ABSTRACT
La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y superiores. Conocer este tipo de síndrome orienta a dar mejores diagnósticos y permite el diagnóstico diferencial con patologías más comunes, como la acondroplasia. Se presenta una paciente de 35 años con diagnóstico de síndrome de Grebe desde los 10 años. El síndrome de Grebe tiene una muy baja incidencia; por este motivo, es poco conocido por el cuerpo médico en general y aun menos para los ortopedistas, quienes serán los encargados de tratar a estos pacientes. Nivel de Evidencia: IV
Grebe syndrome is a rare autosomal recessive disorder that belongs to the group of osteochondrodysplasias. Clinically, it is characterized by severe dysmorphism, marked micromelia and deformities of the lower and upper limbs. Recognition of this syndrome allows to give better diagnoses and to establish a differential diagnosis with more common pathologies, such as achondroplasia. We present a 35-year-old woman with diagnosis of Grebe syndrome at the age of 10. Grebe syndrome has a very low incidence; therefore, it is unknown by general physicians and still less by orthopedic surgeons, who will treat these patients. Level of Evidence: IV
Subject(s)
Adult , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/diagnostic imaging , Limb Deformities, Congenital/diagnosis , Musculoskeletal Abnormalities/diagnosisABSTRACT
Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.
Subject(s)
Humans , Male , Child, Preschool , Vascular Malformations/diagnosis , Lipoma/diagnosis , Musculoskeletal Abnormalities/diagnosis , Nevus/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/diagnostic imaging , Magnetic Resonance Imaging , Adipose Tissue/abnormalities , Vascular Malformations/diagnostic imaging , Photograph , Lipoma/diagnostic imaging , Musculoskeletal Abnormalities/diagnostic imaging , Nevus/diagnostic imagingABSTRACT
Although the accessories muscles are part of our nature, to recognize them allows us to avoid confusion with other pathologies. Even some accessories wrist muscles may be symptomatic and require surgical intervention. In this paper we present the anatomy and imaging aspects of ultrasound and magnetic resonance imaging of these muscles, so that the radiologist can become familiar with them, avoiding unnecessary interventions or diagnostic errors.
Si bien los músculos accesorios son parte de nuestra naturaleza, el saber reconocerlos nos permite evitar confusiones con otras entidades patológicas. Incluso algunos músculos accesorios en la muñeca pueden ser sintomáticos y requerir intervención quirúrgica. En este trabajo exponemos la anatomía y aspectos imaginológicos en ultrasonido y resonancia magnética de dichos músculos, para que el radiólogo esté familiarizado con ellos, evitando errores diagnóstico o intervenciones innecesarias.
Subject(s)
Humans , Ultrasonography , Musculoskeletal Abnormalities/diagnosis , Magnetic Resonance Imaging , Wrist/abnormalities , Anatomic VariationABSTRACT
Las anomalías congénitas en conjunto con la restricción del crecimiento intrauterino dan cuenta del 50 a 60 por ciento de la mortalidad fetal. En este artículo se describen las malformaciones congénitas más importantes divididas por sistemas, la mayoría son diagnosticables a través del ultrasonido; sin embargo, hay un grupo de ellas que no son posibles de diagnosticar, otras que se desarrollan tardíamente en el embarazo y finalmente existen casos en que el examen ultrasonográfico puede sugerir una anormalidad inexistente. También se profundiza en la incidencia, etiología y factores de riesgo de las malformaciones congénitas, se describe la importancia y características del diagnóstico prenatal y de la prevención por medio de la suplementación de ácido fólico en la dieta.
Congenital anomalies in conjunction with intrauterine growth restriction account for 50-60 percent of fetal mortality. This article describes major birth defects by systems; most can be diagnosed by ultrasound while others cannot. Some anomalies develop later in pregnancy and in some cases sonographic examination may suggest the presence of a nonexistent abnormality. Incidence, etiology and risk factors of congenital malformations are described, as well as the importance and characteristics of prenatal diagnosis and prevention through folic acid supplementation in the diet.
