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1.
JBJS Case Connect ; 14(2)2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38635770

ABSTRACT

CASE: We present an unusual case of bilateral femoral neck fatigue fractures in a 28-year-old pregnant woman at the 18th week of gestation successfully treated through operative intervention involving consecutive total hip arthroplasty and internal fixation within the same procedure, resulting in favorable clinical outcomes. CONCLUSION: Current clinical practices suggest that a restricted use of plain radiographs, even those involving the pelvis in pregnant women carries a minimal risk to the fetus and is not contraindicated. Magnetic resonance imaging proved valuable for differential diagnosis, contrasting with sonography.


Subject(s)
Femoral Neck Fractures , Fractures, Stress , Pregnancy , Humans , Female , Adult , Fractures, Stress/complications , Fractures, Stress/diagnostic imaging , Fractures, Stress/surgery , Pregnant Women , Hip/pathology , Femoral Neck Fractures/complications , Femoral Neck Fractures/diagnostic imaging , Femoral Neck Fractures/surgery , Pain , Arthralgia
2.
Magn Reson Imaging ; 111: 237-245, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38636675

ABSTRACT

Limited information exists regarding abductor muscle quality variation across its length and which locations are most representative of overall muscle quality. This is exacerbated by time-intensive processes for manual muscle segmentation, which limits feasibility of large cohort analyses. The purpose of this study was to develop an automated and localized analysis pipeline that accurately estimates hip abductor muscle quality and size in individuals with mild-to-moderate hip osteoarthritis (OA) and identifies regions of each muscle which provide best estimates of overall muscle quality. Forty-four participants (age 52.7 ± 16.1 years, BMI 23.7 ± 3.4 kg/m2, 14 males) with and without mild-to-moderate radiographic hip OA were recruited for this study. Unilateral hip magnetic resonance (MR) images were acquired on a 3.0 T MR scanner and included axial T1-weighted fast spin echo and 3D axial Iterative Decomposition of water and fat with Echo Asymmetry and Least-squares estimation (IDEAL-IQ) spoiled gradient-recalled echo (SPGR) with multi-peak fat spectrum modeling and single T2* correction. A three dimensional (3D) V-Net convolutional neural network was trained to automatically segment the gluteus medius (GMED), gluteus minimus (GMIN), and tensor fascia lata (TFL) on axial IDEAL-IQ. Agreement between manual and automatic segmentation and associations between axial fat fraction (FF) estimated from IDEAL-IQ and overall muscle FF were evaluated. Dice scores for automatic segmentation were 0.94, 0.87, and 0.91 for GMED, GMIN, and TFL, respectively. GMED, GMIN, and TFL volumetric and FF measures were strongly correlated (r: 0.92-0.99) between automatic and manual segmentations, where all values fell within the 95% limits of agreement of [-9.79 cm3, 17.43 cm3] and [-1.99%, 2.89%], respectively. Axial FF was significantly associated with overall FF with the strongest correlations at 50%, 50%, and 65% the length of the GMED, GMIN, and TFL muscles, respectively (r: 0.93-0.97). An automated and localized analysis can provide efficient and accurate estimates of hip abductor muscle quality and size across muscle length. Specific regions of the muscle may be used to estimate overall muscle quality in an abbreviated evaluation of muscle quality.


Subject(s)
Magnetic Resonance Imaging , Muscle, Skeletal , Osteoarthritis, Hip , Humans , Male , Middle Aged , Female , Magnetic Resonance Imaging/methods , Muscle, Skeletal/diagnostic imaging , Muscle, Skeletal/pathology , Osteoarthritis, Hip/diagnostic imaging , Osteoarthritis, Hip/pathology , Adult , Aged , Image Processing, Computer-Assisted/methods , Hip/diagnostic imaging , Hip/pathology
3.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 68(2): 121-127, Mar-Abr. 2024. tab
Article in Spanish | IBECS | ID: ibc-231889

