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 Silengo, M; Lopez Bell, G; Biagioli, Mario; Guala, A; Porcellini, G; Franceschini, Paolo. - In: PEDIATRIC RADIOLOGY. - ISSN 0301-0449. - 17:3(1987), pp. 238-41-N/A.
A new syndrome with ocular, skeletal and renal involvement
BIAGIOLI, Mario;Porcellini, G;FRANCESCHINI, PAOLO
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.
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