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Article de Anglais | IMSEAR | ID: sea-92781

RÉSUMÉ

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.


Sujet(s)
Adolescent , Vertèbres cervicales/anatomopathologie , Gènes dominants , Humains , Inde , Liaison génétique , Mâle , Ostéochondrodysplasies/génétique , Platybasie/anatomopathologie , Tétraplégie/génétique
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