Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts.

Original languageEnglish
Pages (from-to)202-205
Number of pages4
JournalPediatric radiology
Issue number2
StatePublished - Feb 1 2005


  • Cardio-facio-cutaneous syndrome
  • Foveolar hyperplasia
  • Renal cysts


Dive into the research topics of 'Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome'. Together they form a unique fingerprint.

Cite this