OBJECTIVES

To present a rare case of a 17-year-old girl with multiple odontogenic keratocysts, skeletal abnormalities, central nervous system and cutaneous anomalies.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 17-year-old Filipino girl presented with a one-year history of progressive left mandibular swelling. Orthopantomography revealed multiple cysts involving the mandible and maxillae. Histopathologic examination of incision biopsy specimens confirmed odontogenic keratocysts. Other physical examination findings included coarse face and multiple palmar and plantar pits. Radiologic investigations demonstrated calcification of the falx cerebri and tentorium cerebelli, bifid rib and cervicothoracic scoliosis. Based on clinical, radiological, and histopathological findings, a diagnosis of Gorlin-Goltz syndrome was established. The patient underwent enucleation and curettage of the cysts with peripheral ostectomy, and there was no recurrence on repeat orthopantomography at six months and two years post-operatively. However, on the fourth year, the patient claimed there was a mandibular cyst which was not verified as she was lost to follow-up.

CONCLUSION

This case highlights the importance of recognizing multiple odontogenic keratocysts as a potential manifestation of Gorlin-Goltz Syndrome. Early diagnosis enables appropriate management and long term surveillance to monitor for other manifestations of this syndrome that may occur later in life.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Basal Cell Nevus Syndrome ; Mandible ; Radiography, Panoramic ; Focal Dermal Hypoplasia ; Ribs ; Scoliosis ; Spinal Cord ; Women ; History ; Lost To Follow-up ; Diagnosis

This article reports a case of adult scoliosis with limb tremor treated with electroacupuncture. The patient presented with neck stiffness accompanied with limb tremor as the primary symptoms. The pattern was attributed to yang qi deficiency, and the treatment principle focused on unblocking the governor vessel, warming yang, and regulating qi. Acupuncture was applied to Dazhui (GV14), below the spinous processes of C₄-C₆ and bilateral C₄-C₆ Jiaji (EX-B2) points, Feishu (BL13), Xinshu (BL15), Pishu (BL20), Ganshu (BL18), Shenshu (BL23), Dachangshu (BL25). After achieving deqi sensation, bilateral C₄ Jiaji (EX-B2) and C₆ Jiaji (EX-B2) points were separately connected to an SDZ-Ⅴ electroacupuncture device, with continuous wave, 2 Hz of frequency, intensity should be within the tolerance of the patient, the needles were retained for 20 min. For the first 5 months, the treatment was 1-2 times a week, then reduced to 1-2 times a month thereafter. After 30 times of treatment, the patient's bilateral lower limb tremor resolved, the clinical rating scale for tremor (CRST) score was 13 points, the scoliosis showed improvement with about 10° reduction in Cobb angle. At 1-month follow-up, the condition remained stable without progression of scoliosis.
Adult ; Humans ; Acupuncture Points ; Electroacupuncture ; Scoliosis/physiopathology* ; Tremor/complications*

In order to investigate the mechanical response of lumbar vertebrae during gait cycle in adolescents with idiopathic scoliosis (AIS), the present study was based on computed tomography (CT) data of AIS patients to construct model of the left support phase (ML) and model of the right support phase (MR), respectively. Firstly, material properties, boundary conditions and load loading were set to simulate the lumbar vertebra-pelvis model. Then, the difference of stress and displacement in the lumbar spine between ML and MR was compared based on the stress and displacement cloud map. The results showed that in ML, the lumbar stress was mostly distributed on the convex side, while in MR, it was mostly distributed on the concave side. The stress of the two types of stress mainly gathered near the vertebral arch plate, and the stress of the vertebral arch plate was transmitted to the vertebral body through the pedicle with the progress of gait. The average stress of the intervertebral tissue in MR was greater than that in ML, and the difference of stress on the convex and convex side was greater. The displacement of lumbar vertebrae in ML decreased gradually from L1 to L5. The opposite is true in MR. In conclusion, this study can accurately quantify the stress on the lumbar spine during gait, and may provide guidance for brace design and clinical decision making.
Humans ; Lumbar Vertebrae/diagnostic imaging* ; Scoliosis/diagnostic imaging* ; Adolescent ; Gait/physiology* ; Biomechanical Phenomena ; Tomography, X-Ray Computed ; Stress, Mechanical ; Female ; Male

