RESUMO
El síndrome de Klippel-Feil (KFS) es un grupo heterogéneo de malformaciones a nivel vertebral que presentan un componente genético monogénico; se caracteriza por presentar un defecto en la formación o segmentación de las vértebras cervicales, que da como resultado una apariencia fusionada. La tríada clínica consiste en un cuello corto, una línea de implantación baja del cabello y un movimiento limitado del cuello. Presentamos el caso de un paciente masculino de 17 años que manifiesta los hallazgos clínicos y radiológicos de esta anomalía. (AU)
Klippel-Feil syndrome (KFS) is a heterogeneous group of vertebral malformations that presents a monogenic genetic component, characterized by a defect in the formation or segmentation of the cervical vertebrae, which results in a fused appearance. The clinical triad consists of a short neck, a low hairline and a limited movement of the neck. We present the case of a 17 year-old male patient who presented the clinical and radiological findings of this anomaly. (AU)
Assuntos
Humanos , Masculino , Feminino , Gravidez , Adolescente , Adulto , Adulto Jovem , Síndrome de Klippel-Feil/terapia , Pescoço/anormalidades , Escoliose/diagnóstico por imagem , Antipiréticos/uso terapêutico , Perda Auditiva , Analgésicos/uso terapêutico , Síndrome de Klippel-Feil/etiologia , Síndrome de Klippel-Feil/genética , Síndrome de Klippel-Feil/diagnóstico por imagem , Antibacterianos/uso terapêuticoRESUMO
INTRODUCTION: Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. CONCLUSIONS: Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.
Assuntos
Vértebras Cervicais/diagnóstico por imagem , Síndrome de Klippel-Feil/história , Pessoas Famosas , História do Século XVIII , História do Século XIX , História do Século XX , História Antiga , Humanos , Síndrome de Klippel-Feil/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: Klippel-Feil syndrome is characterized by faulty segmentation of two or more cervical vertebrae and, in its most severe form, consists of massive cervical vertebral fusion, short neck, low posterior hairline, and limitation of head movement. Several cases associating Klippel-Feil syndrome with situs inversus totalis have been reported. In the present study, we describe the clinical features of a novel case of Klippel-Feil syndrome associated with situs inversus totalis and searched for mutations in GDF1, GDF3 and GDF6 genes, which were recently implicated in the development of skeletal and visceral anomalies. METHODS: A case of Klippel-Feil syndrome associated with situs inversus totalis underwent a full clinical examination including X-ray of cervical spine and thorax, abdominal ultrasound, and computerized tomography scanning of thorax and abdomen. PCR amplification and automated nucleotide sequencing of coding exons and intron-exon junctions of GDF1, GDF3, and GDF6 genes were performed in genomic DNA. RESULTS: No molecular alterations were found in GDF1, GDF3 and GDF6 genes in this patient. CONCLUSION: An additional patient associating Klippel-Feil syndrome and situs inversus totalis is reported. Mutations in GDF1, GDF3, and GDF6 genes were excluded as the cause of this unusual clinical association.
Assuntos
Fator 1 de Diferenciação de Crescimento/genética , Fator 3 de Diferenciação de Crescimento/genética , Fator 6 de Diferenciação de Crescimento/genética , Síndrome de Klippel-Feil/diagnóstico por imagem , Situs Inversus/diagnóstico por imagem , Adulto , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Humanos , Síndrome de Klippel-Feil/genética , Radiografia , Situs Inversus/genéticaAssuntos
Síndrome de Klippel-Feil/diagnóstico por imagem , Adulto , Humanos , Masculino , RadiografiaRESUMO
Cervical spine dysmorphisms (CSD) occurs in an heterogeneous group of patients unified by the presence of congenital defects result from malalignment, formation or segmentation of the cervical spine; generating disability. This problem requires comprehensive evaluation of patients with scoliosis diagnosis, correlating clinical and radiological findings and the presence of numerous abnormalities of other systems in order to give an opportunely syndrome diagnosis and multidisciplinary management of this patients with the aim to give them an integral rehabilitation treatment increasing their quality of life. In this study we described clinical and radiological findings in children with CSD diagnosis. We studied 47 consecutive outpatients of Pediatric Rehabilitation Division in Instituto Nacional de Rehabilitaci6n (INR) with scoliosis diagnosis. Sixteen patients (34%) had CSD diagnosis. Most frequently syndromes (Sx) were: Klippel-Feil Sx (19%), Wildervanck (4.3%), neurofibromatosis (4.3%), Morquio (2.1%), Stickler (2.1%) and Williams (2.1%). We found CSD diagnosis in 34% of group studied, greater than medical literature.
Assuntos
Vértebras Cervicais/anormalidades , Escoliose/etiologia , Anormalidades Múltiplas/diagnóstico por imagem , Vértebras Cervicais/diagnóstico por imagem , Criança , Anormalidades Craniofaciais/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Síndrome de Klippel-Feil/complicações , Síndrome de Klippel-Feil/diagnóstico por imagem , Cifose/diagnóstico por imagem , Cifose/epidemiologia , Cifose/etiologia , Cifose/reabilitação , Masculino , Transtornos dos Movimentos/diagnóstico por imagem , Transtornos dos Movimentos/etiologia , Mucopolissacaridose IV/complicações , Mucopolissacaridose IV/diagnóstico por imagem , Neurofibromatoses/complicações , Neurofibromatoses/diagnóstico por imagem , Prevalência , Radiografia , Escoliose/diagnóstico por imagem , Escoliose/epidemiologia , Escoliose/reabilitação , Síndrome , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico por imagemRESUMO
Klippel-Feil syndrome (KPS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. The hallmark phenotypic findings of low hairline, short neck, and limited range of motion of the neck are found as al triad in < 50% of patients. Congenital musculoskeletal and systemic anomalies are commonly found. These include, but are not limited to elevation of the scapula, scoliosis and renal and cardiac abnormalities. Here, we present the three-dimensional images by computed tomography of a 9-year-old boy with multiple fusion of the cervical vertebraes.
Assuntos
Síndrome de Klippel-Feil/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Criança , Humanos , Imageamento Tridimensional , MasculinoRESUMO
The author presents a review of seven cases with isolated vertebral block of the cervical spine, studied in 1980 in order to verify if the etiology was congenital or acquired. This kind of bony alteration of the spine confused in the literature with Klippel-Feil's syndrome, which is a congenital constellation of bone alterations. The author concludes that, even in two cases with a diagnosis of rheumatoid arthritis, the vertebral block probably was not related to the inflammatory pathology. For one case of severe rheumatoid arthritis, it is proposed that the congenital block may have been present before the onset of the inflammatory disease. The cervical vertebral block can be considered to be an asymptomatic radiological finding.
Assuntos
Síndrome de Klippel-Feil/diagnóstico por imagem , Doenças da Coluna Vertebral/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , RadiografiaRESUMO
Initially the author characterises Charcot-Marie-Tooth's disease and Klippel-Feil's syndrome and reports a case in which both these conditions were associated. A review of the concerning literature showing the several possibilities of association of either one with another nosological conditions is reported.