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1.
J Assoc Physicians India ; 72(6): 103-105, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38881145

RESUMEN

Partial anomalous pulmonary venous connection (PAPVC) is a congenital heart defect in which one or more pulmonary veins drain abnormally into the systemic venous circulation, leading to the development of pulmonary arterial hypertension. It can be supracardiac type, draining into the superior vena cava or right atrium (also called cardiac type) and infracardiac type with drainage into the inferior vena cava (IVC). We present two cases-supracardiac and infracardiac types of PAPVC in this case report.


Asunto(s)
Venas Pulmonares , Síndrome de Cimitarra , Humanos , Síndrome de Cimitarra/diagnóstico , Síndrome de Cimitarra/diagnóstico por imagen , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Adulto , Masculino , Femenino
2.
J Assoc Physicians India ; 72(3): 18-23, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38736111

RESUMEN

OBJECTIVES: To study the utility of chemical shift imaging (CSI) and diffusion-weighted images (DWI)/apparent diffusion coefficient (ADC) maps for the evaluation of solid renal tumors. METHODS: Magnetic resonance imaging (MRI) has an equivalent application as computerized tomography (CT) in the characterization of renal masses. It offers a radiation-free imaging technique and has a better soft tissue contrast than CT. Also, MRI is favored in patients with chronic kidney disease. MRI is useful when findings on CT are equivocal. The role of DWI in characterizing solid renal lesions as malignant is encouraging, and DWI can be particularly useful when gadolinium is contraindicated. CSI is useful in differentiating angiomyolipoma (AML) from clear cell (cc) renal cell carcinoma (RCC). We did a cross-sectional study on 24 patients with solid renal masses. MRI of the upper abdomen (from the dome of the diaphragm to the iliac crest) will be done on an MRI machine in our department (1.5T, ACHIEVA, Phillips medical system) using the torso coil. RESULT: There was no significant association seen in terms of ADC values and histological subtypes (χ2 = 11.222, p = 0.082). In our study, 50% (one out of two) of AML showed a signal drop, whereas 40% of cases (6 out of 15) of ccRCC and 66% (two out of three) of papillary RCC showed a signal drop. CONCLUSION: In this article, we concluded CSI, although a useful tool to look for microscopic fat, can't be used as a reliable marker to rule in cc-carcinoma as both AML and papillary cell carcinoma have microscopic fat. Further, no histological classification can be done on the basis of DWI/ADC images.


Asunto(s)
Carcinoma de Células Renales , Imagen de Difusión por Resonancia Magnética , Neoplasias Renales , Humanos , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Imagen de Difusión por Resonancia Magnética/métodos , Estudios Transversales , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/patología , Femenino , Angiomiolipoma/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Adulto , Anciano
3.
J Assoc Physicians India ; 72(3): 100-104, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38736128

RESUMEN

Paraquat (1,1'-dimethyl-4,4'-dipyridylium) is a liquid herbicide, linked to both accidental and intentional ingestion, which can result in severe and frequently lethal poisoning. It has been known to cause injury to the lungs, kidneys, and liver. We retrospectively reviewed five cases over the last 4 years with a history of paraquat ingestion. The time duration between ingestion and high-resolution computed tomography (HRCT) was assessed. HRCT chest scan was variable, ranging from 4 to 18 days postexposure. The follow-up of the patients was also reviewed.