ABSTRACT

Antecedentes y objetivos: La escala de Harris modificada (EHM) es una de las herramientas más utilizadas para valorar pacientes con patología de cadera. A pesar de contar con una adaptación transcultural al español realizada por Lara et al., no cuenta con estudios que sustenten su validez. Se pretende obtener una validación de la versión adaptada de la EHM (ES-EHM), comparándola con la escala WOMAC. Materiales y métodos: La ES-EHM se aplicó a 100 pacientes operados de prótesis total de cadera: (1) previamente a la cirugía (ES-EHM prequirúrgica), (2) 2 años tras la cirugía (ES-EHM posquirúrgica) y (3) 6 meses después de la aplicación de la ES-EHM posquirúrgica (ES-EHM final). Se aplicó también, en una ocasión, el cuestionario WOMAC. Se compararon las medias de la ES-EHM prequirúrgica, posquirúrgica y final, así como la totalidad y los parámetros de dolor y función de la ES-EHM con la escala WOMAC. Se obtuvieron parámetros de fiabilidad, validez y sensibilidad al cambio. Resultados: Al comparar la ES-EHM prequirúrgica y la posquirúrgica, se observó una mejoría clínicamente relevante (46,54 puntos). Al comparar la ES-EHM posquirúrgica y la final, no se detectaron diferencias. Se obtuvo una correlación fuerte entre: (1) la ES-EHM posquirúrgica y la ES-EHM final, (2) ES-EHM y WOMAC y (3) parámetros de dolor y función de la ES-EHM y la WOMAC. El índice de respuesta media estandarizada fue de 2,99, la fiabilidad test-retest representada por el coeficiente de correlación intraclase de 0,90 y el índice de consistencia interna alfa de Cronbach de 0,95. Conclusiones: La adaptación transcultural de la ES-EHM muestra ser fiable, válida y sensible al cambio. Por lo tanto, el personal médico de la población española podrá aplicar la ES-EHM con el respaldo científico y la certeza de estar midiendo los parámetros deseados.(AU)


Background and objectives: Modified Harris Hip Score (HHS) is one of the most used scales in the assessment of patients with hip pathology. Although a Spanish cross-cultural adaptation has been recently published, there are many studies supporting its validity yet. Therefore, the aim of this study is to validate the newly adapted Spanish version of the HHS (ES-EHM), comparing it with the WOMAC scale. Materials and methods: The ES-EHM scale was applied to 100 patients who underwent a total hip replacement, in three different situations: (1) prior to surgery (pre-surgical ES-EHM), (2) after surgery, with at least 2 years of follow up (after surgery ES-EHM), and (3) 6 months after the postsurgical registration (final ES-EHM). WOMAC questionnaire was also applied once. We analyzed data of scale main score, pain score, function-related score as well as the mean of pre-surgical, postsurgical and final postsurgical ES-EHM scale, in both the ES-EHM and the WOMAC scales. Parameters of reliability, validity and sensitivity to change were obtained. Results: Clinically relevant improvement was observed (46.55 points) when comparing pre-surgical and post-surgical ES-EHM scores. However, no differences between postsurgical and final ES-EHM were detected. Even so, strong correlation was obtained between the following: (1) postsurgical ES-EHM and final ES-EHM scores, (2) ES-EHM and WOMAC scores, and (3) pain and function-related parameters of ES-EHM and WOMAC scores. Standardized response mean (SRM) was 2.99, test–retest reliability expressed by the intraclass correlation coefficient was 0.90 and Cronbach index 0.95. ConclusionsThe Spanish cross-cultural adaptation of the EHM scale shows to be reliable, valid and sensitive to change. Thus, the Spanish medical staff will be able to apply the ES-EHM scale with good scientific support.(AU)


Subject(s)
Humans , Male , Female , Hip/pathology , Hip/surgery , Hip Fractures , Cultural Diffusion , Hip Prosthesis , Pain Management , Orthopedic Procedures
5.
Sci Rep ; 14(1): 4140, 2024 02 20.
Article in English | MEDLINE | ID: mdl-38374383

ABSTRACT

The present study aimed to compare clinical and radiological differences of ONFH patients who were treated with denosumab, and a control group. A total of 178 patients (272 hips) with symptomatic, nontraumatic ONFH were divided into a denosumab group (98 patients, 146 hips) and a control group (80 patients, 126 hips). Patients in the denosumab group received a 60 mg subcutaneous dose of denosumab every 6 months. For the clinical assessments, Harris hip scores (HHS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) were evaluated. Plain radiographs and MRI were performed before and a minimum of 1 year after administration of denosumab, which were evaluated for radiological results including femoral head collapse (≥ 2 mm) and volume change of necrotic lesion. Femoral head collapse occurred in 36 hips (24.7%) in the denosumab group, and 48 hips (38.1%) in the control group, which was statistically significant (P = 0.012). Twenty-three hips (15.8%) in the denosumab group and 29 hips (23%) in the control group required THA, which showed no significant difference (P = 0.086). At the final follow-up, 71.9% of hips in the denosumab group had a good or excellent HHS compared with 48.9% in the control group, showing a significant difference (P = 0.012). The denosumab group showed a significantly higher rate of necrotic lesion volume reductions compared with the control group (P < 0.001). Denosumab can significantly reduce the volume of necrotic lesions and prevent femoral head collapse in patients with ARCO stage I or II ONFH.


