Condylar Hypoplasia Research Articles

Femoral Component Malrotation Following Total Knee Arthroplasty in the Presence of Hypoplasia: Is the Orthopedic Surgeon Aware?

Background This study hypothesizes that patients with femoral condylar hypoplasia who undergo total knee arthroplasty (TKA) may experience femoral component malrotation and that the surgeon performing the operation may not notice it. The aim is to measure the rotational alignment of the femoral components and assess the functional outcomes in these patients. Materials and methods Between December 2018 and December 2022, a total of 96 knees from 80 patients were evaluated. The patients were divided into two groups: one with femoral condylar hypoplasia and one without. Rotational changes and functional outcomes were assessed and compared. Results The study included 24 patients, 12 in Group 1 and 12 in Group 2. The demographic characteristics of the patients were homogeneous. The duration of knee prostheses ranged from two to four years. Femoral condylar hypoplasia was detected in 15% of all patients. All patients with hypoplasia had femoral components in varying degrees of internal rotation. There was no significant difference in functional scores between the two groups. Conclusions The rotation of the femoral component in TKA using the posterior condylar axis is affected by deformities in the condyles. In patients with lateral condylar hypoplasia, using the standard method inevitably results in internal rotation of the femoral component.

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report

BackgroundAuriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients’ lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities.Case presentationHere, we report a rare case of ARCND in a Chinese family. A novel insertional mutation in the guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and their brother using whole-exome sequencing. After a multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery, including distraction osteogenesis and orthognathic surgery, were performed using three-dimensional (3D) digital technology to treat the patient’s dentofacial deformity. A good prognosis was achieved at the 5-year follow-up, and the patient returned to normal life.ConclusionsARCND is a monogenic and rare condition that can be diagnosed based on its clinical triad of core features. Molecular diagnosis plays a crucial role in the diagnosis of patients with inconspicuous clinical features. We present a novel insertion variation in GNAI3, which was identified in exon 2 of chromosome 110116384 in a Chinese family. Sequential therapy with preoperative orthodontic treatment combined with distraction osteogenesis and orthognathic surgery guided by 3D digital technology may be a practical and effective method for treating ARCND.

The role of occipital condyle and atlas anomalies on occipital cervical fusion outcomes in Chiari malformation type I with syringomyelia: a study from the Park-Reeves Syringomyelia Research Consortium.

Congenital anomalies of the atlanto-occipital articulation may be present in patients with Chiari malformation type I (CM-I). However, it is unclear how these anomalies affect the biomechanical stability of the craniovertebral junction (CVJ) and whether they are associated with an increased incidence of occipitocervical fusion (OCF) following posterior fossa decompression (PFD). The objective of this study was to determine the prevalence of condylar hypoplasia and atlas anomalies in children with CM-I and syringomyelia. The authors also investigated the predictive contribution of these anomalies to the occurrence of OCF following PFD (PFD+OCF). The authors analyzed the prevalence of condylar hypoplasia and atlas arch anomalies for patients in the Park-Reeves Syringomyelia Research Consortium database who underwent PFD+OCF. Condylar hypoplasia was defined by an atlanto-occipital joint axis angle (AOJAA) ≥ 130°. Atlas assimilation and arch anomalies were identified on presurgical radiographic imaging. This PFD+OCF cohort was compared with a control cohort of patients who underwent PFD alone. The control group was matched to the PFD+OCF cohort according to age, sex, and duration of symptoms at a 2:1 ratio. Clinical features and radiographic atlanto-occipital joint parameters were compared between 19 patients in the PFD+OCF cohort and 38 patients in the PFD-only cohort. Demographic data were not significantly different between cohorts (p > 0.05). The mean AOJAA was significantly higher in the PFD+OCF group than in the PFD group (144° ± 12° vs 127° ± 6°, p < 0.0001). In the PFD+OCF group, atlas assimilation and atlas arch anomalies were identified in 10 (53%) and 5 (26%) patients, respectively. These anomalies were absent (n = 0) in the PFD group (p < 0.001). Multivariate regression analysis identified the following 3 CVJ radiographic variables that were predictive of OCF occurrence after PFD: AOJAA ≥ 130° (p = 0.01), clivoaxial angle < 125° (p = 0.02), and occipital condyle-C2 sagittal vertical alignment (C-C2SVA) ≥ 5 mm (p = 0.01). A predictive model based on these 3 factors accurately predicted OCF following PFD (C-statistic 0.95). The authors' results indicate that the occipital condyle-atlas joint complex might affect the biomechanical integrity of the CVJ in children with CM-I and syringomyelia. They describe the role of the AOJAA metric as an independent predictive factor for occurrence of OCF following PFD. Preoperative identification of these skeletal abnormalities may be used to guide surgical planning and treatment of patients with complex CM-I and coexistent osseous pathology.

Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel PLCB4 Splicing Variant and 5-Year Follow-up.

Auriculocondylar syndrome (ARCND) is a set of rare craniofacial malformations characterized by variable micrognathia, ear malformations, and mandibular condyle hypoplasia, and other accompanying features with phenotypic complexity. ARCND2 caused by pathogenic variants in the PLCB4 gene is a very rare disease with less than 50 patients reported and only 36 different variants of the PLCB4 gene recorded in HGMD. This study aims to enrich the patient resources, clinical data and mutational spectrum of ARCND2. Case series study. Guangzhou Women and Children's Medical Center and Guangdong Women and Children Hospital. Two Chinese patients with ARCND2. Clinical, radiological and molecular findings. Both the two patients presented with craniofacial and ear malformations, and feeding difficulties. Whole exome sequencing identified two different variants of the PLCB4 gene in these two patients with a heterozygous allele and a de novo mode of inheritance respectively. Patient 1 carried a known pathogenic c.1861C > T(p.Arg621Cys) missense variant, whereas Patient 2 had a novel c.225 + 1G > A splicing variant. Sanger sequencing confirmed the presence of PLCB4 variants in the proband and absence in the unaffected parents. These two PLCB4 variants were suggested as disease-causing candidates for these two patients. During a 5-year follow-up, Patient 2 gradually manifested crowded teeth, underweight, motor delay and intellectual disability. In this study, we report two Chinese patients with ARCND2, describe their clinical and mutational features, and share a 5-year follow-up of one patient. Our study adds two additional patients to ARCND2, reveals a novel PLCB4 variant, and expands the phenotypic and genotypic spectrum.

A Case of Surgery for a Combination of Trismus due to Bilateral Hyperplasia of the Coronoid Process, and Micrognathia and Chin Asymmetry due to Bilateral Condylar Hypoplasia

A Case of Surgery for a Combination of Trismus due to Bilateral Hyperplasia of the Coronoid Process, and Micrognathia and Chin Asymmetry due to Bilateral Condylar Hypoplasia

Medial condyle hypoplasia in adolescent and young adult patients with trochlear dysplasia: a retrospective study.

To determine the association between medial femoral condyle hypoplasia and trochlear dysplasia by analyzing the knee magnetic resonance imaging scans of young patients with or without trochlear dysplasia. This was a retrospective analysis of magnetic resonance imaging scans of the knees of young individuals (16-35 years of age): 30 patients with trochlear dysplasia and 30 individuals with no signs of patellofemoral instability. The ratios between the depth, width, and height of the medial and lateral femoral condyles (dLC/dMC, wLC/wMC, and hLC/hMC, respectively) were calculated, as was the ratio between the width of the medial condyle and the total width of the femur (wMC/FW). All of the values were determined in consensus by two radiologists. We evaluated 60 patients: 30 with trochlear dysplasia and 30 without. The mean dLC/dMC, wLC/wMC, and hLC/hMC ratios were higher in the patients than in the controls (p < 0.05), whereas the mean wMC/FW ratio was lower in the patients (p < 0.05). The optimal cutoff values, obtained by calculating the areas under the receiver operating characteristic curves, were 1.0465 for the dLC/dMC ratio (76% sensitivity and 63.3% specificity), 0.958 for the wLC/wMC ratio (80% sensitivity and 73.3% specificity), and 1.080 for the hLC/hMC ratio (93.3% sensitivity and 93.3% specificity). Our findings confirm our hypothesis that trochlear dysplasia is associated with medial condyle hypoplasia.

