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.

A new syndrome with ocular, skeletal and renal involvement

CIRILLO, Margherita;
1987

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.
17
238-241
4
Cirillo Silengo M;Lopez Bell G; Biagioli M; Guala A; Porcellini G; Franceschini P
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/119171
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