RESUMO
Bilateral congenital knee dislocation is a rare deformity which may present with other musculoskeletal abnormalities. In the early period, conservative treatment options have a high chance of success. However, in later stages, surgical treatment is indicated in neglected or unresponsive cases to manipulation in the early period. Herein, we present a rare case of bilateral congenital knee dislocation which was diagnosed after birth. Retrospective examination revealed that it occurred in the antenatal period and neglected.
Assuntos
Luxação do Joelho/congênito , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Feminino , Humanos , Recém-Nascido , Luxação do Joelho/diagnóstico , Luxação do Joelho/diagnóstico por imagem , Deformidades Congênitas das Extremidades Inferiores/diagnóstico por imagem , Gravidez , TurquiaRESUMO
BACKGROUND: Patients with congenital fibular deficiency often develop genu valgum secondary to lateral femoral condylar hypoplasia. Guided growth strategies are often performed to correct limb alignment when adequate skeletal growth remains. METHODS: A retrospective review of patients with postaxial hypoplasia of the lower extremity managed with an amputation strategy and who had a guided growth procedure for coronal plane limb malalignment during their course of treatment was performed. Clinical and radiographic data, including measures of coronal plane deformity and alignment, type of amputation, subsequent operative procedures, and complications were recorded. RESULTS: Seventeen patients (20 extremities) met study inclusion criteria (mean follow-up 8.8 y). Foot ablation and hemiepiphysiodesis for valgus deformity of the knee was performed in all extremities. The average age at the time of initial hemiepiphysiodesis was 11.2 years at an average of 8.8 years from the initial amputation procedure. The mean preoperative mechanical axis deviation was 26.5 mm, which was corrected to a mean mechanical axis deviation of 7.0 mm. Fifteen (75%) of the extremities had correction of the deformity to neutral alignment after the initial procedure. Lack of correction occurred in 3 extremities, and overcorrection occurred in 2 extremities. Additional procedures were required in 5 extremities for rebound valgus deformity after hardware removal. CONCLUSIONS: In patients with postaxial hypoplasia, regular monitoring of the residual limb for growth-related changes must occur to ensure optimal function and prosthetic fit. Timing of the guided growth procedure is critical, as younger patients may be more likely to experience rebound deformity. Families and patients should be made aware that growth might be unpredictable in this population with risks of both overcorrection and undercorrection. LEVEL OF EVIDENCE: Level IV-case series.
Assuntos
Fêmur/cirurgia , Fíbula/anormalidades , Geno Valgo , Articulação do Joelho , Deformidades Congênitas das Extremidades Inferiores , Procedimentos Ortopédicos , Mau Alinhamento Ósseo/etiologia , Mau Alinhamento Ósseo/cirurgia , Criança , Desenvolvimento Infantil , Feminino , Fêmur/patologia , Geno Valgo/etiologia , Geno Valgo/cirurgia , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/fisiopatologia , Articulação do Joelho/cirurgia , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Masculino , Procedimentos Ortopédicos/efeitos adversos , Procedimentos Ortopédicos/métodos , Avaliação de Processos e Resultados em Cuidados de Saúde , Recidiva , Reoperação/estatística & dados numéricos , Estudos RetrospectivosAssuntos
Ossos do Carpo/anormalidades , Deformidades Congênitas dos Membros/diagnóstico por imagem , Rádio (Anatomia)/anormalidades , Polegar/anormalidades , Anormalidades Induzidas por Medicamentos/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Canal Anal/anormalidades , Ossos do Carpo/diagnóstico por imagem , Amostra da Vilosidade Coriônica , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Diagnóstico Diferencial , Esôfago/anormalidades , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/genética , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/genética , Análise em Microsséries , Gravidez , Rádio (Anatomia)/diagnóstico por imagem , Coluna Vertebral/anormalidades , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Polegar/diagnóstico por imagem , Traqueia/anormalidades , Síndrome da Trissomia do Cromossomo 13/complicações , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/complicações , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal , Deformidades Congênitas das Extremidades Superiores/complicaçõesAssuntos
Anormalidades Múltiplas/diagnóstico , Diagnóstico Tardio , Gerenciamento Clínico , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Programas de Rastreamento/normas , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Adulto , Feminino , Cardiopatias Congênitas/fisiopatologia , Comunicação Interatrial/fisiopatologia , Humanos , Recém-Nascido , Deformidades Congênitas das Extremidades Inferiores/fisiopatologia , Programas de Rastreamento/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Radiografia/métodos , Proteínas com Domínio T/genética , Deformidades Congênitas das Extremidades Superiores/fisiopatologiaRESUMO
INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. CASE REPORT: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. CONCLUSION: To the best of our knowledge association of Holt-Oram syndrome with Crohn's disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn's disease remains to be determined.
