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Osteoglophonic Dysplasia: Phenotypic and Radiological Clues

Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-yea...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Kuthiroly, Shwetha, Yesodharan, Dhanya, Ghosh, Aneesh, White, Kenneth E., Nampoothiri, Sheela
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2017
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5687321/
https://ncbi.nlm.nih.gov/pubmed/29147600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1602816
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