Local injection of abaloparatide promotes mandibular condyle lengthening in adolescent rats via enhancing chondrogenesis and ossification.

Mandibular condylar hypoplasia negatively affects patient's facial appearance and dentofacial function. To investigate the effect of local injection of the drug abaloparatide (ABL), an analogue of parathyroid hormone related protein (PTHrP), on promoting lengthening of the mandibular condyle. Thirty adolescent male Sprague-Dawley rats were randomly divided into two groups, which received the injection of ABL or normal saline (the control) every 3 days in the temporomandibular joint (TMJ) cavity. Cone-beam computed tomography and immunohistochemistry assays were performed at 2, 4 and 6 weeks since the injection. Mandibular condylar chondrocytes (MCC) and pre-osteoblasts were treated with ABL or PBS, followed by the CCK-8 detection, IC50, real-time PCR assay, Western Blot and immunofluorescence staining. In vivo, compared with the control, the ABL group significantly increased the mandibular condylar process length (by 1.34 ± 0.59 mm at 6 weeks), the thickness of the cartilage layer, and enhanced the matrix synthesis. The ABL group had significant up-regulation of SOX 9, COL II, PTHrP and PTH1R, down-regulation of COL X in the cartilage, up-regulation of RUNX 2, and unchanged osteoclastogenesis in the subchondral bone. In vitro, the intra-TMJ injection of ABL promoted the MCC proliferation, with up-regulated expression of chondrogenic genes, and enhanced osteogenic differentiation of the pre-osteoblasts. Intra-TMJ injection of abaloparatide promotes mandibular condyle lengthening in the adolescent rats via enhancing chondrogenesis in the mandibular condylar cartilage and ossification in the subchondral bone.

Computed Tomographic Analysis of Position of Mandibular Canal and Mandibular Foramen in Patients with Mandibular Asymmetry.

Mandibular osteotomies in facial asymmetry are complicated by the abnormal position and course of inferior alveolar nerve. This manuscript aims to evaluate the possible variations in the preoperative positions of mandibular canal and mandibular foramen in patients with mandibular asymmetry due to condylar hyperplasia or condylar hypoplasia. This study included 15 patients with mandibular asymmetry due to condylar hyperplasia or condylar hypoplasia for which bilateral sagittal split osteotomy (BSSO) was performed as a corrective procedure. The presence/absence and extent of postoperative neurosensory deficiency was recorded subjectively and objectively. The measurements were done using multiplanar reconstruction (MPR) of three-dimensional radiographic imaging and were compared to normal subjects. The results revealed that the mandibular canal was closer to the buccal cortex on the affected side and the inferior border on both sides in the region of second molar in condylar hyperplasia. In condylar hypoplasia, the canal was nearer to the inferior border and the alveolar crest in relation to second and third molars respectively on the affected and contralateral sides.The mandibular foramen was also more superior to the occlusal plane on both sides in both condylar hyperplasia and hypoplasia. Based on the study outcomes, the authors propose that assessment of the positions of mandibular canal and mandibular foramen is crucial to avoid postoperative neurosensory deficiencies.