Assuntos
Anormalidades Múltiplas/cirurgia , Doença de Crohn/etiologia , Doença de Crohn/terapia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Comunicação Interatrial/complicações , Comunicação Interatrial/cirurgia , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/cirurgia , Doenças Raras/cirurgia , Deformidades Congênitas das Extremidades Superiores/complicações , Deformidades Congênitas das Extremidades Superiores/cirurgia , Anormalidades Múltiplas/diagnóstico , Adulto , Doença de Crohn/diagnóstico , Feminino , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Humanos , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Doenças Raras/diagnóstico , Resultado do Tratamento , Deformidades Congênitas das Extremidades Superiores/diagnósticoRESUMO
BACKGROUND: Congenital limb deficiency is a rare and intractable disease, which impairs both function and appearance of the limbs. To establish adequate medical care, it is necessary to reveal the actual conditions and problems associated with this disease. However, there have been no extensive epidemiological surveys in Japan addressing this disease. This is the first nationwide epidemiological survey of congenital limb deficiency in this country. METHODS: With the cooperation of epidemiology experts, we performed a two-stage nationwide survey to estimate the number of patients with congenital limb deficiency and reveal basic patient features. We targeted orthopaedic surgery, paediatric, and plastic surgery departments. Hospitals were categorized according to the institution type and the number of hospital beds; hospitals were randomly selected from these categories. We selected 2283 departments from a total 7825 departments throughout Japan. In this study, we defined congenital limb deficiency as partial or total absence of the limbs, proximal to the proximal interphalangeal joint of the fingers/lesser toes or interphalangeal joint of the thumb/great toe. We distributed the first survey querying the number of initial patient visits from January 2014 to December 2015. Targets of the second survey were departments that reported one or more initial patient visits in the first survey. RESULTS: In the first survey, 1767 departments responded (response rate: 77.4%). Among them, 161 departments reported one or more initial patient visits. We conducted the second survey among these 161 departments, of which 96 departments responded (response rate: 59.6%). The estimated number of initial visits by patients with congenital limb deficiency was 417 (95% confidence interval: 339-495) per year in 2014 and 2015. The estimated prevalence of congenital limb deficiency in Japan was 4.15 (95% confidence interval: 3.37-4.93) per 10,000 live births. The sex ratio was 1.40. Upper limbs were more affected than lower limbs. CONCLUSIONS: We revealed the estimated number of initial patient visits per year and birth prevalence of congenital limb deficiency in Japan. Our results will contribute to establishing the disease concept and grades of severity of congenital limb deficiency.
Assuntos
Deformidades Congênitas das Extremidades Inferiores/epidemiologia , Deformidades Congênitas das Extremidades Superiores/epidemiologia , Distribuição por Idade , Criança , Pré-Escolar , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Lactente , Recém-Nascido , Japão/epidemiologia , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/cirurgia , Masculino , Prevalência , Distribuição por Sexo , Fatores de Tempo , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Deformidades Congênitas das Extremidades Superiores/cirurgiaRESUMO
Growing children are susceptible to a number of disorders to their lower extremities of varying degrees of severity. The diagnosis and management of these conditions can be challenging. With musculoskeletal symptoms being one of the leading reasons for visits to general practitioners, a working knowledge of the basics of these disorders can help in the appropriate diagnosis, treatment, counselling, and specialist referral. This review covers common disorders affecting the hip, the knee and the foot. The aim is to assist general practitioners in recognising developmental norms and differentiating physiological from pathological conditions and to identify when a specialist referral is necessary.
