Imaging and clinical study on the relationship between abnormal development of the proximal sacrum and precise insertion of sacroiliac screws / 中华骨科杂志

Objective:To investigate the clinical efficacy of robot-assisted sacroiliac screw implantation in the treatment of proximal dysplasia sacral fractures.Methods:A retrospective analysis was conducted on 191 patients admitted to the Pelvic Department of Tianjin Hospital from May 2016 to January 2021 who underwent robot assisted sacroiliac screw implantation with sacral fractures, including 105 males and 86 females, aged 38.5±6.5 years (ranging from 19 to 69 years old). Among them, there were 85 patients with dysplasia of proximal sacrum. According to the classification of proximal sacral dysplasia, the patients were divided into five groups: the steep sacral alar slope group ( n=60), the mastoid protrusion group ( n=30), the lumbar sacralization group ( n=25), the sacral foramen oval degeneration group ( n=23) and the S 1 anterior cortical depression group ( n=10). The remaining 106 patients were normal group. Iliac cortical density (ICD) line typing was recorded in the 85 patients. The the completion of sacroiliac screw implantation, the Gras score of screw position after operation, the postoperative complications, the minimum diameter of S 1 screw channel (R1), the angle ∠A between the S 1 sacroiliac screw in the coronal plane and the cephalic side, and the angle ∠B between the S 1 sacroiliac screw in the water plane and the ventral side were recorded and compared with those of normal development patients. Results:The incidence of steep sacral alar slope was the highest (31.4%, 60/191). There were 2 or more developmental abnormalities in 24 cases. In 85 cases with dysplasia of proximal sacrum, ICD line type I was found in 8 cases, type II in 12 cases and type III in 65 cases. 49 patients (58.8%, 49/85) were able to complete the implantation of S 1 sacroiliac screw, while 36 patients (35.3%, 36/85) were only able to complete the implantation of S 2 sacroiliac screw. The Gras score of postoperative screw position was 90.05% for grade I, 9.94% for grade II, and 0 for grade III. In 1 case the sacroiliac screw pierced through the anterior cortex of the sacrum, and in 1 case the screw partially threaded into the sacral foramen, and there were no symptoms of iatrogenic nerve injury. The R1 values of the preoperative steep sacral alar slope group, the mastoid protrusion group, the sacral foramen oval degeneration group, the lumbar sacralization group, the sacral foramen oval degeneration group and normal development patient group were 11.4±3.0, 11.6±3.2, 9.8±3.0, 8.8±4.2, 6.5±4.4, and 11.4±3.4 mm, respectively. The differences between the lumbar sacralization group, the sacral foramen oval degeneration group, and the S1 anterior cortical depression group with the normal development patients were statistically significant, respectively ( t=-3.05, P=0.005; t=-2.32, P=0.022; t=-3.45, P=0.006). The postoperative angle ∠A of the above six groups were 33.8°±4.2°, 20.8°±3.5°, 25.8°±2.5°, 35.5°±4.5, 27.8°±3.5° and 26.8°±5.0°, respectively. The postoperative angle ∠B of the above six groups were 27.8°±3.5°, 36.2°±3°, 26.3°±1.8°, 29.8°±2.7°, 14.8°±1.5° and 37.2±4.2°, respectively. The differences between the ∠A of the steep sacral alar slope group, the mastoid protrusion group, and tthe lumbar sacralization group with that of the normal development patients were statistically significant, respectively ( t=9.17, -7.48, 7.97, P<0.001). The differences between the ∠B of the steep sacral alar slope group, the lumbar sacralization group, the sacral foramen oval degeneration group, and the S 1 anterior cortical depression group with that of the normal development patients were statistically significant, respectively ( t=-14.68, -10.93, -19.79, -35.8, P<0.001). Conclusion:This study proposes the "absolute stenosis" of the S 1 screw channel; In the treatment of patients with abnormal proximal sacral fracture, attention should be paid to S 1 anterior cortical depression and lumbar sacralization, and robot-assisted sacroiliac screw implantation can further improve the safety and accuracy of sacroiliac screw implantation.

Madelung Deformity - Esthetic and Functional Outcomes from the Surgical Treatment with Distal Radial Dome Osteotomy and Vickers Ligament Section / Deformidade de Madelung - Resultado estético e funcional do tratamento cirúrgico com osteotomia em cúpula do rádio distal e secção do ligamento de Vickers

Abstract Objective The present study aimed to evaluate esthetic and functional outcomes from the surgical treatment of Madelung deformity in children. MethodThis is a retrospective study of pediatric patients with Madelung deformity who were surgically treated with dome osteotomy of the distal radius and Vickers ligament section from 2015 to 2018. Patients with a minimum postoperative follow-up period of 12 months were included. Demographic data, surgical technique, clinical and radiographic outcomes were analyzed. Pre and postoperative radiographic evaluation consisted of ulnar tilt, lunate subsidence lunate fossa angle, and palmar carpal displacement measurements. The postoperative clinical evaluation consisted of ranges of motion of the wrist, visual analog scale (VAS) and Disabilities of the Arm, Shoulder and Hand (DASH) score. Results Four patients were included, two with idiopathic Madelung deformity and two with bone dysplasia. All patients were females and presented bilateral disease. Six wrists were operated on. The median age at surgery was 15.5 years old, and the median postoperative follow-up time was of 37.5 months. The postoperative radiographic analysis revealed an average correction of 8.8 ± 7.5° for ulnar tilt, 3.0 ± 3.9 mm for lunate subsidence 8.2 ± 6.6° for lunate fossa angle, and 4.7 ± 2.6 mm for palmar carpal displacement. Average postoperative ranges of motion of the wrist joint were 75.8 ± 3.4° for flexion, 62.5 ± 14.1° for extension, 25.7 ± 2.9° for radial deviation, 40.0 ± 2.9° for ulnar deviation, 88.3 ± 2.4° for pronation, and 82.5 ± 2.5° for supination. The median VAS was 1 for residual pain, 0 for functional deficit, 0 for esthetic impairment, and 10 for recommending the surgical procedure. The median DASH score was 0. Conclusion Madelung deformity treatment using dome osteotomy of the distal radius and Vickers ligament section results in excellent esthetic and functional outcomes.

