A new syndrome with ocular, skeletal and renal involvement

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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Zusammenfassung: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.
ISSN:0301-0449
1432-1998
DOI:10.1007/BF02388169