RESUMO
In this paper we describe the clinical and radiographic features of a spondylo-epi-methaphyseal dysplasia. Dyggve-Melchior-Clausen syndrome. In these two new cases, without severe mental retardation, we have highlighted the clinical and radiological findings, progression of the skeletal changes that have allowed us to make a diagnosis.
Assuntos
Osteocondrodisplasias , Pré-Escolar , Diagnóstico Diferencial , Humanos , Masculino , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/fisiopatologia , Radiografia , SíndromeAssuntos
Hormônio do Crescimento/uso terapêutico , Síndrome de Turner/terapia , Estatura/efeitos dos fármacos , Desenvolvimento Ósseo/efeitos dos fármacos , Criança , Quimioterapia Combinada , Etinilestradiol/farmacologia , Etinilestradiol/uso terapêutico , Feminino , Hormônio do Crescimento/farmacologia , Humanos , Puberdade/efeitos dos fármacos , Resultado do TratamentoRESUMO
Multiple Pterygium Syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. Due to the extreme phenotypic variability of this syndrome many mild cases may be misdiagnosed or not recognized. The importance of an early diagnosis is to provide an adequate follow-up of these children in order to try to prevent many of the clinical problems they may encounter in their life-time.
