Biometria do fígado e do baço em pacientes com lúpus eritematoso sistêmico de início pediátrico / Liver and spleen biometrics in childhood-onset systemic lupus erythematosus patients

RESUMOObjetivoAvaliar as dimensões do fígado e do baço em pacientes com lúpus eritematoso sistêmico de início pediátrico (LESp) e controles saudáveis.MétodosForam submetidos a uma ultrassonografia do abdome 30 pacientes com LESp e 30 voluntários saudáveis controle. Foram feitas duas medições do fígado no lobo hepático esquerdo (craniocaudal e anteroposterior) e três no lobo hepático direito (LHD) (craniocaudal posterior [CCP-LHD], craniocaudal anterior e anteroposterior). Foram também avaliadas três medidas das dimensões do baço: longitudinal, transversal e anteroposterior. Foram avaliados dados demográficos, clínicos e laboratoriais, SLEDAI-2K, ECLAM, SLAM e tratamento.ResultadosA idade média foi semelhante nos pacientes com LESp e controles (170,31 ± 27,81 vs. 164,15 ± 39,25 meses; p = 0,486). A média da dimensão CCP-LHD foi significativamente maior no grupo LESp em comparação com os controles (13,30 ± 1,85 vs. 12,52 ± 0,93, p = 0,044). Não houve diferenças nos outros parâmetros biométricos do fígado e do baço (p > 0,05). Uma análise especifica realizada apenas nos pacientes com LESp de acordo com a dimensão CCP-LHD ≥ 13,3 cm versus < 13,3 cm mostrou que a mediana do SLEDAI-2K [8 (0-18) vs. 2 (0-8), p = 0,004], ECLAM [4 (0-9) vs. 2 (0-5), p = 0,019] e SLAM [5 (1-13) vs. 2 (0-14), p = 0,016] era significativamente maior em pacientes com maior dimensão CCP-LHD, do mesmo modo que a frequência de nefrite (77% vs. 29%, p = 0,010). As enzimas hepáticas foram semelhantes nos dois grupos (p > 0,05). Foi observada uma correlação positiva entre o SLEDAI-2K e a dimensão CCP-LHD (p = 0,001, r = +0,595). Evidenciou-se uma correlação negativa entre a duração da doença e a dimensão longitudinal do baço (p = 0,031, r = −0,394).ConclusãoOs dados levantam a possibilidade de que a atividade da doença pode levar a uma hepatomegalia subclínica e localizada durante o curso da doença. A duração da doença resultou em atrofia do baço em pacientes com LESp.

ABSTRACTObjectiveTo evaluate liver and spleen dimensions in childhood-onset systemic lupus erythematosus (c-SLE) patients and healthy controls.Methods30 c-SLE patients and 30 healthy control volunteers underwent abdominal ultrasound. The following two liver measurements were performed in left hepatic lobe: craniocaudal and anteroposterior and three in right hepatic lobe (RHL): posterior craniocaudal (PCC-RHL), anterior craniocaudal and anteroposterior. Three spleen dimension measurements were also evaluated: longitudinal, transverse and anteroposterior. Demographic, clinical and laboratorial data, SLEDAI-2K, ECLAM, SLAM and treatment were assessed.ResultsMean current age was similar in c-SLE and controls (170.31 ± 27.81 vs. 164.15 ± 39.25months; p = 0.486). The mean of PCC-RHL dimension was significantly higher in c-SLE compared to controls (13.30 ± 1.85 vs. 12.52 ± 0.93, p = 0.044). There were no differences between the other hepatic biometrics and splenic parameters (p > 0.05). Further analysis in c-SLE patients according to PCC-RHL dimension ≥ 13.3 cm versus < 13.3 cm showed that the median of SLEDAI-2K [8(0-18) vs. 2(0-8), p = 0.004], ECLAM [4(0-9) vs. 2(0-5), p = 0.019] and SLAM [5(1-13) vs. 2(0-14), p = 0.016] were significantly higher in patients with higher PCC-RHL dimension, likewise the frequencie of nephritis (77% vs. 29%, p = 0.010). Liver enzymes were similar in both groups (p > 0.05). Positive correlation was observed between SLEDAI-2K and PCC-RHL (p = 0.001, r = +0.595). Negative correlation was evidenced between disease duration and longitudinal dimension of spleen (p = 0.031, r = −0.394).ConclusionOur data raises the possibility that disease activity could lead to a subclinical and localized hepatomegaly during the disease course. Long disease duration resulted to spleen atrophy in c-SLE patients.

