Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.

OBJECTIVE: Primary failure of eruption is characterized by a nonsyndromic defect in tooth eruption in the absence of mechanical obstruction. It is correlated to rare heterozygous variants in the parathyroid hormone receptor 1 gene. The management of primary failure of eruption is complex because many therapies are ineffective. The present study aimed to compare the clinical outcomes of our patients with the findings reported in the literature, and to propose a treatment guideline based on the literature and our experience. METHODS: Retrospective study of patients affected by primary dental eruption failure in the department and analyse of the results and compare with those of the litterature. RESULTS: Twelve patients belonging to 5 families (9 males, 3 females; 13-52 y old) diagnosed and treated in the maxillofacial surgery and stomatology department of the Lille University Hospital were included. All patients showed posterior tooth involvement, and most patients showed bilateral defects. None of the affected teeth had coronal alveolar bone, whereas 6 patients showed root resorption in the affected teeth. Genetic analyses, performed on 11 patients, identified a parathyroid hormone receptor 1 disease-causing variant in 7 of them (63%). Multidisciplinary treatment was required to rehabilitate these patients. Orthodontic interventions, even at an early age, are difficult in affected teeth, which are often blocked or have internal resorption. Moreover, retention of these affected teeth during growth leads to dentoskeletal malocclusions, requiring difficult surgical management in the long term. Therefore, early extraction of these teeth is frequently recommended once the diagnosis has been confirmed. An implant-borne prosthetic rehabilitation can then be achieved at the end of growth after correction of the jaw discrepancy. In case of a late diagnosis, other surgical or noninvasive techniques may be used depending on the clinical situation. Distraction osteogenesis or segmental osteotomy could be discussed for patients with mild phenotypes. CONCLUSIONS: Early diagnosis of primary eruption defects is crucial to offer appropriate management as early as possible, and so to avoid late complicated treatments.

ACTN3 genotype influences masseter muscle characteristics and self-reported bruxism.

OBJECTIVES: Main aim of the study was to explore the association between genetic polymorphisms in ACTN3 and bruxism. Secondary objectives included masseter muscle phenotypes assessment between bruxers and non-bruxers and according to genetic polymorphisms in ACTN3. MATERIALS AND METHODS: Fifty-four patients undergoing orthognathic surgery for correction of their malocclusion were enrolled. Self-reported bruxism and temporomandibular disorders status were preoperatively recorded. Saliva samples were used for ACTN3 genotyping. Masseter muscle samples were collected bilaterally at the time of orthognathic surgery to explore the muscle fiber characteristics. RESULTS: There were significant differences in genotypes for rs1815739 (R577X nonsense) (p = 0.001), rs1671064 (Q523R missense) (p = 0.005), and rs678397 (intronic variant) (p = 0.001) between bruxers and non-bruxers. Patients with self-reported bruxism presented a larger mean fiber area for types IIA (p = 0.035). The mean fiber areas in individuals with the wild-type CC genotype for rs1815739 (R577X) were significantly larger for type IIA fibers (1394.33 µm2 [572.77 µm2 ]) than in those with the TC and TT genotypes (832.61 µm2 [602.43 µm2 ] and 526.58 µm2 [432.21 µm2 ] [p = 0.014]). Similar results for Q523R missense and intronic variants. CONCLUSIONS: ACTN3 genotypes influence self-reported bruxism in patients with dentofacial deformity through specific masseter muscle fiber characteristics.

Impact of Mandibular Symphyseal Distraction Osteogenesis (MSDO) on the Sagittal Dimension and Long-Term Skeletal stability.