Resumo Objetivo Avaliar o resultado estético e funcional do tratamento cirúrgico da deformidade de Madelung em idade pediátrica. MétodoEstudo retrospectivo dos pacientes com deformidade de Madelung em idade pediátrica tratados cirurgicamente através de osteotomia em cúpula do rádio distal e secção do ligamento de Vickers entre 2015 e 2018. Foram incluídos doentes com tempo de seguimento pós-operatório mínimo de 12 meses. Foram analisados dados demográficos, técnica cirúrgica, resultados clínicos e radiográficos. A avaliação radiográfica pré e pós-operatória consistiu na medição da inclinação ulnar, do afundamento semilunar, do ângulo da fossa semilunar e do desvio palmar do carpo. A avaliação clínica pós-operatória consistiu na medição das amplitudes articulares do punho, escala visual analógica (EVA) e score Disabilities of the Arm, Shoulder and Hand (DASH). Resultados Foram incluídos quatro pacientes, dois com Madelung idiopática e dois com displasia óssea, todos do sexo feminino e com doença bilateral. Foram operados 6 punhos, a idade mediana à data de cirurgia foi 15,5 anos, e o tempo mediano de seguimento pós-operatório foi de 37,5 meses. Na análise radiográfica pós-operatória, verificou-se uma correção média de 8,8 ± 7,5° da inclinação ulnar, de 3 ± 3,9 mm do afundamento semilunar, de 8,2 ± 6,6° do ângulo da fossa semilunar e de 4,7 ± 2,6 mm do desvio palmar do carpo. Na avaliação da amplitude articular média pós-operatória, registrou-se uma flexão de 75,8 ± 3,4°; extensão de 62,5 ± 14,1°; desvio radial de 25,7 ± 2,9°; desvio cubital de 40,0 ± 2,9; pronação de 88,3 ± 2,4°; supinação de 82,5 ± 2,5°. Registou-se EVA mediana para dor residual = 1, défice funcional = 0, prejuízo estético = 0, e recomendação de procedimento cirúrgico = 10. A mediana do score DASH foi 0. Conclusão O tratamento da deformidade de Madelung através da osteotomia em cúpula do rádio distal e secção do ligamento de Vickers permite obter um excelente resultado estético e funcional.

Applying the femoral neck-lesser trochanter anteversion to evaluate the proximal femoral deformity of unilateral developmental dislocation of the hip in children / 中华骨科杂志

Objective:A new measurement index, femoral neck-lesser trochanter anteversion (FN-LTA), is proposed. To explore the feasibility and advantage of applying the FN-LTA to evaluate the proximal femoral deformity of unilateral developmental dislocation of the hip in children, so as to solve the current clinical problems.Methods:The imaging data of 90 patients with unilateral DDH admitted to our department from February 2016 to April 2017 were retrospectively analyzed, There were 13 males and 77 females. The age ranged from 0.6 to 11 years, with an average of 2.6±2.3 years. Femoral neck anteversion (FNA) and FN-LTA were measured at the affected and healthy sides. Analyze the correlation between FN-LTA and FNA, analyze the influence of gender, age, side, dislocation degree and other factors on FN-LTA, compare the difference between the affected side and the healthy side of FNA, FN-LTA, and analyze the influence of dislocation degree on this difference, compare the diagnostic efficacy and intra group consistency of FNA and FN-LTA. The possible advantages of FN-LTA in clinical application were preliminarily analyzed.Results:There was a positive correlation between FN-LTA and FNA in both healthy and affected sides (healthy side r=0.217, P=0.040, affected side r=0.298, P=0.004). FNA and FN-LTA in the affected side of DDH children were both larger than the healthy side, FNA affected side 38.86°±11.70°, healthy side 35.44°±11.16°; FN-LTA affected side 72.19°±9.17°, healthy side 61.17°±10.30°. The difference had statistical significance. FN-LTA was not affected by gender, side, degree of dislocation and other factors (gender P=0.060, side P=0.550, degree of dislocation of healthy side P=0.130, affected side P=0.705), but negatively correlated with age (healthy side r=-0.261, P=0.013, affected side r=-0.287, P=0.006). The diagnostic efficiency of FN-LTA is better, AUC FNA=0.561, AUC FN-LTA=0.736 ( P<0.05). FN-LTA and FNA had excellent intra group and inter group consistency. Inter group ICCFNA=0.956, ICCFN-LTA=0.973; intra group ICCFNA1=0.937, ICCFNA2=0.893, ICCFN-LTA1=0.887, ICCFN-LTA2=0.874. With the increase of dislocation degree, the difference between FNA and FN-LTA decreased. This decreasing trend was statistically significant in FNA ( P=0.030) but not in FN-LTA ( P=0.180). Conclusion:FN-LTA is a reliable method with a higher degree of differentiation for the assessment of anteverted deformity in DDH children' proximal end of femur, the measured data are more capable of guiding the rotation of osteotomy.

