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Article in English | IMSEAR | ID: sea-92781

ABSTRACT

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.


Subject(s)
Adolescent , Cervical Vertebrae/pathology , Genes, Dominant , Humans , India , Genetic Linkage , Male , Osteochondrodysplasias/genetics , Platybasia/pathology , Quadriplegia/genetics
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