Gap Pattern in Valgus Knee: An Assessment with TKA Navigation

Background: Valgus knee is a challenge of ligament balance in total knee arthroplasty (TKA). A lateral release is often recommended to achieve symmetric extension gaps in valgus deformity, due to the traditional requirements of tight lateral gap. However, the gap pattern valgus osteoarthritis knee has not been studied. Materials and Methods: The present study was a retrospective study on navigated TKA with 89 valgus osteoarthritis knees. The gap measurement, bone cut, and component rotation values were collected from navigation and the data were analyzed. Results: Only 6.70% of valgus knees in the present series had a narrower lateral flexion gap than medial flexion gap and 7.90% had narrower lateral extension gap than medial extension gap. Conversely, most of valgus cases were seen in bigger lateral flexion gaps than medial flexion gaps at 76.4%. This was consistent with the extension gap patterns of 80.9%. The degree of valgus deformity positively correlated with all gaps, except for flexion lateral gap. The present study demonstrated a mean external rotation of 2.25±2.09° in the femoral component rotation and the degree of valgus deformity had no significant correlation with femoral rotation. Conclusion: The lateral distal femoral condyle hypoplasia might have more important role in the extension gap than the ligament tension. The lateral ligament might influence the lateral flexion gap more than the lateral femoral condyle deficiency. Lateral structural release for correction of valgus deformity during extension could lead to instability in flexion especially for gap patterns with a lateral flexion gap that is wider than the medial flexion gap. Keywords: Valgus knee; Navigated TKA; Gap pattern

Incidental findings involving the temporomandibular joint on computed tomography and magnetic resonance imaging.

The temporomandibular joint (TMJ) is frequently imaged in head and neck computed tomography (CT) and magnetic resonance imaging (MRI) studies. Depending on the indication for the study, an abnormality of the TMJ may be an incidental finding. These findings encompass both intra- and extra-articular disorders. They may also be related to local, regional or systemic conditions. Familiarity with these findings along with pertinent clinical information helps narrow the list of differential diagnoses. While definitive diagnosis may not be immediately apparent, a systematic approach contributes to improved discussions between clinicians and radiologists and better patient management.

Is lateral femoral condyle hypoplasia a feature of genu valgum? A morphological computed tomography study of 200 knees

BackgroundYoung surgeons are taught that genu valgum deformity is associated with hypoplasia of the lateral femoral condyle, despite the absence of supporting evidence. The objective of this study was to determine whether the lateral condyle was hypoplastic in genu valgum, by assessing the morphological features of the distal femur and their variations according to the severity of the coronal deformity. HypothesisThe lateral femoral condyle is not hypoplastic in genu valgum deformity. Material and methodsThe 200 included patients treated by unilateral total knee arthroplasty were divided into five groups based on their preoperative hip-knee-ankle (HKA) angle. The HKA angle, valgus cut angle (VCA), and anatomical lateral distal femoral angle (aLDFA) were measured on long-leg radiographs. Computed tomography images were then used to measure the medial and lateral anterior-posterior condylar lengths (mAPCL and lAPCL) and condylar thicknesses (mCT and lCT), distal femoral torsion (DFT), medial and lateral posterior condylar heights (mPCH and lPCH), and medial and lateral condylar volumes (mCV and lCV). ResultsNo significant differences were demonstrated across the five mechanical-axis groups for mAPCL, lAPCL, mCT, lCT, mPCH, or lPCH. The groups differed significantly regarding the VCA (p<0.0001), aLDFA (p<0.0001), DFT (p<0.0001), and mCV/lCV ratio (p<0.0001). VCA and aLDFA were smaller when the valgus exceeded 10°. DFT was similar in all varus knees (2.2°–2.6°) but significantly greater for knees with moderate (4.0°) or severe (6.2°) valgus. Finally, lCV was greater than mCV in valgus knees compared to varus knees. ConclusionThe presence of lateral condyle hypoplasia in knees with genu valgum seems open to question. Apparent hypoplasia noted during the standard physical examination may be chiefly ascribable to distal valgus of the femoral epiphysis in the coronal plane and, with the knee flexed, to distal epiphyseal torsion, whose severity increases with the degree of valgus deformity. These considerations should be taken into account when performing distal femoral cuts for TKA, to ensure the restoration of normal anatomy in patients with genu valgus. Level of evidenceIV.