Subject(s)
Denosumab , Femur Head Necrosis , Humans , Denosumab/therapeutic use , Retrospective Studies , Femur Head/diagnostic imaging , Femur Head/pathology , Femur Head Necrosis/diagnostic imaging , Femur Head Necrosis/drug therapy , Femur Head Necrosis/pathology , Hip/pathology , Treatment Outcome
6.
Rev. clín. esp. (Ed. impr.) ; 223(1): 17-24, ene. 2023.
Article in Spanish | IBECS | ID: ibc-214305

ABSTRACT

Introducción La osteonecrosis avascular (ONA) de cadera y de hombro es una enfermedad poco estudiada y no se conocen bien los factores de riesgos predisponentes para desarrollarla. Existe un porcentaje alto de pacientes diagnosticados como osteonecrosis idiopática. Este estudio tiene como objetivo investigar la prevalencia de los posibles factores etiológicos de la ONA y realizar un cribado de la enfermedad de Gaucher en los pacientes diagnosticados de ONA idiopática. Material y método Estudio observacional retrospectivo y unicéntrico de los pacientes que hayan presentado al menos un episodio de osteonecrosis avascular de la cadera o del hombro en el Hospital de Poniente (Almería, España) desde enero de 2010 a diciembre de 2019. Se recogieron datos clínicos y analíticos. Los pacientes en cuya historia clínica no se describían factores etiológicos fueron cribados para enfermedad de Gaucher. Resultados Se incluyeron un total de 81 pacientes, de los cuales 58 eran hombres. La edad media de presentación de ONA fue de 45,9 años. Presentaron necrosis unilateral de cadera (n = 43), necrosis bilateral de cadera (n = 34), necrosis bilateral de cadera y unilateral de hombro (n = 3) y necrosis unilateral de hombro (n = 1). Los potenciales factores etiológicos más frecuentes fueron tabaquismo (46,9%) y obesidad (17,3%). Se realizó un cribado de la enfermedad de Gaucher en 10 pacientes, que resultó ser negativo. Conclusiones En nuestro estudio los principales potenciales factores etiológicos de aparición de la ONA fueron el tabaquismo y la obesidad. Existe un porcentaje alto de pacientes diagnosticados de osteonecrosis avascular idiopática. Creemos que en estos casos se debería realizar un estudio más exhaustivo de los factores de riesgo menos frecuentes (AU)


Introduction Avascular necrosis (AON) of the hip and shoulder is a little studied disease and the predisposing risk factors for its development are not well known. A high percentage of patients are diagnosed with idiopathic osteonecrosis. This study aims to investigate the prevalence of potential etiological factors for AON and to screen for Gaucher disease among patients with idiopathic AON. Material and methods This retrospective, single-center, observational study was conducted on patients who had at least one episode of AON of the hip or shoulder at the Hospital de Poniente (Almería, Spain) from January 2010 to December 2019. Clinical and analytical data were collected. Patients whose medical record described no etiological factors for this disease were screened for Gaucher disease. Result The study sample consisted of 81 patients, of whom 58 were male. The mean age at presentation of AON was 45.9 years. They presented with unilateral hip necrosis (n = 43), bilateral hip necrosis (n = 34), bilateral hip and unilateral shoulder necrosis (n = 3), and unilateral shoulder necrosis (n = 1). The most frequent potential etiological factors were smoking (46.9%) and obesity (17.3%). Screening for Gaucher disease was performed in ten patients, all of whom tested negative. Conclusions In our study population, the main potential etiological factors the onset of AON of the shoulder or hip were smoking and obesity. A high percentage of patients were diagnosed with idiopathic AON. We believe that a more exhaustive study of less frequent risk factors should be carried out in these cases (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Gaucher Disease/diagnosis , Osteonecrosis/diagnosis , Osteonecrosis/etiology , Hip/pathology , Shoulder/pathology , Retrospective Studies , Mass Screening , Risk Factors , Prevalence
7.
Article in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1420053