OBJECTIVE: To investigate the accuracy and safety of pedicle screw placement using 3D-printed auxiliary guides in scoliosis correction surgery for adolescents. METHODS: A retrospective analysis was conducted on the clinical data of 51 patients who underwent posterior scoliosis correction surgery from January 2020 to March 2023. Among them, there were 35 cases of adolescent idiopathic scoliosis and 16 cases of congenital scoliosis. The patients were divided into two groups based on the auxiliary tool used:the 3D-printed auxiliary guide screw placement group (3D printing group) and the free-hand screw placement group (free-hand group, without auxiliary tools). The 3D printing group included 32 patients (12 males and 20 females) with an average age of (12.59±2.60) years;the free-hand group included 19 patients (7 males and 12 females) with an average age of (14.58±3.53) years. The two groups were compared in terms of screw placement accuracy and safety, spinal correction rate, intraoperative blood loss, number of intraoperative fluoroscopies, operation time, hospital stay, and preoperative and last follow-up scores of the Scoliosis Research Society-22 (SRS-22) questionnaire. RESULTS: A total of 707 pedicle screws were placed in the two groups, with 441 screws in the 3D printing group and 266 screws in the free-hand group. All patients in both groups successfully completed the surgery. There was a statistically significant difference in operation time between the two groups (P<0.05). The screw placement accuracy rate of the 3D printing group was 95.46% (421/441), among which the Grade A placement rate was 89.34% (394/441);the screw placement accuracy rate of the free-hand group was 86.47% (230/266), with a Grade A placement rate of 73.31% (195/266). There were statistically significant differences in the accuracy of Grade A, B, and C screw placements between the two groups (P<0.05), while no statistically significant differences were observed in intraoperative blood loss, number of fluoroscopies, correction rate, or hospital stay (P>0.05). In the SRS-22 questionnaire scores, the scores of functional status and activity ability, self-image, mental status, and pain of patients in each group at the last follow-up were significantly improved compared with those before surgery (P<0.05), but there were no statistically significant differences in all scores between the two groups (P>0.05). CONCLUSION In scoliosis correction surgery, compared with traditional free-hand screw placement, the use of 3D-printed auxiliary guides for screw placement significantly improves the accuracy and safety of screw placement and shortens the operation time.
Humans ; Male ; Scoliosis/surgery* ; Female ; Adolescent ; Printing, Three-Dimensional ; Retrospective Studies ; Pedicle Screws ; Child

OBJECTIVES: To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. METHODS: Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). RESULTS: Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. CONCLUSIONS ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Dwarfism/genetics* ; Achondroplasia/genetics* ; Lordosis/genetics* ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Bone and Bones/abnormalities* ; Phenotype ; Limb Deformities, Congenital

OBJECTIVES: The detection rate of scoliosis among school-aged children has been rising annually, varying by region, and has become a major public health concern affecting both physical and mental health. Its onset is multifactorial, and early screening combined with targeted interventions can alter disease progression. This study aims to investigate the prevalence and influencing factors of scoliosis among primary and secondary school students in Hunan Province, providing scientific evidence for targeted prevention strategies. METHODS: A stratified, randomized cluster sampling method was used to select 281 401 students from 14 prefecture-level cities in Hunan Province for scoliosis screening, physical examination, and questionnaire survey. The chi-square test was used for group comparisons, and trend chi-square test analyzed differences in screening positive rate by age. A multilevel regression model was applied to identify influencing factors, and ArcGIS was used to visualize spatial distribution patterns of scoliosis. RESULTS: The overall screening positive rate for scoliosis among Hunan students was 1.61%. Urban areas had a significantly higher rate than rural counties (2.81% vs 0.98%; P<0.01). The rate was equal between boys and girls (1.61% each). Underweight students had a higher rate than those with normal weight, overweight, or obesity (P<0.01). Stratified by age, urban students aged 6-18 years consistently showed higher positive rates than rural peers (P<0.001). No significant gender differences were observed at most ages (all P>0.05), except at age 11, where the females had a higher rate (1.28% vs 1.02%; P=0.048). After age 11, underweight students exhibited significantly higher positive rates than those with normal or higher BMI(all P<0.05). Across all groups, urban/rural, male/female, underweight/normal/overweight/obese, the scoliosis rate increased with age. By region, the screening positive rate ranged from 0.38% to 3.36%, with the top three being Chenzhou (3.36%), Xiangtan (2.78%), and Hengyang (2.71%), while the lowest was Xiangxi Tujia and Miao Autonomous Prefecture (0.38%). Multilevel regression analysis revealed that age (OR=1.160, 95% CI 1.135 to 1.186) and urban residence (OR=2.497, 95% CI 1.946 to 3.205) were positively associated with scoliosis risk (both P<0.01). Conversely, female gender (OR=0.931, 95% CI 0.874 to 0.993), normal nutritional status (OR=0.751, 95% CI 0.671 to 0.840), overweight (OR=0.513, 95% CI 0.447 to 0.590), obesity (OR=0.418, 95% CI 0.358 to 0.489), and engaging in ≥ 60 minutes of moderate-to-vigorous physical activity 2 to 4 days (OR=0.928, 95% CI 0.865 to 0.996) or 5 to 7 days per week (OR=0.912, 95% CI 0.833 to 0.998) were negatively associated with scoliosis risk (all P<0.05). CONCLUSIONS The prevalence of scoliosis among primary and secondary school students in Hunan Province is relatively high and is significantly associated with age, gender, urban-rural status, nutritional condition, and physical activity frequency. Targeted interventions and enhanced monitoring in high-risk regions and populations are essential to prevent and control scoliosis.
Humans ; Scoliosis/epidemiology* ; Male ; Female ; Adolescent ; China/epidemiology* ; Prevalence ; Child ; Students/statistics & numerical data* ; Rural Population/statistics & numerical data* ; Urban Population/statistics & numerical data* ; Surveys and Questionnaires ; Risk Factors ; Thinness/epidemiology*