Displasia cemento-óssea florida: relato de dois casos tratados por diferentes abordagen / Florid cemento-osseous dysplasia: report of two cases treated with different approaches

Objetivo: relatar dois casos de displasia cemento-óssea florida, descrevendo a evolução clínico-radiográfica ao longo de 5 anos em um paciente assintomático e a abordagem cirúrgica em um caso sintomático. Relato de caso 1: paciente, melanoderma, sexo feminino, 56 anos de idade, encaminhada ao Serviço de Cirurgia Bucomaxilofacial da Universidade Federal da Bahia, por cirurgião-dentista clínico que notou alterações imagiológicas em radiografia panorâmica de rotina. Apesar da importante extensão da lesão em maxila e mandíbula, não havia qualquer sintoma ou sinal clínico de infecção. A paciente foi acompanhada durante 5 anos, com exames de imagem bianuais e medidas clínicas profiláticas. Relato de caso 2: paciente, melanoderma, sexo feminino, 57 anos, apresentou-se ao ambulatório de cirurgia queixando-se de atraso em cicatrização após remoção de um dente. A radiografia panorâmica e a tomografia computadorizada, em conjunto com dados clínicos, permitiram o diagnóstico de displasia cemento-óssea florida com infecção secundária. A paciente foi abordada por meio de osteotomia em região do defeito em mandíbula. A análise microscópica do espécime obtido confirmou a alteração displásica cementoide. Os sinais e sintomas regrediram e a paciente segue em acompanhamento. Considerações finais: a displasia cemento-óssea florida, portanto, é uma doença pouco frequente, cujas manifestações podem demandar diferentes abordagens. É importante o domínio clínico do cirurgião-dentista, uma vez que o diagnóstico equivocado pode guiar a escolhas terapêuticas com resultados insatisfatórios. (AU)

Objective: the objective of this article is to report two cases of florid cemento-osseous dysplasia describing the clinical-radiographic evolution over 5 years in an asymptomatic patient and the surgical approach in a symptomatic one. Case report 1: patient, melanoderma, female, 56 years old, referred to the service by a clinical Dentist who noticed imaging alterations in a routine panoramic radiography. Despite the important extension of the maxillary and mandibular lesion, there was no clinical sign or symptom of infection. The patient has been followed for 5 years with biannual imaging exams and prophylactic clinical measures. Case report 2: patient, melanoderma, female, 57 years old, presented to the surgery outpatient complaining of delay in healing after removal of a tooth. Panoramic X-ray and Computed Tomography together with clinical data allowed the diagnosis of florid cemento-osseous dysplasia with secondary infection. The patient was approached through osteotomy in the region of the mandible defect. The microscopic analysis of the specimen confirmed the dysplastic cementenoid alteration. Signs and symptoms regressed and the patient is in follow up. Final considerations: florida cementoosseous dysplasia is an infrequent disease, whose manifestations may require different approaches. The clinical domain of the Dentist is important, since misdiagnosis can lead to therapeutic choices with unsatisfactory results. (AU)

Study of genetic etiology in fetuses with severely short limbs in the first and second trimester using whole exome sequencing / 中华妇产科杂志

Objective To investigate pathogenic genes related to the phenotype of fetus with severely short limbs in the first and second trimester by whole exome sequencing (WES). Methods Thirteen fetuses with severely short limbs detected by ultrasonography in the first and second trimester admitted in Chinese PLA General Hospital from September 2016 to June 2018 were collected. All cases were performed induced abortion, 6 of which were carried out karyotype analysis of amniotic fluid at the same time. WES and copy number variations (CNV) were performed on specimens from fetal tissues after labor induction. The suspected pathogenic mutations were validated by Sanger sequencing reactions. Results No abnormal karyotypes or pathological CNV were found. In 10 fetuses, pathogenic or possibly pathogenic mutations were detected in the following genes: COL2A1, FGFR3, COL1A1, COL1A2, DYNC2LI1 and TRIP11, all of which were essential to skeletal development. The diagnostic yield of WES in the fetuses with severe short limbs was 10/13. Conclusions In the first and second trimester, most of the fetuses with extremely short limbs suffer from monogenic diseases. WES is likely to be a valuable diagnostic testing option for the fetuses with severe short limbs.

The role of a novel magnetic resonance imaging sequence in the evaluation of the fetal skeleton: a pilot study / O papel de uma nova sequência de ressonância magnética na avaliação do esqueleto fetal: um estudo piloto

Abstract Objective: We aimed to study the role of magnetic resonance imaging (MRI), including a novel MRI sequence-the modified volumetric interpolated breath-hold examination (VIBE)-in the characterization of the fetal skeleton. This novel sequence was useful for reconstructing three-dimensional images of the skeleton. Materials and Methods: We enrolled 22 pregnant women whose fetuses had shown congenital abnormalities on ultrasound examinations. The women underwent prenatal fetal MRI in a 1.5-T scanner with a T2-weighted modified VIBE sequence. Three-dimensional reconstructions of the fetal skeleton were performed manually on the instrument itself or via an interactive pen-tablet workstation. Results: Three-dimensional reconstructions of the fetal skeleton were performed after the acquisition of modified VIBE MRI sequences, and it was possible to characterize the fetal skeleton in all MRI examinations. Conclusion: A detailed evaluation of the three-dimensional reconstructions of fetal skeleton performed after acquisition of a modified VIBE MRI sequence allowed a full characterization of the skeleton. However, improvements to the proposed sequence should be addressed in future studies.

Resumo Objetivo: O objetivo deste estudo foi demonstrar o papel da ressonância magnética (RM) incluindo uma nova sequência chamada de volumetric interpolated breath-hold examination (VIBE)) modificada que permita a reconstrução tridimensional para avaliação do esqueleto fetal. Materiais e Métodos: Foram analisadas 22 mulheres grávidas portando fetos com anomalias congênitas, não exclusivamente esqueléticas, as quais foram observadas em exame de ultrassonografia prévia. Para a aquisição das imagens de RM utilizou-se aparelho 1,5 T com a sequência VIBE modificada, ponderada em T2. Reconstruções tridimensionais foram feitas, manualmente, no próprio aparelho ou em uma estação de trabalho pen tablet interativo. Resultados: Foi possível demonstrar a reconstrução tridimensional do esqueleto fetal por RM, com base em uma aquisição volumétrica da sequência VIBE modificada em todos os exames de RM do esqueleto fetal. Conclusão: Uma avaliação detalhada do esqueleto fetal pelas reconstruções tridimensionais realizadas após a aquisição da imagem usando sequência de RM VIBE modificada permitiu uma avaliação completa do esqueleto fetal, entretanto, as melhorias nessas sequências devem ser o foco de estudos futuros.

