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A new syndrome with ocular, skeletal and renal involvement

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Abstract

A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.

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Authors and Affiliations

  1. Servizio di Nefrologia, Ospedale Infantile Regina Margherita, Turin, Italy

    G. Porcellini

  2. Servizio di Genetica Clinica Infantile Istituto di Discipline Pediatriche, Università di Torino, Piazza Polonia 94, I-10126, Torino, Italy

    M. Cirillo Silengo, G. Lopez Bell, M. Biagioli, A. Guala & P. Franceschini

Authors
  1. M. Cirillo Silengo
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  2. G. Lopez Bell
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  3. M. Biagioli
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  4. A. Guala
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  5. G. Porcellini
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  6. P. Franceschini
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Silengo, M.C., Bell, G.L., Biagioli, M. et al. A new syndrome with ocular, skeletal and renal involvement. Pediatr Radiol 17, 238–241 (1987). https://doi.org/10.1007/BF02388169

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  • DOI: https://doi.org/10.1007/BF02388169

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