ABSTRACT

Tanto la osteomielitis como la osteoartritis séptica en el período neonatal son patologías infrecuentes. La afectación ósea de la columna cervical es aún más rara, siendo excepcional en neonatos. Son patologías graves, con elevada morbimortalidad, donde el diagnóstico y tratamiento precoz agresivo son de suma importancia para el pronóstico vital y funcional. Presentamos el caso de un neonato que presentó una sepsis a S. Aureus multirresistente, asociada a una osteomielitis de la primera vértebra cervical y a una osteoartritis séptica de la cadera izquierda. Fue tratado precozmente de forma quirúrgica y con antibioticoterapia, presentando una buena evolución.


Both osteomyelitis and septic osteoarthritis in the neonatal period are infrequent pathologies. Bone involvement of the cervical spine is even rarer, being exceptional in neonates. These are serious pathologies, with high morbimortality, where early diagnosis and aggressive treatment are of utmost importance for the vital and functional prognosis. We present the case of a neonate who presented with sepsis due to multidrug-resistant S. Aureus, associated with osteomyelitis of the first cervical vertebra and septic osteoarthritis of the left hip. He was treated early surgically and with antibiotic therapy, presenting a good evolution


Tanto a osteomielite como a osteoartrose séptica no período neonatal são patologias raras. O envolvimento ósseo da coluna cervical é ainda mais raro, sendo excepcional nos recém-nascidos. Estas são patologias graves, com elevada morbimortalidade, onde o diagnóstico precoce e o tratamento agressivo são da maior importância para o prognóstico vital e funcional. Apresentamos o caso de um recém-nascido que apresentou sepse devido a S. Aureus multirresistente, associado a osteomielite da primeira vértebra cervical e osteoartrose séptica da anca esquerda. Foi tratado precocemente cirurgicamente e com terapia antibiótica, com uma boa evolução.


Subject(s)
Humans , Male , Infant, Newborn , Osteomyelitis/diagnosis , Cervical Atlas/pathology , Staphylococcal Infections/diagnosis , Hip/pathology , Osteomyelitis/drug therapy , Rifampin/therapeutic use , Staphylococcal Infections/drug therapy , Vancomycin/therapeutic use , Delayed Diagnosis , Neonatal Sepsis , Anti-Bacterial Agents/therapeutic use , Anticoagulants/therapeutic use
10.
Actual. osteol ; 18(3): 192-196, 2022. ilus
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1509484

ABSTRACT

La displasia ósea esclerosante es una afectación en el desarrollo intrínseco del esqueleto, por alteración en la formación y modelado del hueso, que lleva a una excesiva acumulación ósea con un aumento de la densidad (esclero-sis). Existen varios tipos y todos ellos son de origen genético. Presentamos el caso de una paciente de 37 años que llega a la consulta sin diagnóstico previo, por dolor en miembros inferiores de larga evolución con reagudizaciones, asociado a deformidad e impotencia funcional, que cedía parcialmente con analgésicos comunes. (AU)


Bone sclerosing dysplasia is an affectation of the intrinsic development of the skeleton by an alteration in bone formation and modeling. It causes excessive bone accumulation with an increase in density (sclerosis). There are several types of bone sclerosing dysplasia. They are of genetic origin. We report here a 37 year-old patient without a previous diagnosis of sclerosing bone dysplasia who was seen in the clinic for pain in the lower limbs associated with bone deformity with only partial response to analgesics. (AU)


Subject(s)
Humans , Female , Adult , Bone Diseases, Developmental/diagnostic imaging , Melorheostosis/diagnostic imaging , Magnetic Resonance Imaging , Radiography , Tomography, Spiral Computed , Pain Management , Hip/pathology , Leg/pathology
11.
In. Coto Hermosilla, Cecilia. Reumatología pediátrica. Segunda edición. La Habana, Editorial Ciencias Médicas, 2 ed; 2020. , ilus, tab.
Monography in Spanish | CUMED | ID: cum-76442