Subject(s)
Humans , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Abdomen/abnormalities , Congenital Abnormalities/etiology , Congenital Abnormalities/prevention & control , Musculoskeletal Abnormalities/diagnosis , Incidence , Nervous System Malformations/diagnosis , Prenatal Diagnosis , Risk Factors , Thorax/abnormalitiesABSTRACT
El síndrome VACTERL-H es un trastorno complejo de malformaciones congénitas que implica vértebras, ano, corazón, tráquea, esófago, riñones, extremidades (del inglés limbs) e hidrocefalia. Su etiología se ha identificado sólo en algunos pacientes debido, en gran medida, a su naturaleza esporádica, así como a su alto grado de heterogeneidad clínica. En este informe se presenta a un neonato con el síndrome VACTERL-H, al que se asocian anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso, que se comparan con las descritas en la bibliografía médica. Según nuestra experiencia, esta presentación no sólo amplía el conocimiento del espectro de anomalías que se puede presentar en el síndrome VACTERL-H, sino que también podría ser útil en la identificación de pacientes con este fenotipo heterogéneo.
VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.
Subject(s)
Humans , Infant, Newborn , Male , Abnormalities, Multiple/diagnosis , Cardiovascular Abnormalities/diagnosis , Digestive System Abnormalities/diagnosis , Genetic Diseases, X-Linked/diagnosis , Hydrocephalus/diagnosis , Musculoskeletal Abnormalities/diagnosis , Fatal Outcome , PhenotypeABSTRACT
CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos articulares, favorecendo a hipermobilidade articular e redução na contenção do crescimento ósseo. OBJETIVOS: Avaliar as medidas antropométricas, alterações musculoesqueléticas e a frequência do tratamento fisioterapêutico nos pacientes com SM. MÉTODOS: Participaram deste estudo 26 pacientes, sendo 17 do gênero feminino, com idade de 13,23±2,77 anos, massa corpórea de 51,5±24-68 Kg, altura de 1,70±1,40-1,81 m e envergadura de 1,73±0,12 cm, e nove do gênero masculino, com idade de 14,44±2,18, massa corpórea de 61,0±42-72 Kg, altura de 1,83±1,66-1,97 m e envergadura de 1,93±0,13. Foram obtidas medidas antropométricas, alterações ME de forma padronizada, sendo o pectus e a escoliose, por avaliação radiológica, e a angulação (â) da curva escoliótica, pelo método de Cobb; a aracnodactilia, pelo sinal do polegar e teste de Walker-Murdoch, e a dolicostenomelia, pela envergadura em relação à altura. Os pacientes responderam a um questionário quanto à participação em tratamento de fisioterapia. RESULTADOS: Quando comparados com a estimativa brasileira, a massa corpórea e a altura apresentaram valores maiores no gênero feminino (p=0,001 e p<0,0005) e masculino (p=0,019 e p=0,0001). Das alterações musculoesqueléticas, encontrou-se pectus em 3 (11 por cento), pectus e escoliose em 19 (73 por cento), dolicostenomelia em 11 (42 por cento) e aracnodactilia em 21(80 por cento). Onze (42 por cento) pacientes com SM já haviam realizado tratamento de fisioterapia. CONCLUSÕES: As alterações antropométricas e musculoesqueléticas estão presentes na SM, e o tratamento fisioterapêutico é pouco frequente.
BACKGROUND: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones. OBJECTIVES: The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS. METHODS: Twenty-six patients were included in this study [17 females (age: 13.23±2.77 years; body mass 51.5±24-68 Kg; height 1.70±1.40-1.81 m; arm span: 1.73±0.12 m) and 9 males (age: 14.44±2.18; body mass: 61.0±42-72 Kg; height: 1.83±1.66-1.97 m; arm span: 1.93±0.13 m)]. Anthropometric measurements and musculoskeletal abnormalities were determined in a standardized fashion: pectus and scoliosis were assessed through radiography and angulation (â) of the scoliosis curve using the Cobb method; arachnodactyly was assessed through the thumb sign and Walker-Murdoch test and dolichostenomelia was assessed by arm span in relation to height. Patients also responded to a questionnaire addressing participation in physical therapy. RESULTS: In comparison to values estimated for the Brazilian population, mass and height were greater among the patients with MS (females: p=0.001 e p<0.0005 e males p=0.019 e p=0.0001, respectively). The following musculoskeletal abnormalities were found: pectus in 3 patients (11 percent), pectus and scoliosis in 19 (73 percent), dolichostenomelia in 11 (42 percent) and arachnodactyly in 21 (80 percent). Eleven patients (42 percent) with MS had previously undergone physical therapy. CONCLUSIONS: Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.