[Liver and spleen biometrics in childhood-onset systemic lupus erythematosus patients]. / Biometria do fígado e do baço em pacientes com lúpus eritematoso sistêmico de início pediátrico.

OBJECTIVE: To evaluate liver and spleen dimensions in childhood-onset systemic lupus erythematosus (c-SLE) patients and healthy controls. METHODS: 30 c-SLE patients and 30 healthy control volunteers underwent abdominal ultrasound. The following two liver measurements were performed in left hepatic lobe: craniocaudal and anteroposterior and three in right hepatic lobe (RHL): posterior craniocaudal (PCC-RHL), anterior craniocaudal and anteroposterior. Three spleen dimension measurements were also evaluated: longitudinal, transverse and anteroposterior. Demographic, clinical and laboratorial data, SLEDAI-2K, ECLAM, SLAM and treatment were assessed. RESULTS: Mean current age was similar in c-SLE and controls (170.31 ± 27.81 vs. 164.15 ± 39.25 months; p = 0.486). The mean of PCC-RHL dimension was significantly higher in c-SLE compared to controls (13.30 ± 1.85 vs. 12.52 ± 0.93, p = 0.044). There were no differences between the other hepatic biometrics and splenic parameters (p > 0.05). Further analysis in c-SLE patients according to PCC-RHL dimension ≥ 13.3cm versus < 13.3 cm showed that the median of SLEDAI-2K [8(0-18) vs. 2(0-8), p=0.004], ECLAM [4(0-9) vs. 2(0-5), p = 0.019] and SLAM [5(1-13) vs. 2(0-14), p = 0.016] were significantly higher in patients with higher PCC-RHL dimension, likewise the frequencie of nephritis (77% vs. 29%, p = 0.010). Liver enzymes were similar in both groups (p > 0.05). Positive correlation was observed between SLEDAI-2K and PCC-RHL (p = 0.001, r = +0.595). Negative correlation was evidenced between disease duration and longitudinal dimension of spleen (p = 0.031, r = -0.394). CONCLUSION: Our data raises the possibility that disease activity could lead to a subclinical and localized hepatomegaly during the disease course. Long disease duration resulted to spleen atrophy in c-SLE patients.

Osteonecrosis of the jaw on imaging exams of patients with juvenile systemic lupus erythematosus.

OBJECTIVE: The objective of the present study was to evaluate radiographic changes of the temporomandibular joint (TMJ) in patients with juvenile systemic lupus erythematosus (JSLE) and a control group. PATIENTS AND METHODS: Panoramic radiographies of the TMJ of 26 JSLE patients and 28 healthy individuals were evaluated. Multislice computed tomography (MCT) was performed on those patients who presented flattening and/or destruction of mandibular condyles. Demographic data, oral health indices, clinical manifestations, laboratory exams, and treatment were evaluated. RESULTS: Important radiographic changes consistent with osteonecrosis of the mandible, confirmed by MCT of the TMJ, were observed in 2/26 (8%) JSLE patients versus 0% in the control group (P = 0.22). Mild clinical dysfunction and abnormal TMJ mobility were observed in 67% and 54% of the patients, respectively. Age of onset, disease duration, and current age were similar in JSLE patients with and without severe radiographic changes of TMJ (9.3 versus 10.8 years, P = 0.77; 3.3 versus 2 years, P = 0.63; 12.6 versus 13.5 years, P = 0.74, respectively). Significant differences in gender, socioeconomical status, oral health indices, clinical manifestations, laboratory exams, and treatment were not observed between both subgroups (P 0.05). Both JSLE patients with osteonecrosis of the mandible had active chronic disease, used corticosteroids for a prolonged period, and had mild TMJ dysfunction. Antiphospholipid antibodies were not observed in those two patients, and neither one had been treated with bisphosphonate. CONCLUSIONS: Osteonecrosis of the mandible with mild TMJ dysfunction was observed in some of the patients, demonstrating the importance of odontological assessment during clinical follow-up.