Asunto(s)
Herbicidas , Paraquat , Tomografía Computarizada por Rayos X , Humanos , Paraquat/envenenamiento , Herbicidas/envenenamiento , Tomografía Computarizada por Rayos X/métodos , Estudios Retrospectivos , Masculino , Adulto , Femenino , Pulmón/diagnóstico por imagen
4.
Gen Dent ; 72(3): 34-40, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38640004

RESUMEN

The majority of problematic conditions resulting from dental implant treatment are inflammatory in character, but certain isolated occurrences of primary oral squamous cell carcinoma (OSCC) have been discovered in the area of implants. The goal of this study was to examine whether there is a link between dental implants and the development of OSCC in patients who have a history of a potentially malignant lesion (PML) or malignancy. Using the keywords "carcinoma" AND "dental implants," a search was conducted in the MEDLINE (PubMed), National Center for Biotechnology Information, and Google Scholar databases for case reports and case series in which OSCC was discovered as a primary cancer in the region of dental implants. An initial search identified 260 articles, 247 of which were excluded based on study inclusion or exclusion criteria, leaving 13 articles chosen for inclusion and a total of 30 patients who developed primary oral cancer surrounding osseointegrated titanium-based dental implants. In the studies included in the present review, 22 (73%) of 30 patients with peri-implant cancer had a history of PML or carcinoma. There is no statistical evidence of a direct association between dental implants and OSCC in patients with a history of a PML or malignant lesion. There have been some case reports of OSCC in the region of dental implants in patients with a history of a PML or malignant lesion, but further studies are needed to prove a definitive relationship.


Asunto(s)
Carcinoma de Células Escamosas , Implantes Dentales , Neoplasias de la Boca , Humanos , Implantes Dentales/efectos adversos , Carcinoma de Células Escamosas/etiología , Carcinoma de Células Escamosas/patología , Neoplasias de la Boca/etiología
5.
J Pediatr Gastroenterol Nutr ; 77(1): 126-130, 2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-36976177

RESUMEN

This study examines the role of trainee involvement with pediatric endoscopic retrograde cholangiopancreatography (ERCP) and whether it affects the procedure's success, post-procedural adverse outcomes, and duration. A secondary analysis of the Pediatric ERCP Database Initiative, an international database, was performed. Consecutive ERCPs on children <19 years of age from 18 centers were entered prospectively into the database. In total 1124 ERCPs were entered into the database, of which 320 (28%) were performed by trainees. The results showed that the presence of trainees did not impact technical success ( P = 0.65) or adverse events rates ( P = 0.43). Rates of post-ERCP pancreatitis, pain, and bleeding were similar between groups ( P > 0.05). Fewer cases involving trainees were in the top quartile (>58 minutes) of procedural time (19% vs 26%; P = 0.02). Overall, our findings indicate trainee involvement in pediatric ERCP is safe.


Asunto(s)
Colangiopancreatografia Retrógrada Endoscópica , Pancreatitis , Niño , Humanos , Colangiopancreatografia Retrógrada Endoscópica/efectos adversos , Colangiopancreatografia Retrógrada Endoscópica/métodos , Pancreatitis/epidemiología , Pancreatitis/etiología , Estudios Retrospectivos
6.
Am J Med Genet A ; 188(3): 788-805, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34863015

RESUMEN

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutational inactivation of a developmental pathway responsible for generation of tissues of ectodermal origin. The X-linked form accounts for the majority of HED cases and is caused by Ectodysplasin (EDA) pathogenic variants. We performed a combined analysis of 29 X-linked hypohidrotic ectodermal dysplasia (XLHED) families (including 12 from our previous studies). In addition to the classical triad of symptoms including loss (or reduction) of ectodermal structures, such as hair, teeth, and sweat glands, we detected additional HED-related clinical features including facial dysmorphism and hyperpigmentation in several patients. Interestingly, global developmental delay was identified as an unusual clinical symptom in many patients. More importantly, we identified 22 causal pathogenic variants that included 15 missense, four small in-dels, and one nonsense, splice site, and large deletion each. Interestingly, we detected 12 unique (India-specific) pathogenic variants. Of the 29 XLHED families analyzed, 11 (38%) harbored pathogenic variant localized to the furin cleavage site. A comparison with HGMD revealed significant differences in the frequency of missense pathogenic variants; involvement of specific exons and/or protein domains and transition/transversion ratios. A significantly higher proportion of missense pathogenic variants (33%) localized to the EDA furin cleavage when compared to HGMD (7%), of which p.R155C, p.R156C, and p.R156H were detected in three families each. Therefore, the first comprehensive analysis of XLHED from India has revealed several unique features including unusual clinical symptoms and high frequency of furin cleavage site pathogenic variants.


