RESUMO
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
The present paper describes a case of spondyloepiphyseal dysplasia congenita (S.D.C.), a heritable bone dysplasia manifested at birth and characterized by short stature and retarded ossification of vertebral bodies, pelvis and extremities. Differential diagnosis which is important for genetic counselling purposes is established between S.D.C. and Morqu's disease, diastrophic dwarfism, metatropic dwarfism, psuedoachondroplasia and hypoachondroplasia.