Malformations of cortical development in patients with midline facial defects and ocular hypertelorism.

OBJECTIVES: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). METHODS: The investigation protocol included a previous semistructured questionnaire about family history; gestational, neonatal, and postnatal development; and dysmorphologic and neurologic evaluation. Recognized monogenic disorders and individuals with other well-known conditions were excluded. All patients had high resolution magnetic resonance imaging (MRI) with multiplanar reconstruction (MPR) and routine electroencephalograms (EEGs). RESULTS: We detected abnormalities in five patients whose MRIs had been previously reported as normal. MRI showed central nervous system (CNS) structural abnormalities in all patients, which included commissural alterations in 16/17 (94%), malformations of cortical development in 10/17 (58%), disturbances of neural tube closure in 7/17 (42%), and posterior fossa anomalies in 6/17 (35%). Some patients had more than one type of malformation occurring at different stages of the embryonary process. EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. CONCLUSION: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. Therefore, the CNS anomalies cannot be considered incidental findings but an intrinsic part of this condition, which could be related to environmental effects and/or genetic mutations. These findings would provide a basis for future investigations on MFDH and should also be considered when planning rehabilitation.

Osteonecrose de mandíbula em pacientes com lúpus eritematoso sistêmico juvenil observada em exame de imagem / Osteonecrosis of the jaw on imaging exams of patients with juvenile systemic lupus erythematosus

OBJETIVO: O objetivo deste estudo foi avaliar alterações radiográficas da articulação temporomandibular (ATM) em pacientes com lúpus eritematoso sistêmico juvenil (LESJ) e controles. PACIENTE E MÉTODOS: Vinte e seis pacientes com LESJ e 28 controles foram avaliados com radiografia panorâmica da ATM. Tomografia computadorizada multislice (TCM) da ATM foi realizada naqueles que tiveram achatamento e/ou destruição dos côndilos mandibulares. Foram avaliados dados demográficos, índices de saúde bucal, manifestações clínicas, exames laboratoriais e tratamentos. RESULTADOS: Alterações radiográficas importantes compatíveis com osteonecrose de mandíbula e confirmadas pela TCM da ATM foram observadas em 2/26 (8 por cento) de LESJ versus 0 por cento do grupo controle (P = 0,22). Disfunção clínica leve e mobilidade alterada de ATM foram observadas em 67 por cento e 54 por cento, respectivamente. A idade de início, duração da doença e idade atual foram semelhantes nos pacientes com LESJ com e sem alterações radiográficas graves da ATM (9,3 versus 10,8 anos, P = 0,77; 3,3 versus 2 anos, P = 0,63; 12,6 versus 13,5 anos, P = 0,74; respectivamente). Assim como não foram evidenciadas diferenças estatísticas em ambos os grupos com relação a sexo, classe socioeconômica, índices de saúde bucal, manifestações clínicas, exames laboratoriais e tratamentos (P > 0,05). Esses dois pacientes com LESJ e osteonecrose de mandíbula tiveram curso crônico ativo da doença, utilizaram corticosteroides por um longo período e apresentaram disfunção clínica leve da ATM. Nenhum deles teve anticorpos antifosfolipídeos e não foram tratados previamente com bisfosfonatos. CONCLUSÕES: Osteonecrose de mandíbula com leve disfunção clínica da ATM foi observada em alguns pacientes, demonstrando a importância da avaliação odontológica durante o acompanhamento clínico.

