Shuper A, Mukamel M, Mimouni M, Steinherz R
Arch Dis Child. 1987 Feb;62(2):196-8. doi: 10.1136/adc.62.2.196.
A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.
本文报告了一名患有努南综合征且有多个咖啡牛奶斑的儿童,其大小和数量与冯雷克林霍增氏神经纤维瘤病相符。这些特征可能代表一种独特的遗传实体,而非两种疾病的巧合。