Subject(s)
Adolescent , Female , Humans , Male , Anthropometry , Marfan Syndrome/diagnosis , Musculoskeletal Abnormalities/diagnosis , Cross-Sectional Studies , Marfan Syndrome/therapy , Physical Therapy ModalitiesABSTRACT
O lúpus eritematoso sistêmico é uma doença autoimune que envolve múltiplos sistemas orgânicos. O acometimento musculoesquelético é uma das manifestações mais comuns da doença, com envolvimento ósseo, articular, muscular, tendíneo e ligamentar, tanto primário como relacionado ao tratamento instituído. Neste artigo revisamos e ilustramos as alterações articulares e complicações musculoesqueléticas mais comuns relacionadas a esta doença.
Systemic lupus erythematosus is an autoimmune disease involving multiple organ systems. Musculoskeletal involvement is one of the most frequent presentations of the disease, affecting bones, joints, muscles, tendons and ligaments, either as a primary manifestation or secondary to the treatment of the disease. In the present article, the authors review and illustrate the joint disorders and the most common musculoskeletal abnormalities seen in this disorder.
Subject(s)
Humans , Middle Aged , Musculoskeletal Abnormalities/diagnosis , Lupus Erythematosus, Systemic , Osteonecrosis , Rheumatology , Arthritis , Joint Diseases , Myositis Ossificans/etiology , RadiographyABSTRACT
Patología más frecuente del músculo esternocleidomastoideo durante las primeras semanas de vida, de la que se describen su diagnóstico, y características clínicas y ecográficas.
Subject(s)
Humans , Pregnancy , Infant, Newborn , Female , Musculoskeletal Abnormalities/diagnosis , Musculoskeletal Abnormalities , Diagnostic Imaging , Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases , Fibroma/diagnosis , Fibroma/therapy , FibromaABSTRACT
OBJETIVO: Determinar a prevalência das deformidades congênitas da parede torácica anterior em escolares de 11 a 14 anos. MÉTODOS: Participaram do estudo escolares da rede estadual de ensino da cidade de Manaus (AM). Para a composição de uma amostra estatisticamente significativa, com precisão de 1 por cento e IC95 por cento, foram incluídos 1.332 escolares. A deformidade pectus foi identificada através de exame físico do tórax, e os indivíduos com esta deformidade responderam a um questionário com questões sobre hereditariedade e sintomatologia decorrente da anomalia torácica. RESULTADOS: A idade média dos participantes foi de 11,7 anos. A prevalência da deformidade pectus foi de 1,95 por cento (pectus excavatum: 1,275 por cento; pectus carinatum: 0,675 por cento). Dos 26 escolares com deformidades pectus, 17 (65,4 por cento) tinham pectus excavatum, e 18 (69,2 por cento) eram do sexo masculino. Houve associação com a escoliose em 3 casos (11,5 por cento). História familiar de pectus foi relatada por 17 escolares (65,4 por cento), e 17 (65,4 por cento) relataram dor torácica, dispneia ou palpitações. CONCLUSÕES: A prevalência das deformidades pectus encontrada neste estudo (1,95 por cento) foi inferior àquela de trabalhos em outras regiões do país (3,6-4,9 por cento), porém, superior àquela relatada na literatura (média, 1 por cento).
OBJECTIVE: To determine the prevalence of congenital anterior chest wall deformities in 11- to 14-year-old students. METHODS: Students participating in the study were recruited from public schools in the city of Manaus, Brazil. The statistically significant sample (precision, 1 percent; 95 percent CI) comprised 1,332 students. Pectus deformities were identified by physical examination of the chest, and the individuals with one of these deformities completed a questionnaire regarding heredity and symptoms resulting from the chest abnormality. RESULTS: The mean age of the participants was 11.7 years. The prevalence of pectus abnormalities was 1.95 percent (pectus excavatum: 1.275 percent; pectus carinatum: 0.675 percent). Of the 26 students with a pectus deformity, 17 (65.4 percent) had pectus excavatum, and 18 (69.2 percent) were male. Concomitant scoliosis was observed in 3 cases (11.5 percent). A family history of pectus was reported by 17 students (65.4 percent), and 17 (65.4 percent) reported chest pain, dyspnea or palpitations. CONCLUSIONS: In this study, the prevalence of pectus deformities (1.95 percent) was lower than that reported in other studies conducted in Brazil (3.6-4.9 percent) but was higher than that reported in the literature (mean, 1 percent).