OBJECTIVE: To evaluate the effectiveness of the single-stage anterior eccentric kyphotic distraction reduction technique (EKD-RT) for treating lower cervical dislocation with locked facet joints, assessing its reduction success rate, neurological improvement, and safety. METHODS: A retrospective analysis was conducted on 67 patients with lower cervical dislocation and locked facet joints (21 unilateral, 46 bilateral) treated between January 2015 and January 2024. There were 39 males and 28 females, with an average age of 49.5 years (range, 22-75 years). The injured segments included C _{3, 4} in 4 cases, C _{4, 5} in 13 cases, C _{5, 6} in 22 cases, and C _{6, 7} in 28 cases. The interval between injury and admission ranged from 2 hours to 2 days (mean, 5.6 hours). Preoperative Frankel grading included grade A in 9 cases, grade B in 28 cases, grade C in 17 cases, grade D in 11 cases, and grade E in 2 cases. Japanese Orthopaedic Association (JOA) score was 7.0±1.4. All patients underwent single-stage anterior cervical discectomy and fusion. Following discectomy at the dislocated level, the EKD-RT was applied to unlock and reduce the locked facet joints, followed by internal fixation. Operation time, blood loss, reduction success rate, and complications were recorded. Interbody fusion status was evaluated using Bridwell criteria. Neurological status was assessed pre- and post-operatively using Frankel grading. Spinal cord function was scored using the 17-point JOA score, and the improvement rate was calculated. RESULTS: Successful reduction of the locked facet joints achieved in all cases. The operation time was 41-85 minutes (range, 63.3 minutes), and intraoperative blood loss was 50-360 mL (range, 125.0 mL). Complications included cerebrospinal fluid leakage in 2 cases; no severe complications such as major vascular injury or recurrent laryngeal nerve injury occurred. All patients were followed up 12-24 months (mean, 17.9 months). At last follow-up, radiological examination confirmed interbody fusion in all patients, with no implant failure or migration. The Frankel grading included grade A in 3 cases, grade B in 9 cases, grade C in 13 cases, grade D in 16 cases, and grade E in 26 cases; the JOA score reached 13.7±2.3; all of which significantly improved compared to preoperative levels ( P<0.05). The improvement rate of JOA score was 66.1%±24.7%. CONCLUSION The EKD-RT is an effective surgical approach for lower cervical dislocation with locked facet joints. It enables safe and efficient reduction of the locked facet joints via a single incision, resulting in significant neurological improvement with a low complication rate.
Humans ; Male ; Middle Aged ; Female ; Cervical Vertebrae/diagnostic imaging* ; Retrospective Studies ; Adult ; Aged ; Zygapophyseal Joint/injuries* ; Joint Dislocations/diagnostic imaging* ; Treatment Outcome ; Spinal Fusion/methods* ; Young Adult ; Kyphosis/surgery*