OBJECTIVE: The objective of the present study was to evaluate radiographic changes of the temporomandibular joint (TMJ) in patients with juvenile systemic lupus erythematosus (JSLE) and a control group. PATIENTS AND METHODS: Panoramic radiographies of the TMJ of 26 JSLE patients and 28 healthy individuals were evaluated. Multislice computed tomography (MCT) was performed on those patients who presented flattening and/or destruction of mandibular condyles. Demographic data, oral health indices, clinical manifestations, laboratorial exams, and treatment were evaluated. RESULTS: Important radiographic changes consistent with osteonecrosis of the mandible, confirmed by MCT of the TMJ, were observed in 2/26 (8 percent) JSLE patients versus 0 percent in the control group (P = 0.22). Mild clinical dysfunction and abnormal TMJ mobility were observed in 67 percent and 54 percent of the patients, respectively. Age of onset, disease duration, and current age were similar in JSLE patients with and without severe radiographic changes of TMJ (9.3 versus 10.8 years, P = 0.77; 3.3 versus 2 years, P = 0.63; 12.6 versus 13.5 years, P = 0.74, respectively). Significant differences in gender, socioeconomical status, oral health indices, clinical manifestations, laboratorial exams, and treatment were not observed between both subgroups (P 0.05). Both JSLE patients with osteonecrosis of the mandible had active chronic disease, used corticosteroids for a prolonged period, and had mild TMJ dysfunction. Antiphospholipid antibodies were not observed in those two patients, and neither one had been treated with bisphosphonate. CONCLUSIONS: Osteonecrosis of the mandible with mild TMJ dysfunction was observed in some of the patients, demonstrating the importance of odontological assessment during clinical follow-up.

Hipotensão ortostática em pacientes idosos ambulatoriais / Orthostatic hypotension in elderly ambulatory patients

Introdução: A hipotensão ortostática (HO) é definida como uma queda na pressão arterial sistólica (PAS) de 20 mmHg ou mais e/ou uma queda na pressão arterial diastólica (PAD) de 10 mmHg ou mais quando se assume a posição ortostática. Pode estar associada ou não a sintomas, e a HO tem sido associada a quedas nos idosos. Objetivo: Avaliar a prevalência de HO e seus sintomas nos pacientes ambulatoriais e identificar os possíveis fatores de risco pelo perfil do paciente. Pacientes e métodos: 50 idosos com idade igual ou superior a 60 anos (média 71,48) de ambos os sexos (18 homens e 32 mulheres) que procuraram o ambulatório da FMABC participaram deste estudo. A pressão arterial (PA) foi medida na posição supina, após repouso de 5 min nesta mesma posição. Foi solicitado ao paciente que ficasse na posição ortostática, e então aferida sua PA em 1 e 3 min após ter assumido esta posição. O paciente foi questionado sobre os sintomas e fatores de risco de HO. Resultados: A prevalência de HO foi de 38% sendo que destes apenas 11% apresentou sintomas. Alteração em PAS e PAD concomitante foi mais freqüente (12 casos). Um ou mais fatores de risco foram encontrados em todos os pacientes sendo o uso de medicamentos e a hipertensão os mais freqüentes. Conclusão: Existe alta prevalência de HO em idosos ambulatoriais, o que deve atentar ao médico a aferição da PA corretamente, principalmente em idosos com uso de medicamentos e hipertensos.

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

Several disorders characterized primarily by anomalies of the skeleton have recently been shown to be caused by mutations in the X-linked gene, FLNA. One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome. Here, we describe three individuals with these diagnoses. The individual with serpentine fibula-polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu-Cheney syndrome. All three members of the filamin gene family, FLNA, and its functionally related paralogues, FLNB and FLNC, were screened for pathogenic mutations in all three individuals. We found a mutation in FLNA in the individual with Melnick-Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome. Clinical and molecular evidence indicates that Melnick-Needles syndrome is aetiologically distinct from Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another.

Midline facial defects with hypertelorism and low-grade astrocytoma: a previously undescribed association.

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

Vitamin B12 deficiency in infancy as a cause of developmental regression.

Vitamin B12 deficiency can cause serious developmental regression, hypotonia and cerebral atrophy in infants. We report a 6-month-old infant, with insidious developmental regression and brain atrophy showed by CT scan, secondarily to vitamin B12 deficiency. His mother was a strict vegetarian and the patient was exclusively breastfed. The clinical symptoms and the brain CT were normalized after vitamin B12 administration.

Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome.

