Bondeson J
Department of Medicine, Malmö General Hospital, University of Lund, Sweden.
Am J Med Genet. 1992 Sep 15;44(2):210-9. doi: 10.1002/ajmg.1320440218.
One of the most remarkable cases of extreme dwarfism on record is Caroline Crachami, the Sicilian Fairy. She was born in 1815, and was taken to London to be exhibited for money in 1824. Due to her proportional dwarfism, severe intrauterine growth retardation, and typical "bird-headed" profile, Caroline Crachami has by some been diagnosed as a case of the autosomal recessive Seckel syndrome. In this historical vignette, the Sicilian Fairy's life and death are presented in some detail using new material, and the problem of her correct diagnosis is discussed.
有记录以来最显著的极端侏儒症病例之一是西西里精灵卡罗琳·克拉查米。她出生于1815年,1824年被带到伦敦用于赚钱展览。由于她的比例性侏儒症、严重的宫内生长迟缓以及典型的“鸟头”面容,卡罗琳·克拉查米被一些人诊断为常染色体隐性塞克尔综合征病例。在这篇历史小品文中,利用新材料详细介绍了西西里精灵的生平与死亡,并讨论了对她正确诊断的问题。