Conorenal dysplasia: A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur

Rodney K. Beals, Richard G. Weleber

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2444-2447
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number20
DOIs
StatePublished - Oct 15 2007

Keywords

  • Cone-shaped epiphysis
  • Renal disease
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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