Assuntos
Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Criança , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/terapia , Geno Valgo , Genu Varum , Luxação Congênita de Quadril/diagnóstico , Luxação Congênita de Quadril/terapia , Humanos , Doença de Legg-Calve-Perthes/diagnóstico , Doença de Legg-Calve-Perthes/terapia , Deformidades Congênitas das Extremidades Inferiores/terapia , Osteocondrite Dissecante/diagnóstico , Osteocondrite Dissecante/terapia , Osteocondrose/diagnóstico , Osteocondrose/terapia , Escorregamento das Epífises Proximais do Fêmur/diagnóstico , Escorregamento das Epífises Proximais do Fêmur/terapiaRESUMO
Leg and foot problems in childhood are common causes of parental concern. Rotational problems include intoeing and out-toeing. Intoeing is most common in infants and young children. Intoeing is caused by metatarsus adductus, internal tibial torsion, and femoral anteversion. Out-toeing is less common than intoeing and occurs more often in older children. Out-toeing is caused by external tibial torsion and femoral retroversion. Angular problems include genu varum (bowleg) and genu valgum (knock knee). With pes planus (flatfoot), the arch of the foot is usually flexible rather than rigid. A history and physical examination that include torsional profile tests and angular measurements are usually sufficient to evaluate patients with lower extremity abnormalities. Most children who present with lower extremity problems have normal rotational and angular findings (i.e., within two standard deviations of the mean). Lower extremity abnormalities that are within normal measurements resolve spontaneously as the child grows. Radiologic studies are not routinely required, except to exclude pathologic conditions. Orthotics are not beneficial. Orthopedic referral is often not necessary. Rarely, surgery is required in patients older than eight years who have severe deformities that cause dysfunction.
Assuntos
Marcha/fisiologia , Deformidades Congênitas das Extremidades Inferiores/terapia , Dispositivos de Fixação Ortopédica/normas , Exame Físico/normas , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Exame Físico/métodos , Encaminhamento e Consulta , Sapatos/normasRESUMO
PURPOSE: Since parameters of the parallel external fixator are difficult to measure and calculate in real applications, this study developed computer software that can help the doctor measure parameters using digital technology and generate an electronic prescription for deformity correction. METHODS: According to Paley's deformity measurement method, we provided digital measurement techniques. In addition, we proposed an deformity correction algorithm to calculate the elongations of the six struts and developed a electronic prescription software. At the same time, a three-dimensional simulation of the parallel external fixator and deformed fragment was made using virtual reality modeling language technology. From 2013 to 2015, fifteen patients with complex lower limb deformity were treated with parallel external fixators and the self-developed computer software. All of the cases had unilateral limb deformity. The deformities were caused by old osteomyelitis in nine cases and traumatic sequelae in six cases. A doctor measured the related angulation, displacement and rotation on postoperative radiographs using the digital measurement techniques. Measurement data were input into the electronic prescription software to calculate the daily adjustment elongations of the struts. Daily strut adjustments were conducted according to the data calculated. The frame was removed when expected results were achieved. Patients lived independently during the adjustment. RESULTS: The mean follow-up was 15 months (range 10-22 months). The duration of frame fixation from the time of application to the time of removal averaged 8.4 months (range 2.5-13.1 months). All patients were satisfied with the corrected limb alignment. No cases of wound infections or complications occurred. CONCLUSIONS: Using the computer-aided parallel external fixator for the correction of lower limb deformities can achieve satisfactory outcomes. The correction process can be simplified and is precise and digitized, which will greatly improve the treatment in a clinical application.
