Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.

OBJECTIVES: To determine whether dental maturity (dental development) was delayed in patients with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis, compared with a Dutch control group without syndromes. MATERIALS AND METHODS: This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8-16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. Dental age was calculated according to Demirjian's index of dental maturity. The control group included 451 children without a syndrome. RESULTS: Compared with the control group, dental development was delayed by an average of one year in 5- to 8-year-old patients with Muenke syndrome (P = 0.007) and in 8- to 10-year-old patients with Saethre-Chotzen syndrome (P = 0.044), but not in patients with TCF12-related craniosynostosis. CONCLUSIONS: Our results indicated that dental development was delayed by one year, on average, in patients with Muenke syndrome and Saethre-Chotzen syndrome, compared with a Dutch control group without syndromes. IMPLICATIONS: Our findings have improved the understanding of dental development in patients with Muenke and Saethre-Chotzen syndrome. These results can provide guidance on whether the orthodontist needs to consider growth disturbances related to dental development.

Morphological Basis for Airway Surgical Intervention in Apert Syndrome.

OBJECTIVE: Previous studies have explored the restricted nasopharyngeal airway in Apert syndrome patients. This study aims to investigate the segmented airway volume changes with age and directly analyze their correlations with subcranial dimensions and angulations. METHODS: Ninety-seven preoperative computed tomography scans (Apert, n = 44; control, n = 53) were included in this study, and divided into 5 age-related subgroups. Computed tomography scans were measured using Mimics and 3-matics software. RESULTS: Before 6 months of age, the nasal cavity in Apert syndrome is reduced by 47% (P = 0.002), which gradually approximates normal thereafter; however, there remained a 30% reduction, compared with controls. It is highly correlated with the anteroposterior length of subcranial space, and the position of maxilla and palate. The pharyngeal airway volume in Apert syndrome patients, younger than 6 months, was larger than normal by 129% (P = 0.013). However, between 2 and 6 years of age, the pharyngeal airway becomes smaller than normal, with a 57% (P = 0.010) reduction in childhood and 52% (P = 0.005) in adolescence. It is closely correlated with the intercondylar and intergonial widths. CONCLUSIONS: Airway compromise in Apert syndrome patients is attributable more to the nasal cavity in infants, but in the older child, it is the pharyngeal region. The restricted nasal airway in Apert syndrome is correlated with the subcranial space length and width, but independent of cranial base flexion. The pharyngeal airway volume in Apert syndrome is not as highly correlated with craniofacial morphology. Rather, it is impacted by the growth of mandible, which often requires surgical intervention later in childhood.

Local Soft Tissue and Bone Displacements Following Midfacial Bipartition Distraction in Apert Syndrome - Quantification Using a Semi-Automated Method.

ABSTRACT: Patients with Apert syndrome experience midfacial hypoplasia, hypertelorism, and downslanting palpebral fissures which can be corrected by midfacial bipartition distraction with rigid external distraction device. Quantitative studies typically focus on quantifying rigid advancement and rotation postdistraction, but intrinsic shape changes of bone and soft tissue remain unknown. This study presents a method to quantify these changes. Pre- and post-operative computed tomography scans from patients with Apert syndrome undergoing midfacial bipartition distraction with rigid external distraction device were collected. Digital Imaging and Communications in Medicine files were converted to three-dimensional bone and soft tissue reconstructions. Postoperative reconstructions were aligned on the preoperative maxilla, followed by nonrigid iterative closest point transformation to determine local shape changes. Anatomical point-to-point displacements were calculated and visualized using a heatmap and arrow map. Nine patients were included.Zygomatic arches and frontal bone demonstrated the largest changes. Mid-lateral to supra-orbital rim showed an upward, inward motion. Mean bone displacements ranged from 3.3 to 12.8 mm. Soft tissue displacements were relatively smaller, with greatest changes at the lateral canthi. Midfacial bipartition distraction with rigid external distraction device results in upward, inward rotation of the orbits, upward rotation of the zygomatic arch, and relative posterior motion of the frontal bone. Local movements were successfully quantified using a novel method, which can be applied to other surgical techniques/syndromes.

Maxillary Changes Following Facial Bipartition - A Three-Dimensional Quantification.