Subject(s)
Child , Hip/pathology
14.
Archiv. med. fam. gen. (En línea) ; 16(2): 4-10, nov 2019. tab, ilus
Article in Spanish | LILACS, InstitutionalDB, BINACIS, UNISALUD | ID: biblio-1343052

ABSTRACT

OBJETIVOS: Describir la evolución de una cohorte de pacientes con sindrome de disfunción dolorosa del trocánter mayor tratados con proloterapia. MÉTODOS: 30 pacientes con dolor crónico recibieron una mediana de 3,5 inyecciones de dextrosa al 12,5% y lidocaina al 0,5% en la entesis de los músculos que se insertan en el trocanter mayor. Fueron evaluados sus cambios en el dolor mediante una escala analógica visual (EAV) y en la calidad de vida, a través del puntaje Euro Quol 5D. RESULTADOS: A los seis meses de la primera inyección se constató una reducción media del dolor de 5,45 (IC 95% 4,55 a 6,34) puntos de la EAV, desde una media basal de 8,01 (5 a 10) a una media a los seis meses de 2,56 (1 a 7); y una mejoría de la calidad de vida desde 0,401 a 0,891 puntos en la escala Euro Quol 5D. No se observaron efectos adversos. CONCLUSIÓN: Los pacientes con sindrome de disfunción dolorosa del trocánter mayor tratados con proloterapia evolucionaron con una reducción en su nivel de dolor y una mejoría en su calidad (AU)


OBJECTIVES: To describe the evolution of a cohort of patients with a major trochanter dysfunction pain syndrome treated with prolotherapy. METHODS: 30 patients with chronic pain received a median of 3.5 injections of 12.5% dextrose and 0.5% lidocaine in the entesis of the muscles that are inserted into the greater trocanter. Their changes in pain were assessed using a visual analogue scale (VAS) and quality of life, through the Euro Quol 5D score. RESULTS: Six months after the first injection, a mean pain reduction of 5.45 (95% CI 4.55 to 6.34) VAS points was observed, from a baseline average of 8.01 (5 to 10 ) to an average of 2.56 (1 to 7) at six-month; and an improvement in the quality of life from 0.401 to 0.891 points on the Euro Quol 5D scale. No adverse effects were observed. CONCLUSION: Patients with major trochanter dysfunction pain syndrome treated with prolotherapy evolved with a reduction in their level of pain and an improvement in their quality of life (AU)


Subject(s)
Humans , Female , Middle Aged , Aged , Femur/drug effects , Prolotherapy , Glucose/therapeutic use , Pain , Hip/pathology
17.
Rev. méd. Hosp. José Carrasco Arteaga ; 10(2): 175-178, Jul 2018. Imagenes
Article in Spanish | LILACS | ID: biblio-1000418

ABSTRACT

INTRODUCCIÓN: La epifisiólisis de la cabeza femoral es el desplazamiento de la epífisis con respecto a la metáfisis, en dirección anterosuperior; su etiología es desconocida, frecuente en adolescentes, periodo peripuberal, y con índice de masa corporal elevado, edad promedio entre 12 y 18 años. Su incidencia es variable, 0.2 (Japón) a 10 (Estados Unidos) por 100 000 habitantes. Se caracteriza por dolor progresivo en cadera, con irradiación a la ingle o rodilla, se asocia a cojera; con la detección precoz se puede instaurar un tratamiento adecuado, el más aceptado es la fijación in situ con tornillos centrales. CASO CLÍNICO: Paciente de sexo femenino 14 años de edad sin antecedentes patológicos, acudió al servicio de ortopedia infantil por presentar dolor lancinante crónico de cadera derecha de nueve meses de evolución que aumenta con la deambulación, diagnosticada por clínica y exámenes complementarios de imagen de epifisiólisis de cabeza femoral. Se realizó luxación quirúrgica de la cadera y reducción abierta anatómica con colocación de tornillos esponjosos. EVOLUCIÓN: Al tercer día de la cirugía, se decide alta hospitalaria; deambulación con muletas y sin apoyo durante un mes posquirúrgico. La osteosíntesis permaneció durante un año con controles mensuales y fisioterapia correspondiente; se ha evidenciado evolución favorable; arcos de movilidad de cadera conservados, deambulación normal, sin complicaciones. CONCLUSIÓN: El tratamiento inicial de un paciente con epifisiólisis de cabeza femoral estable depende del tiempo de evolución y se realiza fijando con tornillos o agujas mediante la luxación anatómica de la cadera y osteoplastia de remodelación del cuello femoral. La mayoría de los pacientes no desarrollan necrosis ni condrolisis y los resultados a largo plazo con la fijación in situ suelen ser excelentes, a diferencia de los pacientes con diagnóstico tardío.