Subject(s)
Adolescent , Child , Female , Humans , Male , Funnel Chest/epidemiology , Musculoskeletal Abnormalities/epidemiology , Thoracic Wall/abnormalities , Brazil/epidemiology , Funnel Chest/diagnosis , Musculoskeletal Abnormalities/classification , Musculoskeletal Abnormalities/diagnosis , Prevalence , Reproducibility of Results , StudentsABSTRACT
Anterior arch of the atlas vertebra is known to exhibit various developmental anomalies. Bony outgrowths, osteophytes, clefts and aplasia of the anterior and posterior arches of the atlas have received special attention by research workers. To the best of our knowledge, not many osteological studies have defined the spicules on the anterior arch of the atlas. The present study describes an abnormal atlas vertebra with 2 spicules on the inferior aspect, 2 additional facets inferior to the superior articular facets and a peculiar facet to the left of the posterior tubercle. These abnormal spicules may cause dysphagia or involve atlanto-occipital movements. Such anomalies may be misinterpreted in routine X rays as a degenerative disease. However, asymptomatic cases remain undetected throughout life. Such anomalies may be important in radiological, clinical, forensic and anthropological studies.
Subject(s)
Cadaver , Cervical Atlas/abnormalities , Humans , Musculoskeletal Abnormalities/diagnosisABSTRACT
Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.
Subject(s)
Bone Diseases, Developmental/congenital , Fatal Outcome , Female , Humans , Infant, Newborn , Male , Musculoskeletal Abnormalities/diagnosis , Ribs/abnormalities , Spine/abnormalitiesABSTRACT
El síndrome de Poland es infrecuente, más aun cuando esta asociado al síndrome de Moebius (15 por ciento), pertenece al grupo de enfermedades raras, una incidencia de 1/7000 a 1/100000 nacidos vivos. La etiopatogenia es desconocida, se plantea una disrupción vascular con disminución de aporte sanguíneo durante la morfogénesis. Se caracteriza por presentar hipoplasia o agenesia del músculo pectoral mayor, simbraquidactilia ipsilateral y afectación de los pares craneales VI y VII, pueden afectarse otros pares craneales. Se trata de un escolar de 9 años, sin antecedentes patológicos; quien desde su nacimiento presenta hipoplasia de pectoral mayor con hipoplasia y ubicación elevada del pezón del lado izquierdo, y simbraquidactilía de mano ipsilateral. También se evidencia parálisis facial y estrabismo convergente derecho; afectación del nervio hipogloso. Las características de presentación difieren en algunos aspectos con lo descrito en la literatura, se presenta del lado izquierdo, cuando en la afectación de Poland un 70 por ciento es del lado derecho. El desarrollo psicomotor no es adecuado; no esta descrito retraso ni alteraciones mentales. Se encontró que en la literatura no relacionan la arteria vertebral con la posible explicación de la asociación Poland-Moebius. En conclusión la mayoría de médicos no conocen sobre este tipo de patología y frecuentemente tardan meses o incluso años en averiguarlo. Un diagnóstico precoz proporcionaría como mínimo unos tratamientos paliativos o acceso a servicios y beneficios necesarios para mejorar la calidad de vida. El manejo debe ser multidisciplinario.
Subject(s)
Humans , Male , Child , Musculoskeletal Abnormalities/diagnosis , Poland Syndrome/pathologyABSTRACT
La división inusual del nervio ciático es bastante infrecuente entre la población general. En este artículo se describe la difurcación anormal del nervio ciático derecho en un paciente adulto masculino, además de la perforación del músculo piriforme por el nervio fibular común.
Subject(s)
Humans , Male , Middle Aged , Musculoskeletal Abnormalities/diagnosis , Sciatic Nerve/abnormalities , Sciatic Nerve/physiopathology , Costa RicaABSTRACT
Allantoic cysts of umbilical cord are very rare. A preterm, low birth weight, male newborn with a new constellation of anomalies, allantoic duct cysts in the umbilical cord and associated perinatally lethal malformations of VACTERL sequence, is reported. In addition, the neonate also had duodenal atresia, patent urachus, obstructive uropathy and bifid scrotum. Association of Allantoic cysts with VACTERL sequence has not been described earlier.