Caso Clínico: Uso de Biomodelos Tridimensionales para la Planificación Preoperatoria de Tumores Craneales Fronto - orbitarios / Case Report: Use of Tridimensional Biomodels for Surgical Planning in Fronto-orbital Bone Tumors

INTRODUCCIÓN: La impresión tridimensional de biomodelos ha demostrado en los últimos años ser de gran utilidad para el diagnóstico, tratamiento y planificación preoperatoria en prácticamente todas las especialidades quirúrgicas. En este reporte se presenta la experiencia inicial con el empleo de biomodelos tridimensionales, para la planificación pre quirúrgica de un paciente con displasia fibrosa fronto-orbitaria operado en Cuenca, Ecuador. CASO CLÍNICO: Paciente de sexo masculino de 11 años de edad que desde hace 4 años presentó una¿ masa frontal derecha dura, inmóvil, no dolorosa, de crecimiento progresivo, que produjo deformidad orbitaria con exoftalmia e hipotropia. La tomografía craneal demostró una lesión ósea de núcleo hipodenso, de 5 cm de diámetro mayor, con compromiso del techo de la órbita, porción lateral del seno paranasal frontal y extensión intracraneal extradural. EVOLUCIÓN: Para planificar la cirugía se elaboró un modelo óseo tridimensional que se usó para explicar al paciente y sus padres el objetivo del procedimiento y como se realizaría. El día de la intervención, se dibujaron las osteotomías y craneotomía en el modelo anatómico, plan que se aplicó exactamente en el paciente. El postoperatorio transcurrió sin novedades, la tomografía computarizada de control evidenció una resección completa de la lesión y una adecuada reconstrucción orbitaria. El paciente y sus familiares se mostraron muy satisfechos con las explicaciones dadas. CONCLUSIONES: La impresión 3D es una herramienta que cada vez gana más espacio en la docencia y también en la planificación quirúrgica pues permite disponer de modelos anatómicos muy precisos y simular el procedimiento operatorio, antes de realizar el procedimiento en el paciente real. (AU)

BACKGROUND: 3Dprinting of biomodels has shown in recent years to be very useful for diagnosis,treatmentandpreoperativeplanninginpracticallyall surgical specialties. Inthis reportispresentedthe initial experiencewiththeuseoftridimensionalbiomodels,forpre-surgicalplanninginapatientwithfronto-orbital fibrous dysplasia operated in Cuenca, Ecuador. CASE REPORT: An 11 years old boy presented with a 4-year history of a slow-growing, hard, non-mobile, painless rightfrontalmass which caused orbital deformity, proptosis, and hypotropia. Cranial Computer Tomography showed a 5 cm bone tumor with hypodense center compromising the orbital roof and the lateral aspect ofthe frontal paranasal sinus with intracranial extradural expansion. EVOLUTION: To design the surgery, a tridimensional bone model was elaborated and used to explain the patient and his parents the aim of the procedure and how it will be performed. The day of the intervention, the osteotomies and craniotomy were drawn on the anatomical model, plan that was exactly applied to the patient. The postoperative period was uneventful, control CT scan showed a complete resection of the lesion and an adequate orbital reconstruction. The patient and his relatives were very satisfied with the explanations given. CONCLUSIONS: 3D printing is a very useful surgical tool with wide applications in planning and education that allows simulate in very accurate biomodels an operative procedure before it was done in the actual patient(AU)

Caracterización de pacientes con enfermedades genéticas del esqueleto en un centro colombiano de remisión / Characterization of patients with skeletal genetic diseases in a Colombian referral center

RESUMEN Introducción. La prevalencia de talla baja en Colombia es de 10 %, aproximadamente. En el 2009, la International Skeletal Dysplasia Society incluyó 456 condiciones clínicas en su clasificación, con base en criterios bioquímicos, radiológicos y moleculares para su diagnóstico. Objetivo. Analizar las variables demográficas, epidemiológicas y clínicas en un grupo de pacientes con enfermedades genéticas del esqueleto, remitidos al Instituto de Ortopedia Infantil Roosevelt. Materiales y métodos. Se analizaron pacientes remitidos entre el 2008 y el 2014, con 167 diagnósticos relacionados con enfermedades genéticas del esqueleto según la Clasificación Internacional de Enfermedades, versión 2010 (CIE-10). Se exploraron las variables demográficas, epidemiológicas y clínicas empleando estadística descriptiva. Se generó una puntuación para las intervenciones que contempló las combinaciones de tratamientos, y se analizaron las variables mediante la prueba t de Student. Resultados. El motivo de consulta más frecuente fue por sospecha de enfermedad genética del esqueleto. Entre los tipos de tratamiento, se consideraron los de soporte, los quirúrgicos, el farmacológico y la 'ortesis', y se pudo establecer que los pacientes con enfermedades genéticas del esqueleto obtenían puntajes mayores en la variable de intervención y menores en las de talla alta y baja. Conclusiones. El diagnóstico de la mayoría de los pacientes remitidos respondía a enfermedades genéticas del esqueleto, talla baja y otras enfermedades genéticas monogénicas. Se encontraron diferencias significativas entre la edad de inicio de los síntomas y la de diagnóstico, así como diversos enfoques terapéuticos. Hubo menos intervenciones en los pacientes con talla alta y baja, lo cual podría alertar sobre la necesidad de reevaluar las necesidades terapéuticas de este grupo.

ABSTRACT Introduction: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. Objective: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. Materials and methods: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases. Demographic, epidemiological and clinical variables were explored using descriptive statistics. An intervention score was generated contemplating different combinations of treatments. An inferential statistical analysis using Student's t test was performed on such variables. Results: The most frequent reason for consultation was suspicion of a genetic skeletal disorder. The types of treatments considered included support, surgical, pharmacological and orthotics, and it was established that genetic skeletal disorders were associated with higher intervention scores while tall and short height showed a lower score. Conclusions: Most referred patients were classified with genetic bone diseases, short stature and other monogenic genetic diseases. Significant differences were found between the age at symptoms onset and the age of diagnosis. Diversity was found in the therapeutic approach among different groups of pathologies. Patients with tall and short height showed lower intervention scores, which may warn on the need to reassess the therapeutic requirements of these groups.