Asunto(s)
Displasia Ectodermal Anhidrótica Tipo 1 , Displasia Ectodérmica Hipohidrótica Autosómica Recesiva , Displasia Ectodérmica , Deformidades Congénitas de las Extremidades , Displasia Ectodérmica/genética , Displasia Ectodermal Anhidrótica Tipo 1/diagnóstico , Displasia Ectodermal Anhidrótica Tipo 1/genética , Ectodisplasinas/genética , Furina/genética , Humanos , Linaje
7.
J Anaesthesiol Clin Pharmacol ; 38(2): 288-293, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36171931

RESUMEN

Background and Aims: Effectiveness of oral gabapentin premedication in suppressing response to laryngoscopy and tracheal intubation suggests its potential for attenuating skull pin insertion response. The present study was therefore planned to evaluate the effect of add-on oral gabapentin premedication to local anesthetic injection at pin insertion site in obtunding hemodynamic response. Material and Methods: Sixty adult patients posted for elective craniotomy were enrolled for a prospective, randomized and double-blinded study. Group I patients received gabapentin 900 mg orally as premedication whereas Group II patients received oral placebo. Both groups were administered subcutaneous (s.c.) injection (Inj) 2% lignocaine 2 mL at all four pin insertion sites. Mean arterial pressure (MAP) and heart rate (HR) were measured every 30 s for the initial 10 min. Increases in HR beyond 20% and MAP 30% above baseline were treated with bolus intravenous (IV) Inj propofol 30 mg. Quantitative data was compared using Student's t-test and Mann Whitney U test, while categorical data was compared using Chi-square (χ2) test. Results: The increase in HR and MAP from baseline was significantly greater and it remained above baseline levels longer in Group II as compared to Group I. Twenty-one patients (70%) received rescue boluses of propofol with a mean dose of 45.00 ± 39.98 mg in Group II as compared to nine (30%) patients receiving mean of 18.20 ± 29.04 mg in Group I. (P = 0.015). The mean emergence time and sedation scores in both the groups were statistically similar (P = 0.060).The incidence of adverse effects like hypotension, bradycardia, nausea/vomiting, sedation or dry mouth were similar in both the groups. Conclusion: Add-on oral gabapentin premedication potentiates the effect of s.c. lignocaine Inj for suppression of skull pin insertion response.

8.
J Indian Prosthodont Soc ; 20(2): 153-161, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32655219

RESUMEN

AIM: Growth factors (GFs) are polypeptides, which are intricately involved in the regulation of bone formation, preservation, and regeneration through gene expression. However, the role of these bioactive agents in osseointegration of dental implants has not been substantially proven. The objective of this systematic review (SR) and meta-analysis was to explore the effect of GFs on early osseointegration of dental implants in animal jaws. An attempt to decipher an adjunctive role of GFs in modulating predictable bone growth in peri-implant areas was done. MATERIALS AND METHODS: An electronic and manual search of different databases was performed. Only randomized controlled trials (RCTs) were included and reviewed. The risk of bias (ROB) of the selected studies was assessed using the SR Centre for Laboratory Animal Experimentation (Cochrane) tool. A meta-analysis was also performed to evaluate the different study characteristics quantitatively. STATISTICAL ANALYSIS USED: The total Weighted mean difference was evaluated using the Rev-Manv5.3 algorithm. Chi-square test and I2 test were done to assess the heterogeneity between the studies. RESULTS: Seven RCTs were included in the study. These were associated with a high ROB. The total weighted mean difference (WMD) of the percentage of bone-implant contact was 3.25% (95% confidence interval [CI] = 1.49%-6.03%; P = 0.001; I2 = 91%) between groups with and without exogenous application of GFs. The total WMD of the percentage of newly formed bone area was 4.48% (95% CI = 2.31%-5.90%; P < 0.00001, I2 = 84%). A high level of heterogeneity (P < 0.001 for Chi-square test; I 2>50 %) among comparable studies was observed. CONCLUSION: The ancillary application of external GFs exhibited evidence of early osseointegration, resulting in more predictable and faster results. However, a careful discernment of conclusions drawn from this SR is a must before conducting any human trials.