Assuntos
Fixadores Externos , Deformidades Congênitas das Extremidades Inferiores/cirurgia , Procedimentos Ortopédicos/métodos , Cirurgia Assistida por Computador/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Desenho de Equipamento , Feminino , Humanos , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Masculino , Adulto JovemRESUMO
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations. He was born with complete bilateral cleft lip and complete cleft palate on the left side and incomplete cleft palate on the right side and syngnathia with 4 fibrous bands between the mandibular arch and the maxilla arch on the right side, which affected the opening of the mouth. The case of our patient is very interesting because there have been few reported patients affected by popliteal pterygium syndrome with syngnathia.
Assuntos
Anormalidades Múltiplas/diagnóstico , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Anormalidades do Olho/diagnóstico , Dedos/anormalidades , Articulação do Joelho/anormalidades , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Mandíbula/anormalidades , Maxila/anormalidades , Sindactilia/diagnóstico , Anormalidades Urogenitais/diagnóstico , Humanos , Lactente , MasculinoRESUMO
We herein report a rare case of LUMBAR syndrome. A 1-month-old female infant presented with extensive segmental hemangiomas on the left lower extremity, left perineum and gluteal region with ulceration. Bilateral labia minoras were asymmetrical. Both legs were asymmetrical with left leg atrophy, and the intergluteal cleft was deviated. A dark red pustule and a sacrococcygeal dimple could be seen in the lumbosacral region. Lipomyelomeningocele, tethered cord and sacrum dysplasia were noted by magnetic resonance imaging. The patient was found to have an absent left kidney at 32 weeks of pregnancy. Eventually, we draw the diagnosis of LUMBAR syndrome. In addition, we discuss the clinical manifestation, diagnosis, treatment and pathogenesis by a review of published work.
Assuntos
Anormalidades Múltiplas/diagnóstico , Hemangioma/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Meningomielocele/diagnóstico , Doenças Raras/diagnóstico , Neoplasias Cutâneas/diagnóstico , Úlcera Cutânea/diagnóstico , Rim Único/diagnóstico , Anormalidades Múltiplas/patologia , Antagonistas Adrenérgicos beta/uso terapêutico , Biópsia , Nádegas/anormalidades , Feminino , Hemangioma/tratamento farmacológico , Hemangioma/patologia , Humanos , Lactente , Extremidade Inferior , Deformidades Congênitas das Extremidades Inferiores/patologia , Imageamento por Ressonância Magnética/métodos , Meningomielocele/patologia , Períneo/anormalidades , Diagnóstico Pré-Natal , Propranolol/uso terapêutico , Doenças Raras/tratamento farmacológico , Doenças Raras/patologia , Sacro/anormalidades , Anormalidades da Pele/patologia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia , Úlcera Cutânea/tratamento farmacológico , Úlcera Cutânea/patologia , Rim Único/patologia , SíndromeRESUMO
BACKGROUND: The purpose of this study was to determine the feasibility of single-stage resection for type II congenital constriction rings by means of histologic examination of resected specimens and imaging examination of affected extremities, and to evaluate the appearance and function of the extremities after single-stage surgery. METHODS: The features of the skin on the constriction rings and the subcutaneous tissues were identified through continuous sectioning, hematoxylin and eosin staining, and immunohistologic staining of specimens of type II constriction rings obtained by means of surgery. The relationship between the constriction rings and the deep main blood vessels was evaluated using magnetic resonance imaging. Single-stage resection of the constriction band, reduction of the fascial flap, and triangular flap-plasty were performed for 21 patients. The appearance, lymphedema, and movement of the extremities were compared before and after the operation. RESULTS: Type II constriction rings in the extremities had normal full-layer skin structures. Collagen was found deposited densely at the base of the grooves, but the normal subcutaneous tissue space remained, and the vital nerves and blood vessels were unaffected. Complete resection of the constriction rings was achieved in all 21 patients, and lymphedema subsided 2 months after the operation. No episode of recurrence was found, and limb function was not affected at 26-month follow-up. CONCLUSIONS: Type II congenital constriction rings in limbs possess normal subcutaneous tissue spaces. A single-stage operation, which includes complete resection of the rings, fascial flap reduction, and triangular flap-plasty, could achieve a satisfactory appearance and good function. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.
