Rare anatomic variation on a 10,000-year-old South American skeleton: the case of Iuzu, Toca dos Coqueiros, Piauí State, Brazil.

PURPOSE: A skeleton named Iuzu has been unearthed from an exceptional middle Holocene burial in Toca dos Coqueiros site, in Serra da Capivara National Park (UNESCO World Heritage Site, Piauí State, Brazil). During a bioarchaeological analysis of its remains, we discovered that Iuzu was suffering from rare vertebral malformations. A double foramen transversaria, the agenesis of a foramen on the atlas and the hypoplasia of the transverse process of the axis have been highlighted. We aimed to deduce the clinical consequences of the malformation on the patient's health. METHODS: We proceeded to macroscopic observation and radiography of the bones, then we search for other examples of such a pathology in archaeological litterature. RESULT: The malformation caused vascular insufficiency that may have led to neurological lesions leading to various pains and troubles. The very rare malformations Iuzu presented have not been found on a paleoindian skeleton from South America so far. CONCLUSION: This case allowed us to examine the conditions of selection of individuals buried in southern Piauí during the Middle Holocene, during which time this rite does not seem to predominate.

Síndrome de Grebe: Reporte de un caso / Grebe syndrome. Case report

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

What is your diagnosis?

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.

What is your diagnosis?

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.

The limping child.

Limping is a symptom of varied diagnoses in children and adolescents and can present a difficult diagnostic challenge for primary care clinicians. A careful and systematic evaluation can shorten the long list of potential diagnoses to direct appropriate diagnostic tests to determine the cause of the problem. Trauma and infections are the most common causes of limping. Inflammatory conditions, developmental diagnoses,and overuse injuries are other causes. Although rare, malignancies such as osteosarcoma and blood cell cancers must also be considered as potential causes of limping in children and adolescents.• Limping presents a diagnostic challenge due to the number of possible causes.• On the basis of consensus, diagnostic laboratory tests that include complete blood count, erythrocyte sedimentation rate,C-reactive protein, and blood cultures should be ordered if suspicion is high for infectious etiology.• On the basis of consensus, orthopedic emergencies are vascular compromise, compartment syndrome, and open fractures.• On the basis of moderate evidence and consensus, compartment syndrome in children presents with the three "As" analgesia,anxiety, and agitation. (4)• On the basis of strong evidence and consensus, septic arthritis asa diagnosis increases with the number of Kocher criteria present(temperature >38.5°C, white blood cell count >12,000/mL[12109/L], erythrocyte sedimentation rate >40 mm/h, and inability to bear weight). (8)• On the basis of moderate evidence and consensus, laboratory studies are not always definitive for diagnosis of juvenile idiopathic arthritis. (13)• On the basis of consensus, it is always important to examine the joint above and the joint below the area of the chief compliant,specifically when looking at slipped capital femoral epiphysis and Legg-Calvé-Perthes disease.

Músculos accesorios de la muñeca: revisión pictográfica en us y rm / Accesory muscle of the wrist: a pictographic review

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.

Anomalías congénitas / Congenital anomalies

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.

Photogrammetry: an accurate and reliable tool to detect thoracic musculoskeletal abnormalities in preterm infants.

OBJECTIVE: To analyse the accuracy and reproducibility of photogrammetry in detecting thoracic abnormalities in infants born prematurely. DESIGN: Cross-sectional study. SETTING: The Premature Clinic at the Federal University of São Paolo. PARTICIPANTS: Fifty-eight infants born prematurely in their first year of life. OUTCOME MEASURES: Measurement of the manubrium/acromion/trapezius angle (degrees) and the deepest thoracic retraction (cm). Digitised photographs were analysed by two blinded physiotherapists using a computer program (SAPO; http://SAPO.incubadora.fapesp.br) to detect shoulder elevation and thoracic retraction. Physical examinations performed independently by two physiotherapists were used to assess the accuracy of the new tool. RESULTS: Thoracic alterations were detected in 39 (67%) and in 40 (69%) infants by Physiotherapists 1 and 2, respectively (kappa coefficient=0.80). Using a receiver operating characteristic curve, measurement of the manubrium/acromion/trapezius angle and the deepest thoracic retraction indicated accuracy of 0.79 and 0.91, respectively. For measurement of the manubrium/acromion/trapezius angle, the Bland and Altman limits of agreement were -6.22 to 7.22° [mean difference (d)=0.5] for repeated measures by one physiotherapist, and -5.29 to 5.79° (d=0.75) between two physiotherapists. For thoracic retraction, the intra-rater limits of agreement were -0.14 to 0.18cm (d=0.02) and the inter-rater limits of agreement were -0.20 to -0.17cm (d=0.02). CONCLUSION: SAPO provided an accurate and reliable tool for the detection of thoracic abnormalities in preterm infants.

[Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome]. / Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H.

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.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

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.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

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.(AU)

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.(AU)

Anthropometric and musculoskeletal assessment of patients with Marfan syndrome.

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%), pectus and scoliosis in 19 (73%), dolichostenomelia in 11 (42%) and arachnodactyly in 21 (80%). Eleven patients (42%) with MS had previously undergone physical therapy. CONCLUSIONS: Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.

Avaliação antropométrica e musculoesquelética de pacientes com síndrome de Marfan / Anthropometric and musculoskeletal assessment of patients with Marfan syndrome

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.

Achados de imagem das alterações musculoesqueléticas associadas ao lúpus eritematoso sistêmico / Imaging findings of musculoskeletal disorders associated with systemic lupus erythematosus

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.

Hematoma en el músculo esternocleidomastoideo: fibromatosis colli / Hematoma in sternocleidomastoid muscle: fibromatosis colli

Patología más frecuente del músculo esternocleidomastoideo durante las primeras semanas de vida, de la que se describen su diagnóstico, y características clínicas y ecográficas.

Hematoma en el músculo esternocleidomastoideo: fibromatosis colli / Hematoma in sternocleidomastoid muscle: fibromatosis colli

Patología más frecuente del músculo esternocleidomastoideo durante las primeras semanas de vida, de la que se describen su diagnóstico, y características clínicas y ecográficas.(AU)

Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil.

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%; 95% 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% (pectus excavatum: 1.275%; pectus carinatum: 0.675%). Of the 26 students with a pectus deformity, 17 (65.4%) had pectus excavatum, and 18 (69.2%) were male. Concomitant scoliosis was observed in 3 cases (11.5%). A family history of pectus was reported by 17 students (65.4%), and 17 (65.4%) reported chest pain, dyspnea or palpitations. CONCLUSIONS: In this study, the prevalence of pectus deformities (1.95%) was lower than that reported in other studies conducted in Brazil (3.6-4.9%) but was higher than that reported in the literature (mean, 1%).

Prevalência de pectus carinatum e pectus excavatum em escolares de Manaus / Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil

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).