9.
J Prosthet Dent ; 122(6): 568-572, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31227245

RESUMEN

This clinical report describes the management of the retention of an orbital prosthesis in a patient with uncontrolled diabetes. The patient, who underwent left orbital exenteration subsequent to severe mucormycosis, posed a challenge for implant placement and for use of adhesives as a method of retention because of the high likelihood of reinfection. Inaccessibility to severe anatomic undercuts along with their arbitrary block out would have caused diminished retention. As a result, an orbital prosthesis composed of a digitally produced hollow conformer and traditionally produced silicone prosthesis was provided using 3-dimensional imaging and rapid prototyping, with optimum retention.


Asunto(s)
Implantes Orbitales , Ojo Artificial , Humanos , Evisceración Orbitaria , Diseño de Prótesis , Implantación de Prótesis
11.
J Prosthet Dent ; 116(2): 300-3, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26996933

RESUMEN

Postsurgical injury by teeth to oral mucosa (reconstructed by a flap) can lead to ulceration and subsequent infection at the reconstructed site. A prompt intervention by fabricating a specially designed prosthesis to deflect the reconstruction flap away from the occluding teeth has been described for the treatment of cheek biting in the present clinical report.


Asunto(s)
Mordeduras Humanas/prevención & control , Diseño de Prótesis Dental , Úlceras Bucales/terapia , Anciano , Mordeduras Humanas/complicaciones , Carcinoma de Células Escamosas/cirugía , Mejilla , Edema/etiología , Edema/patología , Humanos , Masculino , Mucosa Bucal/patología , Mucosa Bucal/cirugía , Neoplasias de la Boca/cirugía , Úlceras Bucales/etiología , Colgajos Quirúrgicos , Cicatrización de Heridas
12.
J Prosthodont ; 25(8): 682-686, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26618277

RESUMEN

Dental implants have evolved as a standard of care for replacement of missing teeth. Though this treatment modality promises a high level of patient satisfaction and success, it cannot be performed in all cases. Apart from medically compromised patients, implant use is also restricted whenever there is limited available bone volume at the edentulous site. An example includes the mandibular incisor, the maxillary lateral incisor region, and other sites with reduced interdental spacing and atrophic edentulous maxillary and mandibular ridges. Bone volume at some of these sites can be increased by suitable augmentation procedure for placement of a regular diameter implant (3.75 to 4.2 mm). But many a times such procedure cannot be undertaken either due to financial constraint, risk of subjecting the patient to additional surgical procedure, added time factor, or guarded prognosis of the grafted site. In such cases, mini-implants can be used. In this case series, mini-implants (2.5 to 3 mm) were used to replace teeth in all mouth quadrants and to retain a mandibular overdenture in a compromised case. The implants served well at all the sites with minimal bone loss and a high level of patient satisfaction. Mini-implants hold the potential to serve as an alternate to regular diameter implants in certain situations. Preferably they should be used in multiples to retain fixed dental prostheses and might serve as an efficient, low-cost solution for retaining overdentures in selected cases.