Progressive osseous heteroplasia: three case reports / 中华皮肤科杂志

Objective To investigate clinicopathological features,diagnosis and treatment of progressive osseous heteroplasia (POH).Methods Clinicopathological data were collected from 3 cases of POH,and analyzed retrospectively.Related literature was also reviewed.Results All the 3 patients were female,and developed POH within a few days to months after birth.POH clinically manifested as light pink or skin-colored indurated papules,nodules or plaques scattered over the scalp,trunk and extremities without subjective symptoms.Histopathological examination showed that there were flaky bone or bone-like tissues in the middle and lower dermis.Serum levels of calcium,phosphate and parathyroid hormone were normal in the 3 children.Case 1 was treated with oral sodium bicarbonate tablets and surgical resection of skin lesions on the right lower abdomen.During the follow-up for about 7 months,the skin lesions on the right lower abdomen did not recur,while other skin lesions became more bulging,larger and harder,and new skin lesions occurred.Case 2 was treated with topical adapalene gel,and these skin lesions did not increase in number,but became larger and harder.Case 3 received no treatment,and was lost to follow-up.Conclusion POH clinically manifests as indurated maculopapules and plaques progressively affecting deeper skin tissues,and there are no effective therapies or prevention approaches at present.

Total hip arthroplasty with structural bone graft of superolateral acetabulum for developmental dysplasia of the hip / 中华骨科杂志

Objective To assess the mid-or long-term clinical outcomes of the structural bone graft of superolateral acetabulum in total hip arthroplasty (THA) for developmental dysplasia of the hip (DDH).Methods Thirty-three patients with DDH (33 hips) were treated by THA with the structural bone graft of superolateral acetabulum technique between April 2002 and December 2011.There were 28 females and 5 males with the mean age at surgery 54.0±14.5 years (21-76 years).The degree of dislocation was graded preoperatively as Crowe Ⅱ in 12 patients,Crowe Ⅲ in 8 patients,and Crowe Ⅳ in 13 patients.The following outcomes were assessed,Harris hip score (HHS),the leg-length discrepancy,the height and horizontal distance of center of hip rotation,rate of cup coverage,the coverage ratio of bone graft,periprosthetic osteolysis,bone ingrowth,and cup loosening.Results The average follow-up was 9.3±3.3 years (5-15 years).The HHS improved from 40.9±13.7 preoperatively to 93.6±7.8 at the final follow-up (t=21.483,P=0.000).The leg-length discrepancy decreased from 24.2± 17.1 mm pre-operatively to 3.7±3.5 mm at postoperative 3 months (t=6.747,P=0.000).The height and horizontal distance of center of hip rotation decreased from preoperative 45.9±16.0 mm and 42.9±8.7 mm to postoperative 23.8±5.8 mm and 23.6±2.9 mm (t=7.460,P=0.000;t=12.090,P=0.000) at postoperative 3 days,respectively.The cup coverage and coverage ratio of bone graft was 100％ and 27.1％±6.9％,respectively.All grafts appeared to be incorporated without evidence of resorption and collapse.The mean time of incorporation was 7.6 ± 2.8 months.The coverage ratio of bone graft ＞25％ have a significantly long time of incorporation than that ＜25％ (9.4±2.3 months versus 6.3±2.4 months,t=5.357,P=0.000).At the final follow-up,all hips showed bone ingrowth fixation of the acetabular cup and stem.Five hips showed osteolysis,two hips in acetabular zone Ⅱ,three hips in femur zone Ⅰ and five hips in femur zone Ⅶ.The main complications were intraoperative femoral fractures (61％) without neurological damage,nonunion and dislocation.Conclusion The structural bone graft of superolateral acetabulum in THA for DDH can achieve satisfactory mid-or long-term outcomes.The superolateral acetabular deficiency can be reconstructed by bone graft.The bone graft coverage less than 25％ is conducive to fusion of bone graft and acetabular bone.However,intraoperative femoral fracture is common complication.

Comparison of two methods of early treatment in developmental dislocation of the hips / 中华骨科杂志

Objective To compare the early treatment results of Pavlik harness and closed reduction plus spica cast?ing in treating developmental dislocation of the hips (DDH). Methods The patients with GrafⅢ/Ⅳtype DDH diagnosed by ul?trasound in our hospital were analyzed retrospectively from January 2009 to December 2013. The subjects with intact clinical and radiologic data and more than 2 years follow?up were included. The present study included 257 patients (298 hips), 31 male and 226 female, with the average age of 74.1±39.2 d (from 30 to 159 d). Pavlik harness underwent in 190, while 67 cases were treated with closed reduction plus spica casting. Acetabular index (AI), Wiberg OE angle (point O was the middle point of proximal me?taphyseal border) and Smith instability index (SI, SI?c:the lateral displacement index, SI?h:the vertical displacement index) on the pelvic X?ray film at 2-3 years of age after successful early treatment were recorded. Femoral head avascular necrosis (AVN) was diagnosed according to the Salter criteria. Results The success rate of reduction of closed reduction was significantly higher than Pavlik harness (97.5% vs. 69.9%, χ2=0.353, P=0.000). There was no significant difference in the incidence of AVN be?tween the closed reduction and Pavlik harness (6.6% vs. 4.6%, χ2=0.106, P=0.745). For GrafⅢ type DDH, the success rate of reduction of Pavlik harness and closed reduction were 80.7% and 98.4% respectively (χ2=11.248, P=0.001), while the Pavlik harness group had significantly worse results of AI, OE and SI?c at the age of 2-3 years (Pavlik harness: 22.9°±3.7°, 16.5°± 6.3° and 0.74 ± 0.06; closed reduction: 21.4° ± 3.4° , 18.9° ± 3.6° and 0.72 ± 0.03; P<0.05). For GrafⅣ type DDH, the success rate of reduction of Pavlik harness was much less than closed reduction (25.6% vs. 94.4%, χ2=24.231, P=0.001), with signifi?cantly worse results of OE at the age of 2-3 years (16.0°±4.1° vs. 18.6°±4.5°, t=-2.141, P=0.038). Conclusion Pavlik har?ness has limitations in treating GrafⅢ/Ⅳtype DDH, with lower success rate of reduction for GrafⅣtype DDH. Closed reduction plus spica casting has better clinical results than Pavlik harness in success rate of reduction and subsequent hip development with? out the additional risk of AVN.

