A new syndrome with ocular, skeletal and renal involvement

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...

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Veröffentlicht in:	Pediatric radiology 1987-03, Vol.17 (3), p.238-241
Hauptverfasser:	SILENGO, M. C, LOPEZ BELL, G, BIAGIOLI, M, GUALA, A, PORCELLINI, G, FRANCESCHINI, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Adolescent Adult Biological and medical sciences Bone and Bones - abnormalities Complex syndromes Female Fingers - abnormalities Humans Hypertension - complications Male Medical genetics Medical sciences Nephritis, Interstitial - complications Radius - abnormalities Retinitis Pigmentosa - complications Syndrome Toes - abnormalities Ulna - abnormalities Vision Disorders - complications
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