About: Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa     Goto   Sponge   NotDistinct   Permalink

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Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature.

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  • Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (en)
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  • Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature. (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Wiki_pre-op.jpg
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deaths
  • - (en)
onset
  • Birth (en)
symptoms
  • Ocular, visual, dental and skeletal (en)
causes
duration
  • Lifelong (en)
frequency
  • very rare, only 2 cases have been described in medical literature (en)
has abstract
  • Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature. (en)
prevention
  • none (en)
prognosis
  • Good (en)
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