OBJECTIVE: To evaluate the long-term effects of mandibular symphyseal distraction osteogenesis (MSDO) on the correction of class II malocclusion correction and dental crowding. MATERIALS AND METHODS: Twenty-two patients received MSDO and presented class II malocclusion with transverse mandibular discrepancy. The authors collected data on 2 different cephalometric analyses. On Tweed analysis, The authors recorded ANB, SNA, SNB, and FMA angles. On Delaire analysis, we recorded the distance from Pti (pterygoid inferior) to ENAt (anterior nasal spine) and the distance from Cos (superior condyle) to Pog (pogonion). Superimpositions studies were performed at pre-treatment phase (T1) and post-treatment phase (T2) to evaluate the new position and changes in the dimensions of the mandible and maxilla. RESULTS: On superimposition of Tweed analysis of T1 and T2, reduction of ANB was seen in 18 patients, no change in ANB in 2 patients, and increase in ANB (by 1 deg) in 2 patients. Superimposition of Delaire analysis showed a mean difference of 0.3 mm (SD, 3.6 mm) between T1 and T2 for the maxilla and a mean difference of 6.0 mm (SD, 7.3 mm) for the mandible. CONCLUSIONS: Mandibular symphyseal distraction osteogenesis performed after the pubertal growth peak can effectively correct class II malocclusion and dental crowding with a single light surgical procedure.

Simultaneous Mandibular Anterior Segmental Osteotomy and Genioplasty: A Novel Technique.

The current standard approach to treat class II malocclusion is orthodontic preparation followed by a mandibular advancement through bilateral sagittal split osteotomy associated or not with a genioplasty. However, when a malocclusion with an important incisors' axis deviation is associated with a chin malposition, an alternative technique can be considered: simultaneous mandibular anterior segmental osteotomy and genioplasty. This technique is performed without a bony bridge between osteotomies. Care must be taken not to wound the lingual mucosa. If preserved, this technique is safe. The result is stable and predictable.

Three-dimensional Assessment of Autologous Calvarial Bone Grafting for Alveolar Clefts Reconstruction in Pediatric Population: A Retrospective Study.

Reconstruction of alveolar clefts using cancellous bone graft is associated with a high rate of resorption. The aim of this study was to evaluate the osseointegration capacity of cortical calvarial bone grafting using 3-dimensional imaging assessment for alveolar cleft reconstruction in pediatric population.All alveolar bone grafting procedures performed between January 2015 and October 2017 in the maxillofacial surgery department of Lille University Hospital were included. All patients were evaluated clinically and by 3-dimensional imaging before bone grafting and at 3 months after surgery. Cleft and bone graft volumes were assessed using Horos software, v. 3.3.5, through a segmentation process. The bone filled ratio at 3 months after surgery was calculated. A total of 48 alveolar bone grafting procedures were performed in 37 patients: 3 unilateral cleft lip and alveolar, 20 unilateral cleft lip and palate, and 25 bilateral full cleft lip and palate (3 patients had only unilateral surgery). The mean bone filled ratio was 72.27%±23.65%, 81% for unilateral cleft lip and alveolus, 75.4%±20.6 for unilateral cleft lip and palate, and 65.5%±30 for bilateral complete cleft lip and palate ( P =0.1981). Calvarial bone grafting seems to be a relevant alternative to other donor sites for alveolar cleft reconstruction.

Surgical Treatment for Patients With Binder Syndrome, Clinical Features and Associated Symptoms: A Systematic Review.

BACKGROUND: Binder syndrome is a rare congenital malformation of the midface. Since 1990, no systematic review has been conducted on this condition. Our study aims to review and collect the surgical treatment options available for correcting nasomaxillary dysplasia and the information available in the international literature on Binder syndrome and associated symptoms. METHODS: This systematic literature review was registered in the PROSPERO (International Prospective Register of Systematic Reviews) database. Systematic literature searches were performed in Medline, Scopus, the Cochrane Library, and Web of Science databases. Study quality assessment was performed according to recommendations from the Cochrane Handbook for Systematic Reviews of Diagnostic Test Accuracy. RESULTS: The authors identified 200 articles from our database research. One hundred sixty-nine articles were excluded after the title and abstract screening. Seven articles were excluded after screening the full text. In total, 24 clinical studies were included: 14 studies aim to describe a surgical option and 10 articles treat information about Binder syndrome or associated features. Most of the studies (12/14 studies) performed rhinoplasties to treat nasomaxillary dysplasia. The 2 other articles evaluated maxillary osteotomy techniques. Only 3 articles compared the results obtained from different surgical techniques. CONCLUSIONS: No optimal surgical treatment plan has been developed, even if numerous surgical options are available. Etiology is still uncertain.