Subject(s)
Abnormalities, Multiple/diagnosis , Duodenum/abnormalities , Fatal Outcome , Humans , Infant, Newborn , Male , Musculoskeletal Abnormalities/diagnosis , Scrotum/abnormalities , Tracheoesophageal Fistula/complications , Urachal Cyst/complications , UrachusABSTRACT
A young patient with right pulmonary agenesis is described. She presented with left pneumonitis and improved with antibiotic therapy. She additionally had absence of right thumb and reduced muscle mass over right side of face. The anomalies may have resulted from an antenatal insult around the fourth week of embryonic development.
Subject(s)
Abnormalities, Multiple/diagnosis , Adult , Anti-Bacterial Agents/administration & dosage , Female , Follow-Up Studies , Humans , India , Lung/abnormalities , Musculoskeletal Abnormalities/diagnosis , Pneumonia/drug therapy , Radiography, Thoracic , Risk Assessment , Tomography, X-Ray ComputedABSTRACT
The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.
Subject(s)
Female , Humans , Pregnancy , Chondrodysplasia Punctata/diagnosis , Fetal Diseases/diagnosis , Musculoskeletal Abnormalities/diagnosis , Osteogenesis Imperfecta/diagnosis , Pregnancy Outcome , Prenatal Diagnosis , Thanatophoric Dysplasia/diagnosis , Ultrasonography, PrenatalABSTRACT
El síndrome de Prunne-Belly se caracterizan por una tríada constituida por deficiencia congénita de la musculatura de la pared abdominal, anormalidades del tracto urinario y criptorquidia bilateral. A ella se agregan malformaciones musculoesqueléticas y viscerales. Se considera que el afecto de este síndrome reside en la placa intermedio/lateral mesodérmica o prominencia genital. Se comunica un caso de síndrome de Prunne-Belly en un neonato que sobrevivió 6 días. Clínicamente presentó abdomen distendido con piel arrugada, megacisto, fístula vesicocutánea con emisión de orina y pie equinovario bilateral. El bebé falleció por insuficiencia renal y respiratoria. En la necropsia se demostró la ausencia de musculatura en la pared abdominal, atresia de la unión vesicouretral, megacisto, dilatación quística de los uréteres, riñones con cambios quísticos y displásicos, criptorquidia bilateral, hipoplasia pulmonar, ciego móvil, pie equinovaro bilateral, pliegue simiano en la mano izquierda y fascies dismórfica con implantación baja de las orejas. Llamaron la atención los cambios coilocitóticos en el epitelio del glande. Fallecio por insuficiencia renal y respiratoria
Subject(s)
Humans , Male , Infant, Newborn , Cryptorchidism/diagnosis , Abdominal Muscles/abnormalities , Urethral Obstruction/congenital , Abnormalities, Multiple/diagnosis , Musculoskeletal Abnormalities/diagnosis , Hydronephrosis/congenital , Urethral Obstruction/diagnosis , Respiratory Distress Syndrome, Newborn/etiologyABSTRACT
Se presenta un caso de RN con duplicación parcial de su extremidad inferior izquierda. La etiología, así como en otros casos reportados es desconocida y podría representar un nuevo síndrome de malformación congénita
Subject(s)
Humans , Male , Infant, Newborn , Musculoskeletal Abnormalities/diagnosis , Leg/abnormalitiesABSTRACT
Las denominadas displasias esqueléticas constituyen un apasionante capítulo dentro de la ciemopatología y cobra inusitado interés desde el mismo momento en que la ultrasonografía perinatal demuestra que un importante número de ellas puede ser diagnosticada antenatalmente. El presente artículo tiene como objeto fundamental el revisar de una manera exhaustiva las malformaciones esqueléticas susceptibles de ser diagnosticadas en el período antenatal y mediante el empleo de los ultrasonidos; el autor hace hincapié sobre los aspectos más resaltantes de cada una de ellas, así como en los datos que son aportados por el método y que al ser integrados permiten tipificar con muy buena aproximación clínica imagenológica el tipo de lesión. Se insiste en la sistematización de la exploración del esqueleto fetal iniciando la misma por el cráneo, para luego continuar con la evaluación del rostro, de la columna, el tórax y las extremidades. Se ilustran con casos propios del autor un importante número de anomalías esqueléticas y se presentan diagramas sectorizados según los diferentes segmentops fetales evaluados, que simplifican el diagnóstico