Condrodisplasia metafisaria tipo Schmid: presentación de un caso / Schimd methaphyseal chondrodysplasia: a case presentation

Fundamento: condrodisplasia metafisaria tipo Schmid, forma parte de las displasias óseas poco frecuentes. Se caracteriza por talla baja, genu varum, pélvis pequeña, cifoescoliosis progresiva, deformidad de la muñeca, miopía, huesos largos cortos y displasia metafisaria grave, con cambios moderados en la columna y cambios mínimos en las manos y los pies. Objetivo: presentar un caso con diagnóstico de displasia ósea tratado por un equipo multidisciplinario para su posterior corrección quirúrgica. Caso clínico: paciente femenina de tres años de edad, con deformidad en miembros inferiores que le provocan baja talla por genu varum. Los antecedentes familiares no refieren datos de interés. En los antecedentes personales prenatales, perinatales y posnatales se encontró que el desarrollo fue normal hasta los 16 meses que comienza a caminar y se observa ligera deformidad que fue aumentando. Conclusiones: la condrodisplasia metafisaria tipo Schmid es una enfermedad hereditaria poco frecuente que se presenta con un patrón de herencia autonómico dominante. Al no existir otro miembro de la familia afectado, se planteó que en este caso ocurrió una nueva mutación o mutación de novo. Es necesario indagar acerca de su presencia en un paciente con deformidad severa de miembros inferiores, con estudio renal y bioquímicos normales. Es importante realizar un diagnóstico precoz, tratamiento y seguimiento multidisciplinario para corregir la deformidad con tratamiento quirúrgico.

Background: methaphyseal chondrodysplasia is a type of non-frequent bone dysplasia. It is characterized by short stature, genu varum, small pelvis, progressive kyphoscoliosis, wrist deformities, myopia, short long bones and serious methaphyseal dysplasia with moderate changes in the back and minimal changes in hands and feet. Objective: to present the case of a patient with the diagnosis of bone dysplasia treated by a multidisciplinary medical team for a subsequent surgical correction. Clinical case: a three-year-old female patient with a deformity in the lower limbs that causes short stature by genu varum. There was no information of interest in the family medical history. The medical history of the patient showed a normal prenatal, perinatal and postnatal development until she turned 16 months old and started to walk presenting a slight deformity that increased. Conclusions: Schmid methaphyseal chondrodysplasia is an uncommon hereditary disease with a dominant autosomal heredity pattern. Since no other member in the family was affected, there was a De novo mutation in this case. It is necessary to search for its presence in a patient with a serious deformity in the lower limbs with normal biochemical and renal studies. It is important to make an early diagnosis as well as to carry out a treatment and a multidisciplinary follow-up to correct the deformity by means of surgical treatment.

Relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities: analysis of 187 cases / 中华围产医学杂志

Objective To investigate the relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities.Methods From January 2010 to April 2014,187 fetuses were found to have absent or hypoplastic nasal bone by prenatal ultrasound scanning in Guangzhou Maternal and Children's Hospital.All the pregnant women should undergo interventional prenatal diagnosis for fetal chromosome abnormalities,and should be followed up for three months after the expected delivery date.The correlation between absent or hypoplastic fetal nasal bone and chromosome abnormalities,and the effects of complicating structural defects were analyzed by descriptive analysis and the Chi-square test.Results Of the 187 pregnant women,126 underwent interventional prenatal diagnostic tests,and fetal chromosome abnormalities were detected in 36 cases (28.6％),including 26 cases (20.6％) of trisomy 21,6 cases (4.8％) of trisomy 18,three cases (2.4％) of trisomy 13 and one sex chromosome chimerism.In the 126 cases received prenatal diagnosis,the incidence of chromosome abnormalities in fetuses without other structural defects was significantly lower than that with structural defects [12.7％ (8/63) vs 44.4％ (28/63),x2=15.556,P=0.000].Among 63 cases without other structural defects,seven fetuses were confirmed to have chromosome abnormalities in 14 women with high risk by Down syndrome screening,no chromosome abnormalities were found in 39 pregnant women with low risk by Down syndrome screening,and one sex chromosome chimerism was found in the other ten women who did not undergo Down syndrome screening.Absent or hypoplastic nasal bone detected in the first trimester resulted in a higher risk of chromosome abnormalities than that detected in the second and the third trimester [25.5％ (28/110) vs 10.4％ (8/77),x2=6.613,P=0.007].Conclusions When a fetus is found to have absent or hypoplastic nasal bone,it is necessary to perform Down syndrome screening and a detailed morphology scan.Women shown to have fetuses with absent or hypoplastic nasal bone with other structural defects or high risk by Down syndrome screening should undergo prenatal diagnostic tests to exclude fetal chromosome abnormalities.

Diagnostic value of whole-body bone scan combined with SPECT/CT imaging for osteofibrous dys-plasia / 中华核医学与分子影像杂志

Objective To explore the diagnostic value of whole?body bone scan combined with SPECT/CT imaging for osteofibrous dysplasia( OFD) . Methods A total of 30 patients ( 14 males, 16 fe?males, age range 10-48 ( average age 29.2) years) with OFD confirmed by pathology from June 2007 to De?cember 2014 were included. The images of whole?body bone scan and SPECT/CT imaging were retrospec?tively analyzed. Results Nineteen patients (63.3%, 19/30) showed monostotic OFD, which mainly in?volved extremities (n=18), especially the femur. Eleven patients(36.7%, 11/30) showed polyostotic OFD, which frequently be seen unilaterally (n=7). Highly or obviously abnormal uptakes of radiotracer were shown in most lesions (95.3%, 81/85) on whole?body bone planar images, the ribs and extremities showed abnormal uptake along the backbone orientation, while the cranium, pelvis and spine showed irregu?lar bulky uptake of radioactivity. On SPECT/CT images, the lesions of high or obvious abnormal uptake of radiotracer mainly showed cystic expansion growth, ground glass, vegetable sponge and mixed appearance;and the higher the radioactive aggregation degree was, the more the morphological changes were. The density and morphological changes on CT were not obvious for lesions with moderately and mildly abnormal uptake of radiotracer. Conclusion The whole?body bone scan combined with SPECT/CT imaging is an effective diag?nostic method for OFD.