Quality of Life After Total Temporomandibular Joint Prothesis Surgery.

INTRODUCTION: Total temporomandibular joint (TMJ) prostheses are increasingly used in patients with joint destruction presenting significant pain and mouth opening limitation. This surgery can be considered as the last resort solution whose goal is to restore the mandible function. The aim of this study was to evaluate the patient quality of life (QoL) before and after TMJ replacement surgery with a total TMJ prosthesis, using a modified QoL scale. MATERIALS AND METHODS: All patients with a total uni or bilateral TMJ prosthesis who could be contacted were included. All patients completed 2 retrospective questionnaires: once relative to the preoperative QoL and another for the post-operative QoL, including the assessment of mouth opening limitation, daily eating difficulties and also a QoL score, adapted from the TMJ-QoL questionnaire. RESULTS: A total of 17 patients were included: 13 temporomandibular ankylosis, 3 condylar resorptions and 1 congenital malformation. Mouth opening limitation and daily eating difficulties were significantly reduced after surgery ( P < 0.001). Nine of the 11 QoL questions showed a significant decrease in score and thus an improvement of the QoL after surgery: having a conversation ( P = 0.006), eating ( P < 0.001), yawning ( P < 0.001), sleeping ( P = 0.043), recreational activities ( P = 0.005), relaxing ( P = 0.021), feeling depressed because of TMJ problems ( P = 0.032), daily activities ( P = 0.008) and patient self-assessment of QoL ( P = 0.003). Two showed no significant difference: taking analgesics, and social life. Total score of QoL showed a significant improvement ( P = 0.003). CONCLUSIONS: Quality of life, mouth opening, and daily eating were significantly improved after total TMJ prosthesis, in agreement with the litterature. The TMJ prosthesis could be considered ealier in the management of end-stage temporomandibular disease.

Characterization of Infraorbital Nerve Sequelae After Orbital Floor or Zygomaticomaxillary Complex Fractures.

INTRODUCTION: Neurological sequelae of infraorbital nerve (ION) lesion 6 months after orbital floor or zygomaticomaxillary complex (ZMC) fractures, associated with initial ION injury, were compared according to the treatment performed and the type of fracture. The topographic and symptomatic sequelae at 6 months were described. MATERIALS AND METHODS: Patients with orbital floor or ZMC fracture associated with initial ION injury, between November 2018 and April 2020 and clinically reassessed 6 months after trauma were included. Detailed neurological symptomatology was assessed by a questionnaire. RESULTS: A total of 81 patients were included. Forty-two patients (51.8%) showed persistent neurological signs, i.e., isolated hypoesthesia in 28 patients (66.7%), isolated pain in 10 patients (23.8%) and both in 5 patients (9.5%). The most affected area was the cheek (42.8%). Thirty-eight patients (46.9%) presented associated signs, which were intermittent in 78.9% of cases. A pronounced improvement happened for 65.1% of patients and 76.7% were not or only slightly hindered in their daily activities. There were significantly more neurologic symptoms at 6 months in the surgical group than in the observational group and more in the ZMC fracture group than in the orbital floor fracture group. DISCUSSION: Neurological symptomatology was more frequent in patients treated surgically. Our results suggest the interest of a surgical decompression when orbital or ZMC fracture is associated with nerve damage but more data are needed. Neurological injury requires a careful initial clinical evaluation and regular follow-up to help patients coping, painful symptoms may benefit from specialized care.

Three-dimensional printing models improve long-term retention in medical education of pathoanatomy: A randomized controlled study.