INTRODUCTION: Children with Apert syndrome have hypertelorism and midfacial hypoplasia, which can be treated with facial bipartition (FB), often aided by rigid external distraction. The technique involves a midline osteotomy that lateralizes the maxillary segments, resulting in posterior cross-bites and midline diastema. Varying degrees of spontaneous realignment of the dental arches occurs postoperatively. This study aims to quantify these movements and assess whether they occur as part of a wider skeletal relapse or as dental compensation. METHODS: Patients who underwent FB and had high quality computed tomography scans at the preoperative stage, immediately postsurgery, and later postoperatively were reviewed. DICOM files were converted to three-dimensional bone meshes and anatomical point-to-point displacements were quantified using nonrigid iterative closest point registration. Displacements were visualized using arrow maps, thereby providing an overview of the movements of the facial skeleton and dentition. RESULTS: Five patients with Apert syndrome were included. In all cases, the arrow maps demonstrated initial significant anterior movement of the frontofacial segment coupled with medial rotation of the orbits and transverse divergence of the maxillary arches. The bony position following initial surgery was shown to be largely stable, with primary dentoalveolar relapse correcting the dental alignment. CONCLUSIONS: This study showed that spontaneous dental compensation occurs following FB without compromising the surgical result. It may be appropriate to delay active orthodontic for 6-months postoperatively until completion of this early compensatory phase.

Facial Dysmorphology in Saethre-Chotzen Syndrome.

PURPOSE: Classic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and mandibular prognathism. The purpose of this study was to evaluate objectively the bony features of SCS. METHODS: Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndromic craniosynostosis patients were included for analysis. Unaffected controls and nonsyndromic patients were age- and sex-matched to SCS patients. Morphometric cephalometrics were analyzed using three-dimensional computer tomography reconstructions. Mann-Whitney U were used to compare facial measurements between SCS and normal and nonsyndromic craniosynostosis controls. RESULTS: Telorbitism was present in bicoronal SCS patients only (P = 0.04) but absent in the unicoronal and bicoronal/metopic cohorts. The angle of the nasal bone relative to the sella was not different between SCS and controls (P = 0.536), although the angle of the nasal bone relative to the forehead was decreased in SCS by 15.5° (P < 0.001). Saethre-Chotzen syndrome had a 2.6° maxillary retrusion relative to controls (P = 0.03). In addition, SCS patients aged 4 to 7 months had a wider (39.34 versus 35.04, P = 0.017) and anteroposteriorly foreshortened (32.12 versus 35.06, P = 0.039) maxilla. There was no difference in mandibular prognathism among SCS patients as measured by the sella-nasion-B point angle compared to controls (P = 0.705). CONCLUSIONS: Despite classic descriptions, on morphometric analysis SCS patients did not demonstrate consistency across all suture subtypes in terms of telorbitism, a broad nasal bridge, or mandibular prognathism. Rather, SCS subtypes of SCS based on suture pathology more closely resemble nonsyndromic patients.

Lateral and Frontal Cephalometric Measurements in a Cohort With Saethre-Chotzen Syndrome.

OBJECTIVE: Descriptions of the craniofacial morphology in Saethre-Chotzen syndrome (SCS) are primarily based on case reports or visual assessments of affected families. The aim of this study was to compare cephalometric measurements of the craniofacial skeleton in a cohort of individuals with SCS and age- and sex-matched individuals without craniofacial anomalies. DESIGN: Retrospective case series. PATIENTS: Eight girls and 4 boys with SCS (age range, 7.0-19.2 years). METHODS: Cephalometric measurements were performed using lateral and frontal cephalograms. RESULTS: Most of the individuals with Saethre-Chotzen syndrome exhibited lower values for SNA, SNB, s-n and s-ar, while their NSL/NL, NSL/ML, NL/ML, and n-s-ba values were higher than the respective mean reference values for healthy individuals. In comparison with age- and sex-matched individuals without craniofacial anomalies, the individuals with SCS showed higher values for the maxillary and mandibular angular measurements, as well as for the menton midline angle. CONCLUSIONS: This sample of 12 unrelated individuals with SCS is the largest collected to date for cephalometric measurements. We found that the syndrome is associated with bimaxillary retrognathism, posterior maxillary and mandibular inclination, neutral sagittal relation as well as a tendency toward an open vertical skeletal relation, a short and flattened skull base, and facial asymmetry, as compared to individuals without the syndrome.

Circummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications.

OBJECTIVE: To evaluate patency of circummaxillary sutures in children with Apert, Crouzon, and Pfeiffer Syndromes and to compare it to a nonsyndromic matched control group. DESIGN: Case-control study. SETTING: Tertiary care public hospital. MATERIALS AND METHODS: Thirty-eight computed tomography (CT) scans of patients affected by syndromic craniofacial synostosis (13 patients with Apert syndrome, 20 patients with Crouzon syndrome, and 5 patients with Pfeiffer syndrome), average age 5 ± 2.8 years, range 1.9 to 12 years, were compared to age- and sex-matched control CTs of 38 nonsyndromic children. Computed tomography scans of the study group had to be performed prior to any midfacial surgery. MAIN OUTCOME MEASURES: Midpalatal suture, zygomaticomaxillary sutures, and pterigomaxillary sutures were evaluated and scored. RESULTS: The syndromic group showed a significant earlier ossification of all sutures compared to the nonsyndromic group. Significant differences were already present in early childhood and continued through adolescence. CONCLUSIONS: Based on the differences in terms of maxillary sutural ossification identified, midfacial hypoplasia does not seem to be only secondary to premature cranial base ossification, but also to primary synostosis of facial sutures, thus providing new insights into the pathogenesis of midface deficiency in children with craniofacial-synostosis. Care should be taken when planning any maxillary orthopedics, such as expansion or maxillary protraction, given the high frequency of early fusion of circummaxillary sutures.

Craniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome.

BACKGROUND AND OBJECTIVES: Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene are responsible for both Apert syndrome (AS) and Crouzon syndrome (CS). These diseases share phenotypic characteristics, including midfacial hypoplasia and premature fusion of the calvarial suture(s). Given the extensive range of craniofacial growth and developmental abnormalities, management of these patients requires a multidisciplinary approach. This study aimed to compare craniofacial, oral, and cervical morphological characteristics in Japanese orthodontic patients with AS or CS. SUBJECTS AND METHODS: Lateral cephalograms, orthopantomograms, dental casts, medical interview records, facial photographs, and intraoral photographs of 7 AS patients and 12 CS patients on initial visits were used in this study. Cephalometric analyses were performed, and standard scores were calculated based on age- and sex-matched Japanese standard values. RESULTS: Cephalometric analysis revealed that AS patients had significantly more severe maxillary hypoplasia in two dimensions and increased clockwise mandibular rotation. Additionally, cleft of the soft palate, anterior open bite, severe crowding in the maxillary dental arch, and congenitally missing teeth occurred more frequently among AS patients. Multiple fusions between cervical vertebrae C2, C3, C5, and C6 were observed in the AS patients. LIMITATIONS: Small sample size. CONCLUSIONS/IMPLICATIONS: Our study shows that AS patients have more severe craniofacial and maxillofacial deformities than CS patients.

Mandibular Spatial Reorientation and Morphological Alteration of Crouzon and Apert Syndrome.

