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

Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948.

Abstract

Conorenal dysplasia is a rare syndrome 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.

Publication types

  • Case Reports

MeSH terms

  • Epiphyses / diagnostic imaging*
  • Femur / abnormalities*
  • Follow-Up Studies
  • Hand / diagnostic imaging
  • Humans
  • Kidney Diseases / diagnosis*
  • Male
  • Middle Aged
  • Radiography
  • Retinitis Pigmentosa / diagnosis*
  • Syndrome