Craniosynostosis is a rare and complex pathology, and visuospatial skills are necessary for a good understanding of the condition. While the use of three-dimensional (3D) models has improved the understanding of complex craniofacial anatomy, no study has evaluated the impact of this teaching support on long-term retention. Our randomized controlled trial was designed to compare the long-term retention of information with 3D-printed models of four types of craniosynostosis versus classic 3D reconstructions displayed in two-dimensional (2D) among undergraduate students. All students benefited from the same standardized course followed by the manipulation of the learning tool associated with the group for 15 min. Long-term retention was assessed by the capability to properly recognize different types of craniosynostosis 3 weeks after the course. Eighty-five students were enrolled. Previous educational achievements and baseline visuospatial skills were similar between the groups. The bivariate analysis showed the mean score in the 3D and 2D groups were 11.32 (2.89) and 8.08 (2.81), respectively (p < 0.0001). 3D-printed models of structures with spatial complexity such as various craniosynostosis patterns improve significantly medical students' long-term retention, indicating their educational efficacy.

3D printing for orbital volume anatomical measurement.

PURPOSE: The aim was to develop a method for reproducible orbital volume (OV) measurement in vivo based on 3D printing. METHODS: Twelve orbits were obtained from dry skulls of the Human Anatomy Department of Lille University. Computer tomography (CT) slice images of these orbits were transformed into stereo-lithography (STL) format and 3D-printed. Bone openings were closed using either putty and cellophane after printing (3D-Orb-1) or at the printing stage in silico using MeshMixer (3D-Orb-2). The results were compared with those of the conventional water-filling method as a control group (Anat-Orb). RESULTS: The observers reported a mean orbital volume of 21.3 ± 2.1 cm3 for the open-skull method, 21.2 ± 2.4 cm3 for the non-sealed 3D-printing method, and 22.2 ± 2.0 cm3 for the closed-print method. Furthermore, the intraclass correlation coefficients (ICCs) showed excellent intra-rater agreement, i.e., an ICC of 0.994 for the first observer and 0.998 for the second, and excellent interobserver agreement (ICC: 0.969). The control and 3D-Orb-1 groups show excellent agreement (ICC: 0.972). The 3D-Orb-2 exhibits moderate agreement (ICC: 0.855) with the control and appears to overestimate orbital volume slightly. CONCLUSION: Our 3D-printing method provides a standardized and reproducible method for the measurement of orbital volume.

Impaired Callus Formation in Pathological Mandibular Fractures in Medication-Related Osteonecrosis of the Jaw and Osteoradionecrosis.

PURPOSE: Nonsurgical treatment of mandibular fractures secondary to medication-related osteonecrosis of the jaw (MRONJ) or osteoradionecrosis (ORN) mostly results in nonunion, whereas nonsurgical fracture treatment of atrophic fractures can achieve favorable results in selected cases. The aim of this study was to compare callus formation in pathological mandibular fractures due to MRONJ, ORN, or extreme mandibular atrophy. METHODS: A retrospective cohort study reviewing the medical records of all MRONJ-, ORN-, or atrophy-related fractures treated at the departments of maxillofacial surgery in the Leuven or Lille university hospitals between 2010 and 2019 was undertaken. The primary predictor variable in this study was disease state (MRONJ, ORN, or extreme mandibular atrophy). The primary outcome variable was callus formation after 1 month of follow-up (present, absent). Additional study variables measured included patient age and gender. T-tests, Fisher exact tests, and multiple logistic regression were used for statistical analysis. The significance level was set at P < .05. RESULTS: Seventy patients were analyzed (12 MRONJ cases, 54 ORN fractures, 4 atrophic fractures). The callus formation prevalence in nonsurgically approached fractures secondary to ORN and MRONJ after 1 month of follow-up was 3.03% (2/66 cases). In contrast, callus was detected in all patients in the mandibular atrophy-related fracture group. Osteonecrosis was statistically correlated with impaired callus formation (P = .0121). CONCLUSION: Whereas one would expect indirect fracture healing and thus callus formation to occur in all non-surgically treated fractures, our data demonstrate its absence in the majority of MRONJ- and ORN-related fractures. Multiple plausible explanations for this phenomenon were identified: periosteal damage with loss of callus-forming cells, compromised vasculature, and bacterial colonization.

Augmentation Genioplasty Using a Third Molar as a Bone Graft: An Alternative Surgical Technique.

