A surviving case of papillorenal syndrome with the phenotype of Potter sequence

Pediatr Int. 2011 Jun;53(3):406-8. doi: 10.1111/j.1442-200X.2010.03261.x.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cesarean Section
  • Coloboma / diagnosis
  • Coloboma / embryology
  • Coloboma / genetics*
  • Diagnosis, Differential
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics*
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • PAX2 Transcription Factor / genetics*
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Renal Insufficiency / diagnosis
  • Renal Insufficiency / embryology
  • Renal Insufficiency / genetics*
  • Vesico-Ureteral Reflux / diagnosis
  • Vesico-Ureteral Reflux / embryology
  • Vesico-Ureteral Reflux / genetics*

Substances

  • PAX2 Transcription Factor
  • PAX2 protein, human

Supplementary concepts

  • Papillorenal syndrome