. The preoperative computed tomography data were imported into 3-dimensional platform for preoperational design. The position and orientation of virtual information and real world were adjusted by image registration process. The AR toolkits were used to realize the integral image. Afterward, computed tomography was also performed after operation for comparing the difference between preoperational plan and actual operational outcome. RESULTS: Our AR-based navigation system was successfully used in these patients, directly displaying 3-dimensional navigational information onto the surgical field. They all achieved a better appearance by the guidance of navigation image. The difference in interdacryon distance and the dacryon point of each side appear no significant (P > 0.05) between preoperational plan and actual surgical outcome. CONCLUSIONS: This study reports on an effective visualized approach for guiding orbital hypertelorism correction. Our AR-based navigation system may lay a foundation for craniofacial surgery navigation. The AR technology could be considered as a helpful tool for precise osteotomy in craniofacial surgery.

The value of three-dimensional printing modelling for surgical correction of orbital hypertelorism.

Orbital hypertelorism is defined as an increased distance between both medial and lateral sides of the orbits. Most common causes are frontonasal malformations, craniofacial fissures, encephalocele and a miscellaneous group of various syndromic or chromosomal disorders. Surgical correction of orbital hypertelorism is still challenging. The present report describes a case of severe orbital hypertelorism of an 11-year-old boy, where surgical correction was planned using three-dimensional printing modelling. This approach allowed reducing time of surgery, accurately planning the location of the osteotomies and precontouring the osteosynthesis material. Three-dimensional models are very helpful tools in planning complex craniofacial operative procedures.

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.

Craniofrontonasal syndrome (CFNS; OMIM # 304110) is a rare X-linked disorder with greater severity in heterozygous females than in hemizygous males. CFNS is characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, downslant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton. There are very few cases describing association of CFNS with heart defects. We discuss a very rare feature: atrial septal defect in a molecularly confirmed case of CFNS.

Horizontal eye position in thyroid eye disease: a retrospective comparison with normal individuals and changes after orbital decompression surgery.

OBJECTIVE: To compare horizontal eye positions between proptotic thyroid eye disease patients and normal individuals, and to examine positional changes after orbital decompression surgery in thyroid eye disease patients. METHODS: The present case-controlled and retrospective comparative study included 78 proptotic thyroid eye disease patients who underwent bilateral orbital decompression surgery [lateral orbital wall decompression (Group L), 47 patients; medial orbital wall decompression (Group M), 9 patients; and balanced orbital decompression (Group B), 22 patients] and 143 age-matched healthy volunteers as controls. The interpupillary distance was measured to determine horizontal eye positions before and 3 months after surgery in thyroid eye disease patients and was also examined in control eyes. Horizontal eye shifts were calculated by subtracting postoperative from preoperative interpupillary distances. RESULTS: Preoperative interpupillary distances in thyroid eye disease patients were significantly larger than in controls. The interpupillary distances were significantly decreased postoperatively in Groups M and B, but were significantly increased in Group L. The order of the magnitude of the horizontal shifts was Groups M>B>L. CONCLUSIONS: Proptotic thyroid eye disease patients preoperatively showed laterally displaced eyes in comparison with controls. However, the eyes shifted medially after the medial orbital wall decompression and the balanced orbital decompression, although the former showed more shift. Medial orbital wall or balanced orbital decompression can be used to correct both lateral and anterior displacement of the eyes.

Dental Anomalies Associated with Craniometaphyseal Dysplasia.

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual expansion of jawbones, more pronounced in mandibles than in maxillae. There was no measurable increase in bone density compared with that in unaffected individuals. Orthodontic cephalometric analysis showed that patients with CMD tend to have a short anterior cranial base, short upper facial height, and short maxillary length. Microcomputed tomography (micro-CT) analysis in homozygous Ank (KI/KI) mice, a model for CMD, showed that molars can be moved by orthodontic force without ankylosis, however, at a slower rate compared with those in wild-type Ank (+/+) mice (p < .05). Histological analysis of molars in Ank (KI/KI) mice revealed decreased numbers of TRAP(+) osteoclasts on the bone surface of pressure sides. Based on these findings, recommendations for the dental treatment of patients with CMD are provided.

Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.

OBJECTIVES: To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. STUDY DESIGN: Retrospective chart study. SETTING: Tertiary referral center. PATIENTS: One large consanguineous family was examined. Three patients underwent exploratory tympanotomy. INTERVENTION: Exploratory tympanotomies in three patients. MAIN OUTCOME MEASURES: Medical and otological histories; postoperative hearing outcomes. RESULTS: In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome. CONCLUSIONS: Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.

Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options.

Craniometaphyseal dysplasia (CMD) is a very rare bone disorder characterized by abnormally developed metaphyses in long bones and sclerosis of the craniofacial bones. In this paper, the authors report 2 cases of children diagnosed with CMD and chronic intracranial hypertension with deletion in exon 9 of the human ANK gene (ANKH). After intracranial monitoring, a different treatment was chosen for each patient. One of the patients was treated using CSF shunting because ventriculomegaly in the absence of a Chiari malformation was also observed on cerebral MR imaging. The other patient underwent cranial expansion and decompressive craniotomy of the posterior fossa, because ventriculomegaly was excluded after cerebral MR imaging and cervical MR imaging showed a Chiari malformation Type I. The origin of intracranial hypertension in CMD is multifactorial. Previous intracranial pressure monitoring and a thorough understanding of neuroimaging studies are essential to achieve an accurate diagnosis and effective treatment.