PURPOSE: Augmentation genioplasty corrects vertical chin deficiency. To stabilize the synthesis and to allow ossification, a biomaterial prop is necessary. Third molars are frequently removed during orthognathic surgery and provides good material used as autogenous grafts. SURGICAL TECHNIQUE: This article describes the surgical technique of an augmentation genioplasty using a third molar as a prop biomaterial. Results are stable in time. This technique presents no risk of infection and is less invasive than other autogenous bone graft. CONCLUSIONS: third molar can be used as a prop biomaterial in augmentation genioplasty.

Orthognathic Surgery in Craniosynostosis.

INTRODUCTION: Craniosynostosis is characterized by the fusion of 1 or more sutures of the skull leading to craniofacial deformations. Our aim is to describe the dental malocclusion associated with craniosynostosis, syndromic, or nonsyndromic, and also the treatment used and its stability. MATERIAL AND METHODS: This retrospective study included all patients who presented at our Department for facial growth monitoring and occlusal management following syndromic and nonsyndromic craniosynostosis. Inclusion began in January 1996 and ended in December 2015 to ensure sufficient follow-up. Orthognathic surgery was performed after the end of growth. Dental occlusion was evaluated clinically and radiographically. RESULTS: Fifty-five patients were included with 18 syndromic cases. The majority of patients presented with class III malocclusion (69.1%), especially syndromic cases (94.7%) and brachycephalies (96.3%). Conversely, scaphocephalies are associated with class II malocclusions. Thirty-nine patients underwent orthodontic treatment associated with orthognathic surgery to correct their malocclusion. In 4 cases, optimal dental occlusion was achieved with orthodontic treatment alone. Forty patients achieved stable optimal final dental occlusion. Optimal dental occlusion was achieved in 76.9% of the nonsurgically treated craniosynostosis patients and 68.9% of the surgically treated craniosynostosis patients. DISCUSSION: Sutural fusion induces a facial growth restrictions and dental malocclusions. Several mechanisms may be responsible for these malocclusions: positional anomaly of the jaws due to the cranial deformity, associated anomaly of the facial sutures, or osteocartilagenous system diseases. Early craniosynostosis management does not avoid the occurrence of malocclusion, which will require orthodontic treatment and orthognathic surgery for their management.

Temporomandibular Joint Dysplasia in Cranio-Maxillofacial Dysplasia: A Retrospective Study. Guideline Treatment Proposal.

INTRODUCTION: Cranio-Maxillofacial Dysplasias (CMD), including Craniofacial Microsomias, syndromes (such as Treacher Collins or Williams) and isolated Condylo-Mandibulo-Dysplasia, is a controversial subject with treatments as diverse as diagnostic classifications. The authors present here a retrospective study of 85 patients, with congenital condyle dysplasia arising from these 3 main types of CMD, treated with different techniques that aimed to normalize the facial skeleton and occlusion. METHODS: The authors studied retrospectively 85 patients, aged from 3 to 53 years old, affected by different types of CMD. Treatment options included: costochondral grafts, orthognathic surgeries, distraction osteogenesis procedures, orthodontic and dentofacial orthopedic treatments, and soft tissues surgeries. Outcomes were evaluated by the surgical team. RESULTS: Seventeen patients were treated with costochondral grafting, 14 with distraction osteogenesis, 17 with orthodontic and dentofacial orthopedic, and 45 with orthognathic surgery. The authors did not perform any nerve grafting or temporomandibular joints prosthesis placement. Fifty-one patients presented an excellent result, 10 a good result, 9 a poor result, 2 a bad result, and 14 an unknown result. DISCUSSION: Several different treatments of CMD can be proposed. The authors think that major defect in children should undergo costochondral grafting because of its growth potential while in case of minor defect, orthopedic treatment should be tried in the first place. Distraction osteogenesis should be reserved for cases with poor response after orthopedic treatment or growth insufficiency with costochondral grafting. Orthognathic surgery is often necessary at the end of the growth period to obtain an excellent result. Temporomandibular joints prosthesis should be reserved for extreme cases.