Asunto(s)
Diseño de Prótesis Dental , Prótesis Dental de Soporte Implantado , Pérdida de Hueso Alveolar , Implantación Dental Endoósea , Implantes Dentales , Fracaso de la Restauración Dental , Prótesis de Recubrimiento , Humanos , Satisfacción del Paciente , Resultado del Tratamiento
13.
J Indian Prosthodont Soc ; 16(2): 142-7, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27141163

RESUMEN

BACKGROUND/PURPOSE: The aim of this study was to compare the shear bond strength of computer aided design/computer aided machined ceramic (CAD/CAM), pressable ceramic, and milled metal implant copings on abutment and the effect of surface conditioning on bonding strength. MATERIALS AND METHODS: A total of 90 test samples were fabricated on three titanium abutments. Among 90 test samples, 30 copings were fabricated by CAD/CAM, 30 by pressable, and 30 by milling of titanium metal. These 30 test samples in each group were further subdivided equally for surface treatment. Fifteen out of 30 test samples in each group were surface conditioned with airborne particle abrasion. All the 90 test samples were luted on abutment with glass ionomer cement. Bonding strength was evaluated for all the samples using universal testing machine at a crosshead speed of 5 mm/min. The results obtained were compared and evaluated using one-way ANOVA with post-hoc and unpaired t-test at a significance level of 0.05. RESULTS: The mean difference for CAD/CAM surface conditioned subgroup was 1.28 ± 0.12, for nonconditioned subgroup was 1.20 ± 0.11. The mean difference for pressable surface conditioned subgroup was 1.18 ± 0.04, and for nonconditioned subgroup was 0.75 ± 0.28. The mean difference for milled metal surface conditioned subgroup was 2.57 ± 0.58, and for nonconditioned subgroup was 1.49 ± 0.15. CONCLUSIONS: On comparison of bonding strength, milled metal copings had an edge over the other two materials, and surface conditioning increased the bond strength.

14.
J Indian Prosthodont Soc ; 16(2): 221-6, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27141177

RESUMEN

With the increasing average life expectancy of human beings, the need to cater geriatric patients is ever increasing. Complete dentures are an indispensable tool in this regard. The loose and unstable lower complete denture owing to residual ridge resorption is one of the most common problems faced by edentulous patients. Dental implant retained overdentures have emerged as an efficient treatment modality for such patients. Though useful, not every patient is a suitable candidate to go for conventional implant-borne prosthesis, limitation being the available bone width. In such cases, mini implants may be used for augmenting the retention of the dentures and improving the quality of life of patients. In this case series, rehabilitation of three compromised cases with mini implant retained overdentures have been described wherein patients are experiencing instability of lower denture due to thin resorbed mandibular ridges. In one of the cases, three mini implants placed in A, C, and E position were splinted using a cemented bar to retain the mandibular denture. The other two cases were rehabilitated using unsplinted ball type one piece mini implants placed in A, C, and E position in one case and B and D position in another case. Though splinted bar design should be preferred but the lack of available vertical space precluded the utilization of bar in other two cases. The results were found to be satisfactory with no complications reported during a follow-up period of over 3 years in all the cases.

16.
J Assoc Physicians India ; 63(7): 33-9, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26731825

RESUMEN

AIMS/HYPOTHESIS: To identify risk factors associated with psychological insulin resistance (PIR) in Indian type 2 diabetes (T2DM) population. METHODS: Patients with T2DM, aged 18 years, undergoing treatment with oral hypoglycaemic agents and providing written informed consent were considered eligible for the study. Patient's data was collected by face-to-face interaction using 5 validated diabetes questionnaires--Diabetes Attitude Scale, Diabetes Knowledge Test, Diabetes Self-Efficacy Scale, Interpersonal Processes of Care Survey-29, and Barriers to Insulin Treatment scale. Demographic variables, categories of patients based on their annual family income, education, glycosylated haemoglobin (HbA1c), occupation and type of healthcare setup were correlated with overall scores of validated questionnaires. Statistical analyses were performed using Pearson correlation coefficients, analysis of variance, two-group t-test and hierarchical multiple regression. RESULTS: One hundred ninty-eight patients with T2DM were enrolled where 63% were males, 52% had HbA1c <7% (<53 mmol/mol), 32% were in service, 35% had the annual family income between Rs 100,000-500,000, 50% were graduates and 81% were enrolled from private healthcare set ups. Significant high opposition to use insulin was observed in females, patients based at home, patients with insufficient education, and patients visiting government set-ups compared to males, service-class patients, graduates, and patients approaching private set-ups, respectively. CONCLUSIONS: In India, major factors contributing to PIR were fear of injection or fear of pain during injection, fear of hypoglycemia, social stigma and lack of education. Effective interpersonal interactions with healthcare providers could help to counteract PIR, especially in patients who are not sufficiently literate highlighting the need of skilled healthcare staffs in Indian public hospitals.