OBJECTIVE: To explore the effectiveness of posterior single-level osteotomy with 360° release and correction for the treatment of osteoporotic vertebral compression fractures (OVCF) complicated with moderate to severe kyphosis. METHODS: A retrospective analysis was conducted on 11 patients with OVCF complicated with moderate to severe kyphosis between January 2022 and March 2023. There were 4 males and 7 females with an average age of 57 years ranging from 47 to 69 years. The disease duration ranged from 3 to 15 months, with an average of 7 months. Fracture segments included T ₁₁ in 3 cases, T ₁₂ in 5, L ₁ in 2, and L ₂ in 1. The T value of lumbar spine bone density was -5.0 to -2.0, with an average of -3.5. The preoperative neurological function was grade E according to Frankel grading. The Pfirrmann classification of the intervertebral disc above the injured vertebra was grade Ⅲ in 8 cases and grade Ⅳ in 3 cases. All patients underwent posterior single-level osteotomy with 360° release and correction. The operation time, intraoperative blood loss, hospital stay, and postoperative complications were recorded. Thoracolumbar local kyphosis Cobb angle, the mean height of the functional spinal unit (FSU), the sagittal vertical axis (SVA), and the sagittal index (SI) were measured. The visual analogue scale (VAS) score and Oswestry disability index (ODI) were used to evaluate the improvement of pain and function before operation, at 1 month after operation, and at last follow-up. RESULTS: The operation successfully completed in all patients, and there was no obvious complication. The operation time ranged from 100 to 190 minutes, with an average of 153 minutes, and the intraoperative blood loss ranged from 200 to 800 mL, with an average of 468 mL. The length of hospital stay was 8-14 days (mean, 12 days). All patients were followed up 6-24 months, with an average of 12.4 months. At last follow-up, all the 11 patients had bony fusion in the osteotomy area, and there was no displacement or subsidence of the Cage, no complication such as internal fixation failure or pseudarthrosis formation was found. The Cobb angle of local thoracolumbar kyphosis, the mean height of FSU, SVA, and SI significantly improved immediately after operation and at last follow-up when compared with preoperative ones, and the VAS score and ODI also significantly improved at 1 month after operation and at last follow-up ( P<0.05); there was no significant difference in above indexes between the two time points after operation ( P>0.05). CONCLUSION Posterior single-level osteotomy with 360° release and correction is an effective surgical method for treating OVCF complicated with moderate to severe kyphosis, with definite early effectiveness.
Humans ; Kyphosis/etiology* ; Male ; Female ; Osteotomy/methods* ; Middle Aged ; Retrospective Studies ; Aged ; Spinal Fractures/diagnostic imaging* ; Fractures, Compression/diagnostic imaging* ; Osteoporotic Fractures/complications* ; Treatment Outcome ; Lumbar Vertebrae/injuries* ; Thoracic Vertebrae/injuries* ; Operative Time ; Fracture Fixation, Internal/methods*