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.

ABSTRACT: Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal osseous dysplasia with pigmentary defects. The authors describe cases of a young girl with Melnick-Needles syndrome and a young boy with frontometaphyseal dysplasia treated in the Oral and Maxillofacial Surgery Department. Both patients had FLNA gene mutation confirmed with molecular genetic analysis. The authors proposed a 4 step treatment of the malformations with good outcomes both aesthetically and functionally, without complication.

Secondary Care of Cleft Lip and Palate: Analysis of Dentofacial Orthopedic and Orthognathic Treatments.

INTRODUCTION: Orthodontic and orthognathic management of cleft lip and/or palate (CLP) is a highly controversial subject. We present herein a retrospective study of 214 secondary cases followed over 22 years in order to assess the factors of successful management. MATERIAL AND METHODS: The study focuses on the results of gingivoperiosteoplasty, and occlusal stability. Nine subgroups were identified, taking into account the age of the patients, the history of surgery on the alveolar region, and the presence or absence of skeletal discrepancy. RESULTS: Results clearly demonstrate a higher rate of poor outcomes and failures in the multioperated population. The success rate of the graft is 80.82% in the multioperated population versus 100% non-multioperated population. Periodontitis problem or orthodontic difficulties affect 19.17% of the patient in the multioperated groups versus 12% in the other groups. Relapse, particularly the transversal dimension, is also found mostly in the multi-operated population: 17.8% versus 6% in the non-multioperated population. DISCUSSION: Several factors are involved in the success of orthodontics, dentofacial orthopedics, and orthognathic surgery of CLP patients. Our study shows that previous surgeries, especially when they are multiple with repeated failures, jeopardize the chances of success of secondary treatments. This is explained by the secondary fibrosis of the tissues around the cleft. Finally, major palatal surgeries performed early, have adverse effects on maxillary growth. Many other factors play an important role in the stability of the success that are linked with orofacial functions. These data must be taken into account in the treatment of CLP patients.

Lateral Pterygoid Muscle Biometric Modifications in Pterygoid Process Fractures Associated With Mandibular Fractures.

PURPOSE: Pterygoid process fractures (PPFs) are classically associated with Lefort fractures but can also be encountered in association with other facial fractures such as mandibular fractures. The aim of this study was to estimate the frequency of PPFs associated with mandibular fractures and identify factors associated with PPF. MATERIALS AND METHODS: We conducted a retrospective cross-sectional study using computed tomography scanning of patients having a mandibular fracture between November 2018 and April 2020. PPFs were classified using the classification by An et al. Volume, length, and width of both lateral pterygoid muscles have been evaluated by using an image processing software. Study population has been divided into 2 groups: fracture of pterygoid process or the absence of PPF. To evaluate the implication of lateral pterygoid muscle in the pathophysiology of PPF, we compared lateral pterygoid muscle volume, its maximal length, and width between both groups. Patients with bilateral fractures were excluded from this analysis. RESULTS: About 304 patients with at least 1 mandibular fracture have been included in this study. About 18 patients presenting an association of mandibular fracture and PPF were finally selected. About 83.33% of the patients were concerned by a fracture of the posterior part of the mandible. The PPF was classified as type IIA by the classification of An et al for 94.4% of patients. The lateral pterygoid muscle volumes were significantly larger on the side of the PPF (P = .02). However, there were no significant differences in the maximum length (P = .49) and width (P = .1) of lateral pterygoid muscle. CONCLUSIONS: Our study showed an association between mandibular fractures (mainly ipsilateral posterior) and isolated PPF through a lateral pterygoid muscle volume increase.

Prediction of Post-Traumatic Enophthalmos Based on Orbital Volume Measurements: A Systematic Review.