A case report of temporomandibular joint tuberculosis in a neonate with eleven years follow-up.

Tuberculosis of the Temporomandibular joint (TMJ) in a neonate is a rare entity. Undiagnosed/mismanaged tuberculosis can disseminate and be life-threatening to the patient. The purpose is to present a case of tubercular osteomyelitis of TMJ in a neonate with eleven years of follow-up. A one-and-a-half-month-old male neonate presented with a firm swelling in front of the left ear for the past 20 days. Ultrasound presented an avascular, hypoechoic lesion of 34*25*25mm. Irregular margins of underlying bone could suggest erosion. Aspiration revealed pus. ZN staining of pus revealed Mycobacterium tuberculosis. After draining the pus, the patient underwent antitubercular therapy. He revisited at ten years of age with a complaint of asymmetry. Although the patient got cured of his tuberculosis, investigations rose to a diagnosis of condylar hypoplasia with ipsilateral coronoid enlargement. A distraction of the mandible improved facial symmetry. Although pus revealed the presence of Acid-fast bacilli, it is not evident until there is a significant bacterial load. Escalation of tests with higher sensitivity is needed to diagnose tubercular osteomyelitis of TMJ. Patients must be made aware of possible sequelae of tubercular osteomyelitis of TMJ and need appropriate management. Oblique osteotomy at the angle and distraction improves both horizontal and vertical components of the mandible and thus improves symmetry. To the best of the author's knowledge, the following is the first case of primary tuberculosis of TMJ in a neonate and with such an extended follow-up.

Kondiler Hipoplazi ile Birlikte Mandibular Koronoid Aplazi: Literatür Taraması ile Çok Nadir Bir Olgu

Mandibular coronoid aplasia is defined as the absence of the coronoid process and hypoplasia is defined as defective or underdeveloped coronoid process. Hypoplasia of the mandibular condyle means that the condyle is smaller than normal. Both of these situations are very rare in the literature. In the literature, condylar hypoplasia is usually associated with coronoid hyperplasia and is seen together. The case report we prepared is a case of unilateral coronoid aplasia with condylar hypoplasia, which is not associated with the syndrome, and is the second case in the literature in this way. In the clinical examination of a 38-year-old female patient, a decrease in the right vertical face height and a deviation to the right at the chin tip were observed. As a result of radiological evaluation, right coronoid process aplasia and right condyle hypoplasia were observed.

105. Clinical outcomes of C2 nerve root sacrifice and the feasibility of its preservation in patients with congenital atlantoaxial instability

<h3>BACKGROUND CONTEXT</h3> Posterior C1-C2 fusion is a widely used fixation technique for atlantoaxial dislocation (AAD). The C2 ganglion is a restricting factor to easy access of C1-C2 joints, and placement of C1 lateral mass screws. Both intentional C2 nerve root sectioning as well as its preservation have been described and are still debatable. The associated complications and outcomes have been less studied, particularly in congenital AAD. <h3>PURPOSE</h3> To study clinical outcome after C2 nerve root sectioning as well as the feasibility of its preservation in AAD patients. <h3>STUDY DESIGN/SETTING</h3> Retrospective study/ tertiary care center. <h3>PATIENT SAMPLE</h3> This study included 190 patients who underwent posterior C1-C2 fusion for congenital AAD. <h3>OUTCOME MEASURES</h3> C2 nerve-related dysfunction; feasibilty of nerve root preservation. <h3>METHODS</h3> This is a retrospective study of 190 patients who underwent posterior C1-C2 fusion for congenital AAD using C1 lateral mass screws. The decision to cut or preserve C2 nerve root was dependent on preoperative radiology and intraoperative suitability of its preservation. Patients were followed-up at periodic intervals and questioned about C2 nerve-related dysfunction. <h3>RESULTS</h3> Complex C1-C2 morphology with highly deformed joints was seen in 139 patients. In 178 patients, the C2 nerve root was sectioned. Postoperative numbness, paresthesia and dysesthesia were present in 30.3%, 21.9% and 19.1% patients respectively. However, the symptoms were bothersome in none. They neither required medications nor disturbed the daily activities of patients. Noticeably, 9 patients (5.1%) developed non-healing occipital ulcers; most needed surgical intervention in the form of a flap cover/skin graft. C2 nerve root preservation is feasible with robust inferior C1 lateral mass and normal sized ganglion. In patients with C1-occipital condyle hypoplasia, highly oblique joints, incurved occiput, pseudofacets and anomalous vertebral artery, its preservation is technically difficult. <h3>CONCLUSIONS</h3> Though C2 nerve root sectioning did not disable the quality of life in many, a subset of patients was prone for neuropathic ulcers. Hence, its preservation should be attempted whenever feasible. It may be possible to preserve it in less complex anomalies/favorable anatomy. <h3>FDA DEVICE/DRUG STATUS</h3> This abstract does not discuss or include any applicable devices or drugs.

