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Conorenal dysplasia: A syndrome of cone‐shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur
Author(s) -
Beals Rodney K.,
Weleber Richard G.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31948
Subject(s) - abnormality , retinitis pigmentosa , medicine , dysplasia , epiphysis , femur , anatomy , surgery , ophthalmology , pathology , retinal , psychiatry
Conorenal dysplasia is a rare sydrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases. © 2007 Wiley‐Liss, Inc.