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Artigo em Inglês | IMSEAR | ID: sea-92781

RESUMO

Melnick-Needles syndrome or osteodysplasty, a monogenic heritable bone dysplasia, is characterized by a typical facies and characteristic radiological findings. Less than 70 well-documented cases have been reported in literature; most of them were sporadic. We report the first case from Eastern India in an adolescent male, who had cranio-vertebral junction anomalies and presented with spastic quadriparesis at the age of 13 years.


Assuntos
Adolescente , Vértebras Cervicais/patologia , Genes Dominantes , Humanos , Índia , Ligação Genética , Masculino , Osteocondrodisplasias/genética , Platibasia/patologia , Quadriplegia/genética
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