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Disease: Bone dysplasia Azouz type

  • Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature
  • Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?
  • Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants
  • Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
  • Generalized enchondromatosis in a boy with only platyspondyly in the father
  • Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years
  • Metaphyseal chondrodysplasia, type Jansen
  • Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
  • Synovial hemangioma: imaging features in eight histologically proven cases, review of the literature, and differential diagnosis
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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