BACKGROUND: The epiphysiolysis of the femoral head is the displacement of the epiphysis with respect to the metaphysis, in anterosuperior direction; it is etiology is unknown, frequent in adolescents, peripubertal period, and with high body mass index, average age between 12 and 18 years. It is incidence is variable, 0.2 (Japan) to 10 (United States) per 100 000 inhabitants. It is characterized by progressive pain in the hip, with irradiation to the groin or knee, is associated with lameness; with the early detection, an adequate treatment can be established, the most accepted one is the in situ fixation with central screws. CASE REPORT: A 14-year-old female patient with no pathological history attended the Children's Orthopedic Service due to the chronic lancinating pain of the right hip, which increases with walking, it is diagnosed by clinical examination and complementary exams of femoral head epiphysiolysis. Surgical dislocation of the hip and anatomical open reduction with placement of spongy screws was performed. EVOLUTION: On the third day of surgery, hospital discharge is decided; walking with crutches and without support during a postoperative month. The osteosynthesis remained for a year with monthly controls and corresponding physiotherapy; it has been evidenced favorable evolution; hip mobility arches preserved, normal ambulation, without complications CONCLUSIONS: The initial treatment of a patient with epiphysiolysis of stable femoral head depends on the evolution time and is done by fixing with screws or needles with of anatomical dislocation of the hip and osteoplasty of femoral neck remodeling. Most patients do not develop necrosis or chondro- lysis and long-term results with in situ fixation are usually excellent, unlike patients with late diagnosis.


Subject(s)
Humans , Female , Case Management , Epiphyses, Slipped/surgery , Femoracetabular Impingement/diagnosis , Hip/pathology
18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-941757

ABSTRACT

In this study, we reported a case of progressive pseudorheumatoid dysplasia in Peking University Third Hospital. A 56-year-old male patient presented with hip joint pain for more than 40 years and multiple joints pain with limitation of movements of these joints for 28 years. This patient suffered from joint pain and impaired range of motion of the hip, knee, elbow and shoulder gradually, associated with difficulty in walking and inability to take care of himself. He was diagnosed with "femoral head necrosis" or "ankylosing spondylitis" in local hospitals, but the treatment of nonsteroidal antiinflammatory drugs (NSAIDs) and sulfasalazine was not effective. Up to the age of 14, the patient displayed normal physical development, with the highest height was about 158 cm, according to the patient recall. However, his height was 153 cm at present. There was no history of similar illness in any family member. Physical examinations descried limitation of movement of almost all joints. Enlargement and flexion deformity of the proximal interphalangeal (PIP) joints of the hands resulted in the claw hand appearance. Limited abduction and internal and external rotation of the shoulder and hip could be find. He had normal laboratory findings for blood routine test, biochemical indexes and acute phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Furthermore, HLA-B27 and autoimmune antibodies such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibody and antinuclear antibody (ANA) were all negative. X-ray of the hip showed loss of the joint space and irregularities of the femoral head, both femoral head were flattened, it could be see hyperplasia, osteophytes, bilateral femoral neck thicken, neck dry angle turned smaller. The radiological findings of the spinal vertebra indicated kyphosis deformity, narrowing of the intervertebral discs, vertebral syndesmophytes and flattening of the vertebra. However, there was no clues of bone marrow edema in the lumbar MRI. At last, genetic testing for the Wnt1-inducible signaling pathway protein 3 (WISP3) gene was done and indicated compound heterozygous mutations: 756C>G and c.866dupA. These two mutations were derived from the patient's mother and father (the patient's parents each had a heterozygous mutation). Two exons of the WISP3 gene had nucleotide changes leading to amino acid mutations. According to the patient's history, symptoms, physical examinations, radiological findings and genetic testing, the final definitive diagnosis was progressive pseudorheumatic dysplasia.


Subject(s)
Humans , Male , Middle Aged , Cerebral Palsy , Heterozygote , Hip/pathology , Joint Diseases/etiology , Microcephaly , Spondylitis, Ankylosing/diagnosis
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