We describe an 18-year-old boy with a frontofacial syndrome. The presence of severe epilepsy led to a neuroimaging investigation, which revealed a diffuse pachygyric (normal thickness and simplified folding) cortex that was bilateral and affected all supratentorial regions, sparing the medial and inferior aspects of the frontal lobe plus the posterior occipital region. In addition, an unusual skull base presentation with small posterior fossa, narrowed foramen magnum, and low torcular and tentorial insertions was documented. Dysmorphic ventricles and enlarged cavi of the septi pellucidum, vergae, and velum interpositum were also noted. This case shares many similarities with two patients formerly described by Fryns and Aftimos, who were previously classified as having mental retardation and multiple congenital anomalies syndrome. The existence of a new case corroborates the idea of a distinct condition with particular characteristic dysmorphic facial features and the presence of a specific malformation of cortical development associated with severe epilepsy. We believe that epilepsy and pachygyria play a central role in distinguishing this syndrome from others classified as frontofacial or cerebrofrontofacial syndromes, and we propose the term "Fryns-Aftimos syndrome" to name it.

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes.

Polymicrogyria in glycogenosis type III: an incidental finding?

The purpose of the present report is to document a 20-year-old woman with glycogenosis type III who presented a malformation of cortical development, in this case a polymicrogyria over bilateral perisylvian regions. Association of a malformation of cortical development in this type of glycogenosis has not been previously reported. The existence of previous cases of glycogenosis associated with malformations of cortical development led us to believe that glycogen storage during pregnancy may act as a harmful prenatal event. On the other hand, the presence of a lesion associated with severe neurologic deficits in one patient with a milder form of glycogenosis is in disagreement with the idea that there is a strong correlation between the severity of the central nervous system lesion and that of the disease.

Neonatal seizures: the overlap between diagnosis of metabolic disorders and structural abnormalities. Case report.

UNLABELLED: Inborn metabolic errors (IME) and cortical developmental malformations are uncommon etiologies of neonatal seizures, however they may represent treatable causes of refractory epilepsy and for this reason must be considered as possible etiological factors. This case report aims to demonstrate the importance of neuroimaging studies in one patient with neonatal seizures, even when there are clues pointing to a metabolic disorder. CASE REPORT: A previously healthy 14 day-old child started presenting reiterated focal motor seizures (FMS) which evolved to status epilepticus. Exams showed high serum levels of ammonia and no other abnormalities. A metabolic investigation was conducted with normal results. During follow-up, the patient presented developmental delay and left side hemiparesia. Seizures remained controlled with anti-epileptic drugs for four months, followed by relapse with repetitive FMS on the left side. Temporary improvement was obtained with anti-epileptic drug adjustment. At the age of 6 months, during a new episode of status epilepticus, high ammonia levels were detected. Other metabolic exams remained normal. The child was referred to a video-electroencephalographic monitoring and continuous epileptiform discharges were recorded over the right parasagittal and midline regions, with predominance over the posterior quadrant. A new neuroimaging study was performed and displayed a malformation of cortical development. Our case illustrates that because newborns are prone to present metabolic disarrangement, an unbalance such as hyperammonemia may be a consequence of acute events and conduct to a misdiagnosis of IME.

Neonatal seizures: the overlap between diagnosis of metabolic disorders and structural abnormalities. Case report

Inborn metabolic errors (IME) and cortical developmental malformations are uncommon etiologies of neonatal seizures, however they may represent treatable causes of refractory epilepsy and for this reason must be considered as possible etiological factors. This case report aims to demonstrate the importance of neuroimaging studies in one patient with neonatal seizures, even when there are clues pointing to a metabolic disorder. CASE REPORT: A previously healthy 14 day-old child started presenting reiterated focal motor seizures (FMS) which evolved to status epilepticus. Exams showed high serum levels of ammonia and no other abnormalities. A metabolic investigation was conducted with normal results. During follow-up, the patient presented developmental delay and left side hemiparesia. Seizures remained controlled with anti-epileptic drugs for four months, followed by relapse with repetitive FMS on the left side. Temporary improvement was obtained with anti-epileptic drug adjustment. At the age of 6 months, during a new episode of status epilepticus, high ammonia levels were detected. Other metabolic exams remained normal. The child was referred to a video-electroencephalographic monitoring and continuous epileptiform discharges were recorded over the right parasagittal and midline regions, with predominance over the posterior quadrant. A new neuroimaging study was performed and displayed a malformation of cortical development. Our case illustrates that because newborns are prone to present metabolic disarrangement, an unbalance such as hyperammonemia may be a consequence of acute events and conduct to a misdiagnosis of IME