Assuntos
Síndrome de Bandas Amnióticas/cirurgia , Imageamento por Ressonância Magnética/métodos , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Deformidades Congênitas das Extremidades Superiores/cirurgia , Síndrome de Bandas Amnióticas/diagnóstico , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/cirurgia , Masculino , Estudos Retrospectivos , Fatores de Tempo , Deformidades Congênitas das Extremidades Superiores/diagnósticoRESUMO
Patients with Van der Woude syndrome typically present with cleft lip, cleft lip and palate, or with cleft palate only. In contrast to non-syndromic cleft lip and/or palate, Van der Woude syndrome typically is characterized by bilateral, paramedian lower-lip pits. Popliteal pterygium syndrome shares features with Van der Woude syndrome, but, in addition, is characterized by a popliteal pterygium, genital anomalies, cutaneous syndactyly of the fingers and the toes, and a characteristic pyramidal fold of skin overlying the nail of the hallux. In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. We present a three generation family with tremendous intrafamilial phenotypic variability. The newborn index patient had a diagnosis of Popliteal pterygium syndrome. The mother presented with a classic Van der Woude Syndrome, while the maternal grandfather had Van der Woude Syndrome as well as minor signs of Popliteal pterygium syndrome. In all three affecteds the known pathogenic mutation c.265A>G, p.Lys89Glu in IRF6 was identified. While inter- as well as intra-familial variability has been described in IRF6-related disorders, the occurrence of a typical Van der Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare. © 2016 Wiley Periodicals, Inc.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Cistos/diagnóstico , Cistos/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Dedos/anormalidades , Fatores Reguladores de Interferon/genética , Articulação do Joelho/anormalidades , Lábio/anormalidades , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/genética , Mutação , Fenótipo , Sindactilia/diagnóstico , Sindactilia/genética , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética , Adulto , Alelos , Éxons , Feminino , Estudos de Associação Genética , Heterozigoto , Humanos , Recém-Nascido , Masculino , LinhagemRESUMO
PURPOSE: Hypoplasia of the lateral femoral condyle has been reported in discoid lateral meniscus patients, but associated imaging findings in the axial plane have not been characterized. In this study, we aimed to identify differences in the lateral femoral condyle between patients with discoid lateral meniscus and those with normal menisci using axial MRI images. METHODS: Twenty-three patients (24 knees) with complete discoid lateral meniscus, 43 (45 knees) with incomplete discoid lateral meniscus, and 50 with normal menisci (50 knees) were enrolled and distributed into three groups. Two new angles, posterior lateral condylar angle (PLCA) and posterior medial condylar angle (PMCA), were measured on axial MRI images; the posterior condylar angle (PCA) was also measured. Differences between the three groups in the PLCA, PMCA, PCA, and PLCA/PMCA were analysed. The predictive value of PLCA and PLCA/PMCA for complete discoid lateral meniscus was assessed. RESULTS: In the complete discoid lateral meniscus group, PLCA and PLCA/PMCA were significantly smaller compared with the normal meniscus group and the incomplete discoid lateral meniscus group (P < 0.001). A significantly larger PCA was identified in the complete discoid lateral meniscus group compared with the incomplete discoid lateral meniscus group (P < 0.05) and normal meniscus group (P < 0.05). Both PLCA and PLCA/PMCA showed excellent predictive value for complete discoid lateral meniscus. CONCLUSIONS: Hypoplasia of the posterior lateral femoral condyle is typically seen in patients with complete discoid lateral meniscus. PLCA and PLCA/PMCA can be measured from axial MRI images and used as excellent predictive parameters for complete discoid lateral meniscus. LEVEL OF EVIDENCE: Diagnostic study, Level III.
Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças das Cartilagens/diagnóstico , Fêmur/patologia , Articulação do Joelho/patologia , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Meniscos Tibiais/patologia , Adulto , Doenças das Cartilagens/patologia , Epífises , Feminino , Fêmur/anormalidades , Humanos , Articulação do Joelho/anormalidades , Imageamento por Ressonância Magnética , Masculino , Meniscos Tibiais/anormalidades , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
Congenital limb differences are uncommon birth defects that may go undetected even with prenatal screening ultrasound scans and often go undetected until birth. For children with congenital limb differences, a diagnostic evaluation should be done to rule out syndromes involving other organ systems or known associations. The most common etiology of acquired amputation is trauma. Postamputation complications include pain and terminal bony overgrowth. A multidisciplinary approach to management with the child and family can lead to a successful, functional, and fulfilling life.
Assuntos
Amputação Cirúrgica/reabilitação , Amputação Traumática/reabilitação , Membros Artificiais , Deformidades Congênitas das Extremidades Inferiores/reabilitação , Neoplasias/cirurgia , Deformidades Congênitas das Extremidades Superiores/reabilitação , Amputação Cirúrgica/efeitos adversos , Amputação Traumática/economia , Amputação Traumática/etiologia , Amputação Traumática/prevenção & controle , Criança , Humanos , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Anamnese , Membro Fantasma/tratamento farmacológico , Membro Fantasma/etiologia , Exame Físico , Desenho de Prótese , Deformidades Congênitas das Extremidades Superiores/diagnósticoRESUMO
We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated.
Assuntos
Anormalidades Múltiplas/diagnóstico , Artéria Carótida Interna/anormalidades , Orelha Interna/anormalidades , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Doenças Raras , Medição de Risco , Tomografia Computadorizada por Raios X/métodos , Malformações Vasculares/diagnósticoAssuntos
Anormalidades Múltiplas/diagnóstico , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Anormalidades Múltiplas/genética , Genótipo , Cardiopatias Congênitas/genética , Comunicação Interatrial/genética , Humanos , Deformidades Congênitas das Extremidades Inferiores/genética , Fenótipo , Deformidades Congênitas das Extremidades Superiores/genéticaRESUMO
We report on the case of a young patient with bipartite carpal scaphoid with osteonecrosis of the proximal pole. The important differentiation of this entity to the pseudarthrosis of the scaphoid is discussed.
Assuntos
Anormalidades Múltiplas/diagnóstico , Traumatismos da Mão/diagnóstico , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Osteonecrose/diagnóstico , Pseudoartrose/diagnóstico , Osso Escafoide/lesões , Osso Escafoide/cirurgia , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Artrodese , Artroscopia , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Osteonecrose/cirurgia , Adulto JovemRESUMO
Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely visible using ultrasound. Interestingly, despite the fact that Holt-Oram syndrome is also called atriodigital dysplasia, unexplained right atrial enlargement has not been described in this context in the fetus before. When such a finding is detected, we believe a thorough search for upper limb abnormalities should be carried out and genetic testing for Holt-Oram syndrome should be discussed with the parents.
Assuntos
Anormalidades Múltiplas/diagnóstico , Cardiomegalia/genética , Átrios do Coração/patologia , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Aborto Induzido , Feminino , Feto , Aconselhamento Genético , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/embriologia , Deformidades Congênitas das Extremidades Superiores/genéticaRESUMO
This article reports on two children with congenital unilateral tibial dysplasia with lateral bowing with no associated sagittal plane deformity. In both cases, it is associated with ipsilateral duplication of the hallux. Long-term follow-up of the patients showed spontaneous, almost complete resolution of the bowing without progressing into fracture or pseudoarthrosis. Leg length discrepancy appeared to be the only orthopedic sequela related to this phenomenon.