Onís Vilches M C, Rubio Cuadrado M V, Martínez de la Iglesia J, López Granados A
Centro de Salud Occidente, Hospital Universitario Reina Sofía, Córdoba.
Rev Clin Esp. 1998 Feb;198(2):91-4.
Williams' syndrome (WS) is a rare genetic condition of autosomal dominant inheritance with varying penetrance, which consists of supravalvular aortic stenosis, a characteristic dysmorphic facies named "elf face", mental retardation and other clinical manifestations including transient infantile idiopathic hypercalcemia, growth retardation, and frequent dental problems. It usually presents sporadically, and there are only a few cases of family involvement reported in the literature. Recent studies show that mutations in the elastin gene at chromosome 7q11.23, which occur approximately in 90% of cases, could be the cause of the different clinical manifestations in this syndrome. In this paper we report a case of family involvement with five family members involved with WS (three siblings, the mother, and the siblings' maternal uncle) and all had cardiac structural disorders (supravalvular aortic stenosis being the most frequent), a characteristic face and a low intellectual coefficient. The complementary tests included blood chemistry, chest X-ray, and echocardiogram, which led to the diagnosis of the associated valve pathology. Three patients required therapeutic catheterism with Stent valve implant and valve prosthetic replacement to control cardiac manifestations.
威廉姆斯综合征（WS）是一种常染色体显性遗传的罕见病症，其外显率各异，表现为主动脉瓣上狭窄、一种名为“小精灵面容”的特征性畸形面容、智力发育迟缓以及其他临床表现，包括短暂性婴儿特发性高钙血症、生长发育迟缓及频繁的牙齿问题。该病通常为散发性，文献中仅报道了少数家族性病例。近期研究表明，7号染色体长臂11.23区域弹性蛋白基因的突变约在90%的病例中出现，可能是该综合征不同临床表现的病因。本文报告了一例家族性病例，五名家族成员患有威廉姆斯综合征（三名兄弟姐妹、母亲以及兄弟姐妹的舅舅），他们均有心脏结构紊乱（最常见的是主动脉瓣上狭窄）、特征性面容及低智力系数。辅助检查包括血液生化、胸部X线及超声心动图，从而诊断出相关瓣膜病变。三名患者需要进行带支架瓣膜植入及瓣膜置换的治疗性导管插入术以控制心脏症状。