Adult bilateral Crowe type-IV developmental dysplasia of the hip:is the prosthesis an optimal therapeutic strategy? / 中国组织工程研究

BACKGROUND:Crowe type-IV developmental dysplasia of the hip presented complete dislocation of the femoral head, significantly shortening lower limb, serious adverse development of upper segment of acetabulum and femur, and even deformity. At present, there are no reports concerning its therapeutic strategy. OBJECTIVE:To explore the therapeutic strategy of adult bilateral Crowe type-IV developmental dysplasia of the hip. METHODA total of 12 cases of adult bilateral Crowe type-IV developmental dysplasia of the hip, who were treated in the Department of Orthopedics, The First People’s Hospital of Changzhou from January 2000 to January 2013, were col ected. There were 5 males and 7 females, at the age of 19-47 years old, averagely 33.5 years old. After two or three weeks of skeletal traction, they received bilateral total hip arthroplasty. Hip rotation center was reconstituted at the level of the“true”acetabulum. The subtrochanteric osteotomy was performed for patients with reduction difficulty. For patients with femoral neck anteversion>40°, subtrochanteric rotary osteotomy was performed. RESULTS AND CONCLUSION:Disappearance of hip pain, satisfied move function and normal gait were gained after operation. Lower limbs recovered to be isometric. The average leg lengthening was 3.1 cm (range, 2.5 to 4.8 cm). One patient affected sciatic nerve irritation. The average fol owed-up time was 3.5 years. No fracture, dislocation or loosening of the prosthesis appeared. The post-operative Harris Hip Score averaged 86.3. By reconstruction of the hip rotation center in the“true”acetabular level, correction of femoral neck anteversion, reconstruction of function of the abduction muscle and proper selection of prosthesis, total hip arthroplasty for adult bilateral Crowe type-IV developmental dysplasia of the hip could obtain good curative effects.

Treatment of Crowe type Ⅳ developmental dysplasia of the hip with total hip arthroplasty after limb-lengthing with external fixator / 中华骨科杂志

Objective To retrospectively analyze the methods and clinical outcome to treat Crowe type Ⅳ developmental dysplasia of the hip (DDH) in young adults with total hip arthroplasty (THA) after limb-lengthing with external fixator.Methods From October 2007 to January 2012,12 patients with unilateral Crowe type Ⅳ DDH were treated with two-staged surgical method in our department.There were 2 males and 10 females with an average age of 25.7 years (range,18-35 years).In the first stage,the patients underwent soft tissue relaxation and iliofemoral distraction with use of an external fixator for 10-17 days.There were 1-2 cm distraction at the first time and 3-5 mm daily distraction.When the femoral head was distracted to the level of anatomical position,the second stage-THA was performed.All patients underwent uncemented prosthesis with bulk femoral head autograft for acetabular reconstruction.The acetabular cup was placed in the anatomical position in every patient.Shortening femoral osteotomies were not required.Results The mean time of first operation was 35.2±3.6 min,and hospital stay was 13.3±1.6 days.The mean time of second operation was 77.3±12.4 min,and hospital stay was 9.2±2.5 days.The average follow-up was 13.6±3.2 months,limb-length discrepancy was 5.6±1.5 cm on average preoperatively and 0.5±0.2 cm on average postoperatively.The Harris hip score was increased from 45.7±2.6 preoperatively to 92.3±3.3 postoperatively.All of the cases had acquired good hip and knee function.No patient suffered pin-site infection,hip joint infection,prosthesis loosening or deep vein thrombosis in our research.Transient nerve palsy occurred during the leg limb lengthening in 3 cases; calf skin numbness after THA occurred in 5 cases.Conclusion For the Crowe type Ⅳ DDH in young adults,normal limb length can be restored nearly and avoid nerve injury via continuously limb-lengthing with external fixator before THA.This method can get precise results,improve limb function significantly and have fewer complications.

Tratamento cirúrgico de displasia de desenvolvimento do quadril de apresentação tardia depois da idade da marcha / Surgical treatment of the late - presenting developmental dislocation of the hip after walking age

OBJETIVO: Os casos de displasia de desenvolvimento do quadril (DDQ) ainda ocorrem depois da idade da marcha devido ao diagnóstico tardio ou ausente e à falha do tratamento conservador. A escolha do tratamento da DDQ depois da idade da marcha continua controversa e uma das opções é a redução a céu aberto combinada com osteotomia do inominado.MÉTODOS: Vinte pacientes com 26 quadris com DDQ tratados cirurgicamente foram avaliados de 2005 a 2008, usando-se a osteotomia do inominado pela técnica de Salter depois de redução e capsulorrafia a céu aberto. A idade dos pacientes no momento da cirurgia variou de 12 a 18 meses (média de idade 14,7 meses). De 15 pacientes do sexo feminino e cinco do masculino, seis tiveram luxação bilateral e dos restantes, nove tiveram luxação do quadril esquerdo e cinco, do direito.RESULTADOS: Os resultados foram avaliados de acordo com os critérios modificados de McKay e dos critérios radiológico de Severin, depois de acompanhamento médio de 46,7 meses. Oitenta e nove por cento dos quadris foram classificados como excelentes ou bons pelos critérios de McKay. Não houve resultados ruins. De acordo com os critérios de Severin, 77% eram do tipo I e II, enquanto 23% eram do tipo III e IV; nenhum quadril foi classificado nos tipos V ou VI. Houve um caso (3,8%) de reluxação, mas a cirurgia de revisão resultou em redução estável, concêntrica e permanente. Não há relato de casos de infecções, fratura do enxerto e lesão vacular ou nervosa.CONCLUSÃO: A redução a céu aberto combinada com a osteotomia de Salter não afeta o quadril com relação à remodelação em crianças entre 12 e 18 meses de idade. Nível de Evidência IV, Série de Casos.

