Bjørnstad P G
Barnehjerteseksjonen Rikshospitalet, Oslo.
Tidsskr Nor Laegeforen. 1994 Jan 10;114(1):25-8.
The author describes the Williams-Beuren syndrome and the cases of 57 patients in an attempt to increase awareness of the syndrome, which probably is underdiagnosed. Its characteristic features are a combination of a special facial appearance and a mental condition: The face typically shows a broad, flattened upper lip, small chin, and hypoplasia of teeth, often strabism, flattened nasal bridge and fullness around the eyes. Mentally the patients appear to be happy, talkative, pleasant children, who are indiscriminatingly friendly and have serious difficulties in concentrating. Only 53% of the patients have an affected heart, of whom 93% have supravalvular aortic stenosis, peripheral pulmonic stenoses or combinations of the two. Nine patients have had heart operations. The facial features in children of different age groups and races are depicted.
作者描述了威廉姆斯-贝伦综合征及57例患者的病例,试图提高对该综合征的认识,因为它可能未得到充分诊断。其特征是特殊面容与精神状况的结合:面部通常表现为上唇宽阔扁平、下巴小、牙齿发育不全,常伴有斜视、鼻梁扁平以及眼周饱满。在精神方面,患者表现为快乐、健谈、讨人喜欢的儿童,他们不加区分地友好,且在注意力集中方面存在严重困难。只有53%的患者有心脏问题,其中93%患有瓣上主动脉狭窄、周围肺动脉狭窄或两者兼有。9名患者接受了心脏手术。文中描绘了不同年龄组和种族儿童的面部特征。