BACKGROUND: From infancy to adulthood, the mandible develops increased ramus height, prominence of the chin, and laterally widened gonial angles. In Crouzon and Apert syndromes, both relative retrognathia and prognathic jaws have been reported. Growth is influenced by a variety of factors, including the growth and relative position of the skull base, functional coordination, and the spatial influence of the laryngopharynx. Thus, this study aimed to explore in detail the evolution of the mandible in both syndromes and its relationship with the entire facial structure and skull base. METHODS: One hundred twenty-three preoperative computed tomographic scans (Crouzon, n = 36; Apert, n = 33; control, n = 54) were included and divided into 5 age subgroups. Computed tomographic scans were measured using Materialise software. Cephalometrics relating to the mandible, facial structures, and cranial base were collected. Statistical analyses were performed using t test and statistical power analysis. RESULTS: In Crouzon syndrome, the angle between the cranial base and gnathion was increased prior to 6 months of age by 10.29 degrees (P < 0.001) and by adulthood to 11.95 degrees (P = 0.003) compared with normal. After 6 months of age, the distance between bilateral mandibular condylions (COR-COL) was narrower by 15% (P < 0.001) in Crouzon syndrome compared with control subjects. Before 6 months of age, Apert COR-COL decreased 16% (P < 0.001) compared with control subjects and 13% (P = 0.006) narrower than Crouzon. During 2 to 6 years of age, Apert mandibular ramus height caught up to, and became longer than, Crouzon by 12% (P = 0.011). The nasion-sella-articulare angle of the Apert skull was 5.04 degrees (P < 0.001) less than Crouzon overall. CONCLUSIONS: In Crouzon syndrome, the changes of the spatial relationship of the mandible to the cranial base develop earlier than the mandibular shape deformity, whereas in Apert syndrome, the spatial and morphological changes are synchronous. The morphological changes of the mandible are disproportional in 3 directions, initially significant shortening of the mandibular width and length, and, subsequently, reduced height. Crouzon has more shortening in mandibular height compared with Apert, reflecting the more shortened posterior cranial base length. The narrowed angle between the mandible and the posterior cranial base in Apert skulls is consistent with the more limited nasopharyngeal and oropharyngeal airway space.

Temporal Evaluation of Craniofacial Relationships in Apert Syndrome.

Complicated craniofacial malformations interfacing with multiple intracellular regulatory mechanisms, lead to ambiguous growth patterns in Apert syndrome. This study aims to explore the chronology and pathogenesis of the development of craniofacial anatomic relationships and to verify the positional correlates between skull and facial structures in Apert syndrome. Fifty-four computed tomography scans (Apert, n = 18; control, n = 36) were included and divided into 3 age subgroups. Craniofacial 3-dimensional cephalometries were analyzed by Materialize software. The angle between sella-nasion plane and maxillary plane widens 7.74° (P = 0.003) prior to 6 months of age; thereafter, this widening increases by 10.36° (P < 0.001) in 6 months to 2 years of age, and remains increased by 8.9° (P = 0.046) throughout childhood. The angle between Frankfort horizontal plane and maxillary plane widens 5.17° (P = 0.022) before 6 months. Angles SNA, SNB, and ANB showed decreases, averaging 12.23° (P < 0.001), 5.19° (P = 0.004), and 6.72° (P = 0.001), respectively. The linear measurements showed synchronicity and continuing deformity into adulthood. Between 6 months to 2 years of age, the distance from sella to nasion (S-N), anterior nasal spine (S-ANS), and posterior nasal spine (S-PNS) decreased 8% (P = 0.006), 16% (P < 0.001), and 19% (P = 0.002), respectively, and remained shortened into adulthood. The angulation changes occur earlier in development than linear distance reduction in Apert syndrome patients compared with controls. Angular adjustments were not sufficient to maintain normal cranial base length. Facial deformity of Apert syndrome temporally begins with the midface, and affects orbit and mandible later in life.

Mandibular asymmetry in patients with the crouzon or apert syndrome.

The aim of this study was to describe directional and fluctuating mandibular asymmetry over time in children with Crouzon or Apert syndrome. Mandibular asymmetry of children between 7.5 and 14 years of age with Crouzon syndrome (n = 35) and Apert syndrome (n = 24) were compared with controls (n = 327). From panoramic radiographs, mandibular directional and fluctuating asymmetry was determined for the three groups. Multilevel statistical techniques were used to describe mandibular asymmetry changes over time. Patients with Crouzon and Apert syndromes showed statistically significant more fluctuating asymmetry for mandibular measures than did controls. Between the Crouzon and Apert syndromes groups, no statistical differences were found in directional and fluctuating asymmetry. The control group showed statistically significantly more directional asymmetry than did patients with Crouzon or Apert syndrome. The controls showed no change over time for the directional asymmetry of condylar-ramal height; however, the directional asymmetry of the gonial angle increased. Patients with Crouzon syndrome showed side dominance for only condylar-ramal height; whereas, patients with Apert syndrome did not show dominance for any of the measurements. Apert and Crouzon syndromes showed developmental instability, in contrast to the controls. No statistically significant longitudinal differences were found for either the directional or the fluctuating asymmetry between Crouzon and Apert syndromes. Findings for fluctuating and directional asymmetry for both syndromes may indicate an inability to cope with genetic and environmental stress during development and treatment, compared with untreated nonsyndromic individuals.