Retrospective Evaluation of Incidental Findings of Temporomandibular Joint Region in CBCT Scans

The present study was undertaken to investigate the occurrence of incidental findings (IFs) in the temporomandibular joint region in cone-beam computed tomography (CBCT) scans. A total of 1,850 randomly selected scans were examined for IFs in the temporomandibular joint (TMJ) area. IFs of flattening of condyle, condylar hyperplasia, condylar hypoplasia, osteophyte, osteoarthritis, bifid condyle, subchondral pseudocyst, subchondral sclerosis, and soft tissue calcification were evaluated. Data analysis was done using SPSS version 21.0. A prevalence of 59.89% of IFs was noted in the present study. Flattening of the condyle was the most reported IF found in 369 (35.6%). Soft tissue calcifications were found in 294 (28.3%) and cysts in 143 (13.8%). When gender-wise distribution of TMJ IFs was evaluated, highly significant differences were noted between the gender for flattening of condyle, hyperplasia, and osteophytes at p <0.001. Dentists must critically evaluate CBCT images for evidence of IFs, so as to ensure comprehensive treatment package and early diagnosis of any disorders. CBCT in the recent times is widely used in dentistry for diagnostic purposes. It not only reveals a valuable diagnostic information of the intended site but also the region surrounding it. Findings obtained in the region beyond the intended site are described as IFs, which becomes important in determining an appropriate therapeutic plan. The study was conducted to evaluate the occurrence of IFs in the temporomandibular joint region.

Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report

BackgroundAuriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis of ACS carrying a novel GNAI3 variant.Case presentationA woman with 30 weeks of gestation was referred to genetic counseling for polyhydramnios and fetal craniofacial anomaly. Severe micrognathia and mandibular hypoplasia were identified on ultrasonography. The mandibular length was 2.4 cm, which was markedly smaller than the 95th percentile. The ears were low-set with no cleft or notching between the lobe and helix. The face was round with prominent cheeks. Whole-exome sequencing identified a novel de novo missense variant of c.140G > A in the GNAI3 gene. This mutation caused an amino acid substitution of p.Ser47Asn in the highly conserved G1 motif, which was predicted to impair the guanine nucleotide-binding function. All ACS cases with GNAI3 mutations were literature reviewed, revealing female-dominated severe cases and right-side-prone deformities.ConclusionSevere micrognathia and mandibular hypoplasia accompanied by polyhydramnios are prenatal indicators of ACS. We expanded the mutation spectrum of GNAI3 and summarized clinical features to promote awareness of ACS.

Coronoid hypoplasia with developmental anomaly: A rare clinical-radiographic finding

A unique case of unilateral coronoid and condylar hypoplasia in 11 year old male patient who presented with progressive facial asymmetry is reported here. It is very rare developmental anomaly, usually condylar hypoplasia is found with coronoid hyperplasia. The patient reported here with complain of facial asymmetry. Clinical examination, conventional radiographs, and three dimensional computed tomography images revealed hypoplasia of both coronoid process and condyle on left side. Early diagnosis by correlating clinical and imaging features is paramount in the management of such patients.

Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome.

The purpose of this study was to investigate the phenotypes and treatment modalities (Tx-Mod) in patients with Treacher-Collins syndrome (TCS) using a TCS severity index (TSI). The sample consisted of 14 Korean TCS patients treated at the Department of Orthodontics, Seoul National University Dental Hospital during 1998 to 2019. The TSI was calculated by adding the scores from the number of deformity-involved midface structures (eye, ear, zygoma) and the degree of mandibular hypoplasia (Pruzansky-Kaban type, gonial angle, Sella-Nasion-B point angle). The deformity-involved midface structure, degree of mandibular hypoplasia, oral manifestations, dental phenotypes, and Tx-Mod types were investigated using descriptive statistics. The TSI classified the subjects into 2 mild, 6 moderate, and 6 severe cases. The severity of ear and zygoma deformities, degree of condylar hypoplasia (Pruzansky-Kaban type), clockwise-rotated morphology (gonial angle) and retrusive position (Sella-Nasion-B point angle) of the mandible, and frequency of oral/craniofacial cleft, openbite, congenitally missing tooth and impacted tooth showed a tendency of increase from mild to severe TCS cases. After growth observation (78.6%), diverse combinations of Tx-Mods were applied except for functional appliance therapy. Surgical procedures for eye, ear, and zygoma reconstruction were performed on all patients (100%), whereas fixed orthodontic treatment, mandibular distraction osteogenesis, and orthognathic surgery were performed on 50% of patients. Surgical procedure for hearing improvement was the most frequent Tx-Mod (78.6%). The main desires of TCS patients were to obtain the facial esthetics in the midface and to improve hearing function. The TSI might provide a primary data for individualized diagnosis and treatment planning.

Treacher collins syndrome

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. TCS affects structures which are derivatives of the first and second brachial arches which was also observed in this patient presenting with antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible, and an ear abnormality. This article describes clinical features of TCS in a 21-years-old boy. Keywords: Condylar hypoplasia, Hypoplastic maxilla, Hypoplastic zygoma, Treacher Collins syndrome.

The Evaluation of Trochlear Osseous Morphology: An Epidemiologic Study.

Background:The femoral trochlea is considered the most significant osseous factor affecting stability in the patellofemoral joint. The true prevalence of trochlear dysplasia in the general population is largely unknown.Purpose/Hypothesis:To investigate the prevalence of trochlear dysplasia in the general population. Our hypothesis was that, while trochlear dysplasia is not uncommon, there is a low prevalence of severe dysplasia in the general population.Study Design:Descriptive epidemiology study.Methods:Five observers were asked to evaluate 692 skeletally mature femoral specimens from 359 skeletons for trochlear dysplasia at 2 time points. We further subclassified the dysplastic trochlea in 62 femora with the highest rated degree of dysplasia.Results:Sex (P = .11) and race (P = .2) had no effect on the severity of dysplasia. Interobserver reliability was excellent (0.906 and 0.904), and intraobserver reliability was good to excellent (0.686 to 0.808). The percentages of trochlea graded as normal, mildly dysplastic, moderately dysplastic, and severely dysplastic were 61.5%, 21.4%, 12.7%, and 4.4%, respectively, in the first evaluation, and 58.5%, 23.7%, 12.7%, and 5.1% in the second evaluation. Of the 62 trochlea with the highest scores for dysplasia, 36 had trochlear dysplasia without a supratrochlear spur, 8 had trochlear dysplasia with medial femoral condyle hypoplasia, and 18 had trochlear dysplasia with a supratrochlear spur.Conclusion:Observers with differing degrees of clinical experience had similar opinions on the degree of trochlear dysplasia. Also, our cohort showed that moderate to severe dysplasia is not uncommon, as it is present in approximately 17% of knees in our cohort. Our findings also suggest that clinicians are speaking the same language when identifying and describing trochlear dysplasia on gross inspection.