Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome.
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.
Department of Paediatric Nephrology, Hospital for Sick Children, London, UK.
J E
JE
Deal
T M
TM
Barratt
M J
MJ
Dillon
D000015:Abnormalities, Multiple / Q000473:pathology*; D003967:Diarrhea / Q000473:pathology*; D005198:Fanconi Syndrome / Q000473:pathology*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007223:Infant; D007231:Infant, Newborn; D007565:Jaundice / Q000473:pathology*; D008297:Male; D013577:Syndrome