OBJECTIVE: To explore clinical effect of bone cement-strengthened pedicle screw technique in the correction of stage Ⅲ asymptomatic Kümmell disease with kyphosis. METHODS: A retrospective analysis was conducted on clinical data of 40 asymptomatic stage Ⅲ Kümmell disease patients admitted between March 2019 and December 2021, including 15 males and 25 females, aged from 61 to 81 years old with an average of (67.4±5.2) years old;according to different surgical methods, they were divided into percutaneous kyphoplasty group (PKP) and reinforced screw group. There were 18 patients in PKP group, including 7 males and 11 females, aged from 61 to 78 years old with an average of (66.2±5.5) years old;the courses of disease ranged from 5 to 12 months with an average of (7.33±1.78) months;bone mineral density(BMD) T values ranged from -2.45 to -4.00 with an average of (-3.08±0.46);2 patients with T₈-T₉, 10 patients with T₁₀-T₁₂, and 6 patients with L₁-L₂;treated with PKP. There were 22 patients in reinforced screw group, including 8 males and 14 females, aged from 65 to 81 years old with an average of (68.5±3.8) years old;the courses of disease ranged from 4 to 15 months with an average of (7.86±2.73)months;bone mineral density(BMD) T values ranged from -2.40 to -4.50 with an average of (-3.18±0.54);3 patients with T₈-T₉, 12 patients with T₁₀-T₁₂, and 7 patients with L₁-L₂;treated with bone cement reinforced pedicle screw internal fixation combined with kyphoplasty. Cobb angle and anterior margin height of the injured vertebra were compared before operation, 3 d and 12 months after operation. Visual analogue scale (VAS) and Oswestry disability index (ODI) were compared between two groups before operation and 12 months after operation. The incidence of postoperative complications was compared between two groups. RESULTS: All patients were followed up, PKP group followed up for 11 to 14 months with an average of (11.97±0.96) months and 10 to 14 months with an average of (12.05±1.09) months in reinforced screw group;there was no significant difference between two groups (P>0.05). Postoperative Cobb angle at 3 days and 12 months in reinforced screw group were (7.34±2.26) ° and (18.86±1.96) °, while in PKP group were (18.88±1.89) ° and (23.28±1.90) °;there were statistical difference between two groups (P<0.05). The anterior margin height of the injured vertebra in reinforced screw group were (25.28±1.33) mm and (19.62±2.22) mm at 3 days and 12 months after operation, while in PKP group were (18.61±2.16) mm and(15.93±1.34) mm;there were statistical difference between two groups (P<0.05). Cobb angle and the anterior margin height of the injured vertebra were significantly improved at 3 days and 12 months after operation between two groups (P<0.05). Postoperative VAS and ODI at 12 months in PKP group were (2.00±0.69) score and (13.44±4.02)%, while in reinforced screw group were(1.91±0.61) score and (10.18±4.26)%;which were significantly lower than (6.89±0.76) score and (36.33±3.40)% in PKP group, (7.23±0.75) score and (37.09±3.73) % in reinforced screw group before operation. There were no difference in postoperative VAS between two groups at 12 months (P>0.05);postoperative ODI in reinforced screw group at 12 months was lower than that in PKP group(P<0.05). There was no significant difference in complications between two groups (χ²=0.071, P>0.05). CONCLUSION PKP and bone cement reinforced nail combined with PKP could improve kyphotic deformity and postoperative function, and relieve pain. The application of bone cement-reinforced nail fixation technology could provide a more stable support, more obvious functional recovery, lower the risk of re-collapse of the injured vertebra, and maintain the long-term stability of spine.
Humans ; Male ; Female ; Aged, 80 and over ; Kyphosis/surgery* ; Aged ; Bone Cements ; Middle Aged ; Retrospective Studies ; Pedicle Screws ; Spinal Fractures/surgery* ; Fracture Fixation, Internal/methods* ; Bone Screws ; Kyphoplasty

OBJECTIVE: To evaluate the impact of preoperative cervical sagittal parameters on the loss of cervical lordosis (LCL) after expansive open-door laminoplasty (EOLP) and explore the optimal predictors. METHODS: A retrospective analysis was performed on the clinical data of 94 patients with cervical spondylotic myelopathy who underwent EOLP from January 2019 to January 2021, including 61 males and 33 females, aged 34 to 75 years old with an average age of(53.1±9.7) years old. Preoperative routine anteroposterior, lateral, and dynamic X-ray films of the cervical and thoracic spine were taken to comprehensively assess various cervical sagittal parameters: T₁ slope (T₁S), C₂-C₇ sagittal vertical axis (C₂-C₇ SVA), C₂-C₇ cervical lordosis (CL), T1 slope-cervical lordosis (T₁S-CL), cervical lordosis/T₁ slope (CL/T₁S), C₂-C₇ cervical range of motion (ROM), thoracic kyphosis (TK), cephalad vertebral level undergoing laminoplasty (CVLL), and C_2,3 disc angle. Statistical analysis was conducted to identify the independent risk factors of preoperative sagittal parameters for postoperative LCL. RESULTS: A total of 94 patients meeting the inclusion and exclusion criteria were enrolled, with a postoperative follow-up period of 12 to 24 months. Pearson correlation analysis showed that T₁S, T₁S-CL, CVLL, and C_2,3 disc angle were significantly correlated with postoperative LCL, while C₂-C₇ SVA, CL, CL/T₁S, C₂-C₇ ROM, and TK had no significant correlation with postoperative LCL. Regression analysis further indicated that T₁S (β=0.426, P<0.001), T₁S-CL (β=0.716, P<0.001), C_2,3 disc angle (β=0.351, P<0.001), and CVLL (β=-3.348, P<0.001) were significantly correlated with postoperative LCL. CONCLUSION For patients with cervical spondylotic myelopathy treated with EOLP, T₁S, T₁S-CL, CVLL, and C_2,3 disc angle are important factors for predicting cervical lordosis loss, among which CVLL may be the most critical predictive indicator.
Humans ; Male ; Female ; Middle Aged ; Laminoplasty/methods* ; Aged ; Cervical Vertebrae/physiopathology* ; Retrospective Studies ; Adult ; Lordosis/surgery* ; Spondylosis/surgery*