Asunto(s)
Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/psicología , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Cumplimiento de la Medicación/psicología , Adulto , Estudios Transversales , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , India , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores Socioeconómicos , Encuestas y Cuestionarios
17.
Indian J Plast Surg ; 48(3): 313-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26933289

RESUMEN

Transport distraction is nowadays gaining enormous popularity and is becoming a promising option for reconstruction of mandibular defects. However, the vast number of distraction device designs create huge confusion in the clinician's mind to choose the right one. Considering these complex and costly designs, the authors decided to find a simplified way of combining a modified conventional reconstruction plate and monofocal distraction device that can act as a transport distraction device for bridging of bony defects. A case performed by this technique and device has been presented along with the description of device design.

18.
J Indian Prosthodont Soc ; 15(1): 23-8, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26929482

RESUMEN

BACKGROUND: Erbium, chromium: Yttrium, scandium, gallium, garnet (Er, Cr: YSGG) laser has been successfully used in the ablation of dental hard and soft tissues. It has been reported that this system is also useful for preparing tooth surfaces and etching, but no consensus exist in the literature regarding the advantage of lasers over conventional tooth preparation technique. MATERIALS AND METHODS: Labial surfaces of 25 extracted human maxillary central incisors were divided into two halves. Right half was prepared with diamond bur and left half with Er, Cr; YSGG laser and a reduction of 0.3-0.5 mm was carried out. Topography of prepared surfaces of five teeth were examined under scanning electron microscope (SEM). The remaining samples were divided into 4 groups of 10 specimens each based on the surface treatment received: One group was acid etched and other was nonetched. Composite resin cylinders were bonded on prepared surfaces and shear bond strength was assessed using a universal testing machine. RESULTS: The SEM observation revealed that the laser prepared surfaces were clean, highly irregular and devoid of a smear layer. Bur prepared surfaces were relatively smooth but covered with smear layer. Highest bond strength was shown by laser prepared acid etched group, followed by bur prepared the acid etched group. The bur prepared nonacid etched group showed least bond strength. CONCLUSIONS: Er, Cr: YSGG laser can be used for preparing tooth and bond strength value achieved by laser preparation alone without surface treatment procedure lies in the range of clinical acceptability.

19.
Am J Med Genet A ; 164A(1): 186-9, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24214579

RESUMEN

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region. Along with HHE syndrome, the patient also had global developmental delay, subtle facial dysmorphism, and preaxial polydactyly. Clinical phenotype of 1q44 microdeletion syndrome is quite variable. Main clinical features are microcephaly, seizures, and abnormality of corpus callosum. We compared the patient's phenotype with other patients in 10 previously published papers of 1q44 microdeletion syndrome. HNRNPU and FAM36A are two important genes in the deleted region. HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient. HHE may be a chance co-occurrence.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 1 , Epilepsia/genética , Hemiplejía/genética , Convulsiones/genética , Encéfalo/patología , Preescolar , Hibridación Genómica Comparativa , Epilepsia/diagnóstico , Facies , Femenino , Deformidades Congénitas del Pie , Hemiplejía/diagnóstico , Humanos , Cariotipo , Imagen por Resonancia Magnética , Fenotipo , Convulsiones/diagnóstico , Síndrome
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