Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea — a new syndrome
- 59 Downloads
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 wordsFanconi syndrome Ichthyosis Dysmorphism Jaundice Diarrhoea Grey platelet syndrome
Unable to display preview. Download preview PDF.
- 1.Bergeron M, Gougoux A (1989) The renal Fanconi syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 2569–2580Google Scholar
- 3.Lutz-Richner AR, Landolt RF (1973) Familiäre Gallengangmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 28: 1–12Google Scholar
- 13.Gerrard JM, Phillips DR, Rao GHR, Plow EF, Walz DA, Ross R, Harker LA, White JG (1981) Biochemical studies of two patients with the gray platelet syndrome. J Clin Invest 66: 102–109Google Scholar
- 15.Berndt MC, Castaldi PA, Gordon S, Halley H, McPherson VJ (1983) Morphological and biochemical confirmation of gray platelet syndrome in two siblings. Aust NZ J Med 13: 387–390Google Scholar