The dental development in patients with Aperts syndrome.

OBJECTIVES: The aim of this retrospective study was to quantify the level of dental developmental delay in a group of patients with Aperts syndrome when compared to matched controls. METHODS: Twenty-six Dental Panoramic Tomographic (DPT) radiographs of patients with Apert syndrome attending Great Ormond Street Hospital were compared to controls (n = 29) from the Eastman Dental Hospital, UK. Dental development was assessed using the staging systems of Demirjian and Haavikko, and dental age (DA) was estimated using the weighted averages method. RESULTS: Dental age, as estimated using the 12 stages of Haavikko and eight stages of Demirjian, suggested no statistical evidence of developmental delay between the Aperts and control group. CONCLUSIONS: The hypothesis 'that there is no difference in the dental development of subjects with Apert syndrome, when compared to a group of matched controls', was accepted.

Simultaneous Le Fort I, II, and III osteotomies for correction of midface deficiency in Apert disease.

Le Fort III osteotomy was usually applied to correct midface hypoplasia in Apert syndrome, and various surgical modifications have been developed in recent years. In this article, we reported the simultaneous Le Fort I, II, and III osteotomies for segmental advancement of midface deficiency involving nasal bones, zygoma, inferior orbital rims, and maxilla in an adult Chinese patient with Apert syndrome. To achieve the ideal advancement of different parts of midface simultaneously, we divided the midface into 4 segments, including nasal bone combined with upper portion of maxilla, lower portion of maxilla, and left and right zygoma, with simultaneous Le Fort I, Le Fort II, and Le Fort III osteotomies, and each segment was repositioned as required respectively to obtain ideal facial aesthetics and favorable occlusion. The long-term stability of bony segment advancements also was observed during 7-year follow-up. Compared with segmental distraction osteogenesis or multiple-stage surgery, which mainly applied to younger patients with more severe midface hypoplasia, this single-stage strategy offered a reliable surgical alternative for treating adult patient with midface hypoplasia that should be corrected in different levels.

Orbital volume and surface after Le Fort III advancement in syndromic craniosynostosis.

There are no quantitative standards for the volumetric measurements of the orbital cavity after Le Fort III advancement. Computed tomography (CT) scan images have given the opportunity to compare with accuracy the real anatomic changes and potentially the functional improvements that resulted after a surgical treatment.Three-dimensional CT scan images processed by DICOM files in Dolphin 3D Software were used to assess orbital volume and surface in 12 subjects affected by craniofacial syndromic malformations treated with Le Fort III advancement. The preoperative (T0) and postoperative (T1: 6 months after surgery) three-dimensional craniofacial CT scans of the subjects were collected and retrospectively analyzed. Image segmentation of the anatomic orbital cavity and the three-dimensional graphic rendering were done by using the Dolphin Imaging Plus 11.0 software.The orbital volume was increased after surgery, with statistical significance, from 22,267 to 22,706.3 mm(3) in the right eye and from 26,511 mm(3) to 26,256.4 mm(3) in the left eye. The surface of both bony orbits had an expansion, which is statistically significant. In conclusion, this study showed that the orbital advancement in white subjects after Le Fort III advancement was significant and produced a significant augmentation of the orbital volume and surface area with correction of the ocular bulb proptosis.

Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.

This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle-Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7-8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case-control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I2: 76.56%; P = 0.014; CI 1.27 to - 0.28) and Greater wing angle (I2: 79.07%; P = 0.008; CI 3.07-1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.

Three-dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome.

Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative three-dimensional (3D) analysis of the palatal morphology of patients with Apert syndrome and Crouzon syndrome. Four patients with Apert syndrome (average age, 11.0 ± 0.8 years) and five with Crouzon syndrome (average age, 10.1 ± 1.6 years) were investigated. The participants' maxillary dental casts were scanned and analyzed using 3D imaging. Palatal width, depth, cross-sectional area, and palatal angle (PW, PD, PCA, and PA, respectively) were measured, and standard scores were calculated based on sex- and age-matched Japanese standard values; the actual palatal surface areas (PSA) and palatal volumes (PV) were also measured. Our results show that patients with Apert syndrome and Crouzon syndrome had a very narrow PW (standard score: -3.79 and - 0.47, respectively). 3D analysis revealed that patients with Apert syndrome had a significantly shallower PD (standard score: -1.35) than those with Crouzon syndrome (standard score: 2.47), resulting in a smaller PCA (standard score: -5.13), PSA (5.49 cm2 ), and PV (1.11 cm3 ) and larger PA (standard score: -0.12) than those in patients with Crouzon syndrome. This might be due to the former having a narrower and shallower palate caused by the predominant swelling of the palatal mucosa. These findings improve our understanding of the differences in palatal morphology between Apert syndrome and Crouzon syndrome patients.

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

BACKGROUND: Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear. METHODS: Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software. RESULTS: Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001). CONCLUSIONS: Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma). CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Open-wedge osteotomy for thumb radial angulation in Apert syndrome using a bone-graft substitute.

A short thumb with radial angulation causes loss of hand function in patients with Apert syndrome. Although past reports have described various procedures for the correction of the thumb, there has been no consensus on the best procedure. This study aimed to assess the clinical and radiographic results of a surgical technique for the correction of a thumb radial angulation deformity: open-wedge osteotomy using a bone-graft substitute. Ten patients (18 thumbs) who underwent open-wedge osteotomy on the proximal phalange using a bone-graft substitute were evaluated retrospectively. The open-wedge osteotomies had been performed at the center of the proximal phalanx. Thumb radial angles and thumb lengths were measured on radiographs, and the clinical results were investigated, including bone union and complications. The median patient age at the time of surgery was 5.8 years, and the average follow-up period was 6.7 years. The average thumb radial angle was 57.3° preoperatively, 6.5° immediately postoperatively, and 19.8° at the most recent follow-up. The average thumb length was 12.1 mm preoperatively, 18.1 mm immediately postoperatively, and 22.3 mm at the most recent follow-up, indicating an extension effect of more than 50% immediately postoperatively. In all cases, the artificial bone had been absorbed and developed into autologous bone, and there were no complications such as infection and skin necrosis. These findings suggest that open-wedge osteotomy with an artificial bone substitute is simple and effective for treating radial-angulation deformities in patients with Apert syndrome. Level of evidence: Level IV - retrospective case series.

Dental agenesis patterns of permanent teeth in Apert syndrome.

Dental agenesis may either occur as an isolated trait (non-syndromic) or as a component in a congenital syndrome. The aim of the present study was to identify the prevalence of dental agenesis for each type of tooth and to look for dental agenesis patterns in persons with Apert syndrome. Serial panoramic radiographs of 23 individuals (five male patients and 18 female patients) were examined. Third molars were excluded. The prevalence of agenesis for at least one tooth was 34.8%. Up to two missing teeth were found for individuals with Apert syndrome. Maxillary lateral incisors and mandibular second premolars were the most frequently missing teeth. Four different dental agenesis patterns of the entire dentition were identified by using the tooth agenesis code (TAC). Two patterns occurred more frequently, both of which were symmetrical. One involved the simultaneous absence of teeth 12 and 22, and the other showed agenesis of teeth 35 and 45. In conclusion, patients with Apert syndrome were found to exhibit a high prevalence of dental agenesis. All dental agenesis patterns in which more than one tooth was missing were symmetrical.

Three-dimensional surgical guide for frontal-nasal-ethmoid-vomer disjunction in Le Fort III osteotomy.

The aim of this article was to describe the achievement and the clinical use of a new three-dimensional surgical guide for frontal-nasal-ethmoid-vomer osteotomy. The three-dimensional guide is based on a three-dimensional rapid prototyping model and provides the three-dimensional spatial orientation and depth for the frontonasal osteotome. The method was applied to a 7-year-old patient with Apert syndrome. This technique allowed a critical osteotomy path in Le Fort III surgery to be transferred in a secure, fast, and cost-effective way from the three-dimensional rapid prototyping model to the operating room.