Jones K L, Smith D W
J Pediatr. 1975 May;86(5):718-23. doi: 10.1016/s0022-3476(75)80356-8.
Evaluation of 19 patients with the Williams elfin facies syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that "infantile hypercalcemia, peculiar facies, supravalvular aortic stenosis" designation which was heretofore used is inappropriate. Only 32% of the patients have evidence of supravalvular aortic stenosis and not one of them has had documented hypercalcemia, including eight patients who had a serum calcium determination in the first year of life. Rather, the most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, a depressed nasal bridge with anteverted nares, and thick lips. The disorder is a sporadic occurrence of unknown etiology.
对19例威廉姆斯小精灵面容综合征患者进行评估，以便更全面地描绘该疾病的全貌，结果表明，此前使用的“婴儿高钙血症、特殊面容、瓣上主动脉狭窄”这一命名并不恰当。只有32%的患者有瓣上主动脉狭窄的证据，而且其中没有一人有高钙血症的记录，包括8例在出生后第一年进行血清钙测定的患者。相反，最一致的特征是生长发育迟缓，主要在出生后出现，轻度小头畸形伴智力缺陷，以及面部发育模式改变，包括睑裂短小、虹膜呈星状、内侧眉弓增宽、鼻梁凹陷伴鼻孔前倾、嘴唇增厚。该疾病是一种病因不明的散发性疾病。
