Deal J E, Barratt T M, Dillon M J
Department of Paediatric Nephrology, Hospital for Sick Children, London, UK.
Pediatr Nephrol. 1990 Jul;4(4):308-13. doi: 10.1007/BF00862505.
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.
我们描述了6名来自近亲婚姻家庭的婴儿，他们患有一种新的综合征，包括范科尼综合征、鱼鳞病、肌肉骨骼异常、黄疸和腹泻。此外，还发现其中2名婴儿存在血小板形态异常——灰色血小板综合征。这6名婴儿均未发现有公认的代谢紊乱证据，也不符合任何先前描述的综合征的典型特征。他们的病情进展不佳：需要大量补液和补充碳酸氢盐，最终均在6个月大时死于脱水、酸中毒和败血症。