Tomografia computadorizada de crânio em crianças e adolescentes com vírus da imunodeficiência humana adquirido por transmissão vertical / Cranial computed tomography in children and adolescents vertically infected with the human immunodeficiency virus

Estudamos as alterações tomográficas de 162 crianças e adolescentes que adquiriram, por transmissão vertical, o vírus da imunodeficiência humana. Analisamos as possíveis correlações entre estas alterações e o aspecto evolutivo das mesmas. Detectamos calcificações (46,3 por cento), atrofia (37,6 por cento), alterações da substância branca (25,9 por cento) e anomalias vasculares (25,2 por cento). A correlação entre as alterações de substância branca e a atrofia e entre as calcificações e as alterações vasculares foi estatisticamente significante. Na análise evolutiva, observamos um acréscimo significativo das alterações entre o primeiro e o quarto exame. Nossos dados demonstram sinais de progressão tomográfica a despeito das condições iniciais de manifestação.We studied the tomographic findings of 162 children and adolescents who acquired, by vertical transmission, the human deficiency virus. We analyzed the possible correlations between these alterations and their evolutionary aspect. We detected calcifications (46,3 per cent), atrophy (37,6 per cent), white matter alterations (25,9 per cent) and vascular anomalies (25,2 per cent). The correlation between white matter alterations and atrophy and calcification and vascular anomalies was statistically significant. In the evolutionary analysis, we observed a significant increase of these abnormalities between the first and the fourth exam. Our data demonstrates progressive tomographic signs despite the initial conditions of the manifestation...

Anomalias músculo-esqueléticas na síndrome de Williams-Beuren. Descrição de 20 crianças e adolescentes utilizando-se o teste de hidridização in situ por fluorescência (FISH) / Musculoskeletal anomalies in Williams-Beuren syndrome. Description of 20 children and adolescents utilizing the fluorescence in situ hybridization (FISH) analysis

A síndrome de Williams-Beuren (SWB) é uma síndrome de deleção de genes contíguos, caracterizada por fácies típico, anomalias oculares, cardiopatia congênita, deficiência mental, personalidade amigável, anomalias renais e esqueléticas. A causa da SWB é uma deleção submicroscópica no lócus do gene da elastina, localizada em 7q11.23, detectável pelo teste de Hibridização In Situ por Fluorescência (FISH) em 90% a 95% dos afetados. As anomalias músculo-esqueléticas características da SWB são hipermobilidade articular na lactância, contraturas articulares, limitação à supinação do antebraço com ou sem sinostose rádioulnar e pregas extra-sacrais. Outras anomalias freqüentes incluem escoliose, cifose e lordose acentuada. Objetivo: Descrever as manifestações clínicas e radiológicas em 20 pacientes com SWB e correlacioná-las com o teste de FISH. Métodos: Realizamos uma avaliação clínica e radiológica prospectiva em 20 afetados (11M:9F) pela SWB com média de idade de 9,5 anos (5 – 17 anos). Resultados: Dezessete (85%) pacientes apresentavam a deleção (FISH positivo). As seguintes anomalias foram observadas somente nos pacientes FISH positivo: contraturas articulares (18%), limitação à supinação dos antebraços (24%), sinostose rádio-ulnar (13%) e pregas extra-sacrais (71%). A fisioterapia foi indicada, em todos os pacientes, para as contraturas articulares que tendem a piorar com a idade. Conclusões: Devido a uma alta incidência de anomalias músculo-esqueléticas em pacientes com a SWB, recomendamos uma avaliação clínica das articulações e radiografia completa do esqueleto para todas as crianças afetadas na ocasião do diagnóstico.