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Pediatr Nephrol. 1990 Jul;4(4):308-13.

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

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Department of Paediatric Nephrology, Hospital for Sick Children, London, UK.


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.

[Indexed for MEDLINE]

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