OBJECTIVE: Cases of developmental dislocation of the hip (DDH) still occur after walking age because of late or missed diagnosis and failed conservative treatment. The choice of treatment for DDH after walking age continues to be controversial, and one of the options is open reduction combined with innominate osteotomy.METHODS: Twenty patients with 26 surgically treated hips with DDH, were evaluated from 2005 to 2008, using innominate osteotomy by Salter's technique after open reduction and capsulorraphy. The age of patients, fifteen females and five males, at time of surgery ranged from 12 to 18 months (mean age 14.7 months). Six patients had bilateral dislocation and in the remaining, nine had their left hip dislocated and five had their right hip dislocated.RESULTS: The results were evaluated according to modified McKay criteria and to Severin radiological criteria, after a mean follow-up of 46.7 months. Eighty – nine percent of hips were rated as excellent or good by McKay criteria. There were no poor results. According to Severin criteria, 77% were type I and II while 23% showed type III and IV, no hips were rated as Severin's group V or VI. There was one case (3.8%) of re-dislocation, but revision surgery resulted in stable, concentric, and permanent reduction. No cases of infection, graft fracture and vascular or nervous injury were reported.CONCLUSION: Open reduction combined with Salter osteotomy does not hurt the hip with regard to acetabular remodeling for children between 12 and 18 months of age. Level of Evidence IV, Case Series.

Displasia cemento-óssea florida: relato de caso / Florid cemento-osseous dysplasia: case report

Objetivo: Os autores relatam um caso clínico de Displasia Cemento-Óssea Florida em mulher negra, 71 anos, desdentada, portadora de prótese total, com áreas hipercompressivas refletindo reação inflamatória no rebordo alveolar inferior. Descrição do caso: O tecido mole das áreas mucosas de rebordo se mostrava tumefacto difusamente, sugerindo fibromatoses localizadas. Radiograficamente, áreas radiopacas regulares e difusas eram observadas ao longo dos ossos maxilares. Biópsia em uma dessas áreas evidenciou, à microscopia óptica, quadro histopatológico compatível com displasia cementária, o que possibilitou o diagnóstico final de displasia cemento óssea florida, chamada também de cementoma gigantiforme, apesar de não representar uma verdadeira neoplasia. Conclusão: Os autores consideram, ainda, que não há relação com alterações sistêmicas de natureza hormonal ou metabólica e que na proposição do diagnóstico definitivo concorrem as características clínicas, radiográficas e histopatológicas.

Aim: The authors describe a clinical case of Florid Cemento-Osseous Dysplasia in black woman, 71 years old, edentous, bearer of total prosthesis, with areas hipercompressives reflecting inflammatory reaction in the inferior alveolar edge. Case description: The soft tissue of the mucous areas of edge was shown diffuse tumescent, suggesting located fibromatoses. Regular and diffuse radiopac radiographic areas were observed along the bones maxillaries. Biopsy in one of those areas evidenced, to the optical microscopy, histopathological images compatible with cementous dysplasia, what made possible the final diagnosis of Florid Cemento-Osseous Dysplasia, also called gigantiform cementoma, in spite of not representing a true neoplasm. Conclusion: The authors consider also that there is no relation with systemic hormonal or metabolic and the proposition that the definitive diagnosis is based in the clinical, radiographic and histopathologic features.

The clinical effects of total hip replacement for the developmental dysplasia of the hip in adult / 中国医师进修杂志

Objective To evaluate efficiency and safety of total hip replacement (THR) in the treatment of developmental dysplasia of the hip (DDH) in adult.Method From Jane 2005 to January 2011,a total of 30 patients (30 hips) of DDH underwent THR.The preoperative average Harris score 52.8 points (25 to 58 points).Results Follow-up period of 8 months to 5 years,the average time of 2.9 years.The postoperative average Harris score 88.9 points (75 to 96 points),good rate of 86.7％ (26/30),All the patiients were no femoral nerve palsy,,no infection,aseptic loosening and prosthesis subsidence and other complications.The ostoperative acetabular bone were healed.Conclusion THR is a good treatment method for DDH in adult,especially in patients with dislocation of the femoral head high.The key techniques for the THR are as follow so good preoperative plan.

Imaging feature of dysplasia epiphysealis hemimelica / 中华放射学杂志

Objective To investigate the imaging features of dysplasia epiphysealis hemimelica (DEH).Methods Thirteen cases of DEH confirmed by pathology (between 1.5 to 19.0 years old)underwent X-ray scan.Additionally,CT scan was performed in one patient,MR scan was performed in one,and CT and MR scan were both performed in one.Results The lesions all occurred in lower limb.There were 32 lesions,and multiple lesions were detected in 8 cases.Lesions involved holo-epiphyses in 6 cases,Twenty-three lesions were in the medial limbs,3 were in the lateral limb.With Azouz classification,the limited form was identified in 5 cases,while the classic form was identified in 8 cases.Among 13 cases,there were 4 cases with ankle eversion,3 cases with the knock knee,2 cases with the ankle inversion,and 2 cases with the strephexopodia.The metaphysis of 8 cases were widened and deformed,and the provisional zone of calcification of 1case disappeared partly and the epiphysis closed prematurely.Conclusions One or multiple eccentric enlarged ossification center of unilateral or bilateral limb is the imaging feature of DEH.There is sporadic calcification or ossification on the prophase.The calcification or ossification can fuse each other to form agglomerate at the advanced stage.The bone can deform and shift when compressed by the mass,and bone defect can even occur.