Antenatal three-dimensional sonographic features of Roberts syndrome.

INTRODUCTION: We present a fetus whose characteristics most likely represent Roberts syndrome. CASE REPORT: Prenatal diagnosis at 21 weeks and 1 day age of gestation was made employing conventional two-dimensional (2D) sonography, showing shortened upper and lower extremities. An umbilical cord cyst was also noted. Three-dimensional (3D) sonography revealed additional abnormalities which included bilateral hypoplastic and proximal implantation of the thumb, exophthalmic eyes, and suspected cleft lip. Shortened upper extremities, contracted legs, and an umbilical cord cyst were also clearly confirmed. Transparent X-ray mode uncovered the absence of radial and ulnar bones. Subtle fetal structures were readily discernible with 3D sonography so that the family could understand the fetal condition in utero. They underwent counseling, and opted for termination of the pregnancy. The sonographic findings were confirmed after delivery, supported by a 3D computed tomographic skeletal survey. CONCLUSION: To the best of our knowledge, this is the first report of Roberts syndrome employing antenatal 3D sonographic imaging.

[A new prenatal diagnosis case of frontonasal dysplasia]. / Un nouveau cas de diagnostic anténatal de dysplasie frontonasale.

In a 30-year-old patient, the systematic second trimester fetal ultrasound discovered major facial abnormalities suggesting a frontonasal dysplasia (FND). The fetal karyotype was normal but no additional genetic testing was performed. Fetal MRI found an important hypertelorism and an asymmetric cerebral ventricle, with a partially visualized corpus callosum. After several consultations and interviews, the couple made a formal demand for pregnancy interruption, which was approved. Fetal pathologic examination confirmed the diagnosis of FND with no other major associated malformation. This rare pathology results from a midline facial dysgraphia comprising a hypertelorism, a large nasal base, a large clefted nose tip and, a V-shaped hair implantation on the forehead. It often occurs sporadically, of unknown cause, related to a defect in the embryonic nasal capsule development. Syndromic forms have been described with cerebral lesions and possible intellectual deficiency. Consequently, a long and difficult surgical management is necessary, at the expense of poor aesthetic outcome. Seven cases of prenatally diagnosed FND have been reported in the literature, three of which had 3D ultrasound.

Early prenatal diagnosis of skeletal anomalies.

OBJECTIVE: To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management. METHODS: A retrospective review of fetal medicine unit (FMU) records was performed to identify cases where a skeletal dysplasia was suspected by 14 weeks' gestation. A literature review was undertaken to ascertain cases with a diagnosis of a skeletal dysplasia in the late first or early second trimester. RESULTS: Fifteen cases were identified from review of FMU records, including ten different dysplasias with a variety of inheritance patterns. Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Roberts syndrome. Review of the literature identified further cases. Increased nuchal translucency was reported in other cases subsequently diagnosed as having a skeletal dysplasia. In early pregnancy, common presenting features included short femora, abnormal skull shape and mineralisation, profile or chest. CONCLUSION: Increasing use of first-trimester combined screening for Down's syndrome, with or without detailed anomaly scanning, will result in early detection of more skeletal dysplasias. Parents must be made aware that detailed postnatal pathological and radiological examination is usually required for accurate diagnosis and prediction of recurrence risks.

Refinement of the correction of orbital hypertelorism.

The objective of this article was to explore the effect of paraorbital soft-tissue expansion before orbital osteotomies and medial translocation by combined intracranial-extracranial approach. Tissue expansion was implanted in the zygomatic and temporal region 3 weeks before traditional operation in 2 cases of severe orbital hypertelorism. The measurements of interorbital and intercanthal distance were studied preoperatively and postoperatively by three-dimensional computed tomography. The interorbital distance of the 2 patients decreased from 4.4 and 3.2 cm to 2.0 and 1.4 cm, respectively. The intercanthal distance decreased from 6.7 and 4.8 cm to 5.0 and 3.8 cm, respectively. The paraorbital soft-tissue-expansion technique may be an effective technique for the stability of the corrected orbital framework and the prevention of reoccurrence in severe cases of orbital hypertelorism.

Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings.

There are significant differences in the ocular manifestations of Apert and Crouzon syndromes. Here, we present qualitative and quantitative data about the oculo-orbital region to demonstrate these differences. Although ocular protosis and hypertelorism characterize both disorders, the nature of the orbital dystopia differs. In Crouzon syndrome, ocular proptosis is primarily caused by retrusion of the lateral and inferior orbital margins with a very short orbital floor. In Apert syndrome, the eyeglobe actually protrudes in relation to the cranial base and to the orbit, probably resulting from marked protrusion of the lateral orbital wall. The implications account for some of the differences encountered. Asymmetry is associated with Apert syndrome frequently. Exotropia is found in Crouzon syndrome, whereas the V pattern is more characteristic in Apert syndrome with divergent upgaze and esotropic downgaze. Subluxation of the eyeglobe is found in some cases of Crouzon syndrome but is not found in Apert syndrome. Optic atrophy found in approximately 20% of Crouzon syndrome patients is not characteristic of Apert syndrome. Structural alterations of the extraocular muscles have been associated with some cases of Apert syndrome, suggesting that ocular motility disturbances in Apert syndrome may not be caused solely by mechanical factors. Absence of the superior rectus and other extraocular muscles has been recorded. Furthermore, albinoid alterations of the fundus have also been associated with Apert syndrome.

Craniofrontonasal dysplasia associated with Chiari malformation.

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented.