Pediatric Nephrology

, Volume 4, Issue 4, pp 308–313 | Cite as

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

  • Jane E. Deal
  • T. Martin Barratt
  • Michael J. Dillon
Original Article


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.

Key words

Fanconi syndrome Ichthyosis Dysmorphism Jaundice Diarrhoea Grey platelet syndrome 


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Copyright information

© IPNA 1990

Authors and Affiliations

  • Jane E. Deal
    • 1
  • T. Martin Barratt
    • 1
  • Michael J. Dillon
    • 1
  1. 1.Department of Paediatric Nephrology, Institute of Child HealthHospital for Sick ChildrenLondonUK

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