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.
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Deal, J.E., Barratt, T.M. & Dillon, M.J. Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea — a new syndrome. Pediatr Nephrol 4, 308–313 (1990). https://doi.org/10.1007/BF00862505
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DOI: https://doi.org/10.1007/BF00862505