Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome

Pediatr Nephrol. 1990 Jul;4(4):308-13. doi: 10.1007/BF00862505.

Abstract

We describe six infants, from consanguineous marriages, with a new syndrome comprising the Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice and diarrhoea. In addition two of the infants were found to have abnormal platelet morphology--the grey platelet syndrome. No evidence of a recognised metabolic disorder was found in any of the six infants, nor did they appear to be typical of any previously described syndromes. Their progress was poor: they required high fluid and bicarbonate intakes and all died by the age of 6 months of dehydration, acidosis and sepsis.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Diarrhea / pathology*
  • Fanconi Syndrome / pathology*
  • Female
  • Humans
  • Ichthyosis / pathology*
  • Infant
  • Infant, Newborn
  • Jaundice / pathology*
  • Male
  • Syndrome