PURPOSE: Enophthalmos greater than 2 mm should be considered clinically relevant and can be responsible for esthetic and functional morbidity. The difficulty has always been the best method to use to accurately determine when the orbital wall displacement will lead to clinically relevant enophthalmos. None of the currently used techniques is able to accurately predict for post-traumatic enophthalmos (PE). The aim of the present study was to systematically review the use of orbital volumetric tools in the prediction of PE after orbital fracture. MATERIALS AND METHODS: The terms searched in each database were "(orbital volumetry) and enophthalmos," "volumetry and enophthalmos," "volume and enophthalmos," and "volumetric and enophthalmos." The relationship between PE and the orbital volume (OV) was assessed. RESULTS: The initial search yielded 346 results. Of the 346 studies, 14 were included and analyzed. Every study reported a different numerical relationship between the OV and PE, with a mean enophthalmos of 0.80 mm after a 1-cm3 increase in the OV. CONCLUSIONS: The present review found that most studies concluded that a direct relationship exists between the OV and PE and defined the degree of PE in relation to the OV expansion. Enophthalmos assessment using radiologic evaluation provides increased accuracy and reproducibility compared with clinical measurement using an exophthalmometer. It has been notoriously difficult to determine when orbital wall displacement will lead to clinically relevant enophthalmos. Measurement of the OV could have a role in the decision for surgical or conservative treatment.

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

One of the most common causes of short stature is a defect of the short stature homeobox-containing (SHOX) gene, which is located in pseudoautosomal region 1 on the distal end of the short arm of chromosomes Xp22.33 and Yp11.32. More than 300 different mutations in the SHOX gene responsible for short stature syndrome have been described. The phenotypic expression of SHOX haploinsufficiency is remarkably varied. The 3 typical clinical presentations, from least to most severe, are idiopathic short stature without skeletal malformations, Leri-Weill dyschondrosteosis (LWD), and Langer mesomelic dysplasia, which is believed to represent the homozygous form of LWD. Despite a higher prevalence in women, suggesting the potentiating action of high estrogen levels on the effects of SHOX deficiency, the syndrome was initially believed to have an autosomal pattern of inheritance. In reality, heterozygous SHOX mutations can be transferred from the Y to the X chromosome and vice versa. This phenomenon is called "the jumping SHOX gene" and corresponds to a pseudoautosomal dominant inheritance. LWD is characterized by mesomelic short stature and Madelung deformity defined by an upward and medial displacement of the radial joint surface, which restricts range of motion. Less specific dysmorphic signs associated with LWD, such as short hands and feet, scoliosis, or muscular hypertrophy, have been described. When reviewing the dental and maxillofacial signs, only limited and summary data (micrognathia and high arched palate) have been published in the literature. This report presents a case of LWD that highlights many other noteworthy dental and maxillofacial signs that are important to clearly identify and appropriately treat.

Fetal dental panorama on three-dimensional ultrasound imaging of cleft lip and palate and other facial anomalies.

OBJECTIVES: Craniofacial deformities have a high psychosocial impact. The aim of this paper is to improve obstetric ultrasonography and prenatal detection of facial anomalies by providing a new fetal dental panorama. MATERIAL AND METHODS: The present study describes a new modality to visualize the fetal tooth germs and an easy step-by-step diagnostic approach. Image acquisition was performed between 23 and 32 weeks of gestation using a Voluson E10 GE ultrasound machine with an RM6C transducer (GE Medical Systems, Zipf, Austria). Reconstruction was performed using Omniview from the axial image. Volume contrast imaging (VCI) was used with a thickness of 20 mm, and a render mode that combined "Rx mode" and "surface texture." RESULTS: The resulting imaging allows a more precise visualization of the fetal dental arch and can be obtained between 14 and 28 weeks of gestation. The presence of dental anomalies can be a clue for the diagnosis of various congenital defects, in particular conditions with a shortage of other physical abnormalities, such as ectodermal dysplasia and Binder syndrome. CONCLUSIONS: The creation of a precise fetal dental panorama allows an improved detection of facial deformities. CLINICAL RELEVANCE: With the current paper, we want to increase prenatal diagnostics facial anomalies, and help to establish a tailored multidisciplinary treatment plan. This paper should be of interest to readers who are currently treating patients with craniofacial malformations and readers who are performing diagnostic prenatal sonography.