Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype
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DOI：
10.1002/ajmg.a.35285
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发表时间：
2012-05-01
影响因子：
2
通讯作者：
Allanson, Judith E.
中科院分区：
文献类型：
--
作者：
Nowaczyk, Malgorzata J. M.;Tan, Mattea;Allanson, Judith E.
SmithLemliOpitz综合征（SLOS）是一种由胆固醇合成缺陷引起的常染色体隐性疾病，其导致广泛的表型谱，包括多种畸形、独特的面部外观和智力残疾。这项人体测量和观察研究的目的是确定SLOS患者的关键面部特征，并评估面部表型随年龄的演变。临床照片获得了51例SLOS和标准化的面部人体测量进行了42，年龄范围从6个月到20岁。对于每个个体，获得22个标准化的颅骨和面部测量值，并与已发表的年龄和性别匹配的对照组进行比较。比较了性别、不同年龄组、诊断时血浆胆固醇浓度和身体严重程度评分之间的颅面模式轮廓。根据先前发表的方法，计算并比较了面部整体尺寸的测量均值Z和颅面变异指数（CVI），颅面偏离正常的人体测量总结。特征性颅面轮廓普遍存在：窄额、短头、短睑裂、短鼻嵴、鼻孔前倾、平面、正常下颌宽度和下颌后缩。SLOS患者的面部测量值与正常人的偏差更大，平均CVI为2.11，SD=0.47（对照组：平均值=0.76，SD=0.19;
SmithLemliOpitz syndrome (SLOS), is an autosomal recessive condition caused by cholesterol synthesis deficiency which results in a wide phenotypic spectrum which includes multiple malformations, distinctive facial appearance, and intellectual disability. This anthropometric and observational study was carried out to define the key facial characteristics of individuals with SLOS and to evaluate evolution of the facial phenotype with age. Clinical photographs were obtained on 51 subjects with SLOS and standardized facial anthropometry was performed on 42; the ages ranged from 6 months to 20 years. For each individual, 22 standardized cranial and facial measurements were obtained and compared to published age- and sex-matched controls. Craniofacial pattern profiles were compared between sexes, various age groups, plasma cholesterol concentration at the time of diagnosis, and physical severity score. Mean-Z, a measurement of overall facial size, and craniofacial variability index (CVI), a summary anthropometric measure of craniofacial deviation from the norm, were calculated and compared according to methods published previously. A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal ridge, anteverted nares, flat face, normal jaw width, and retrognathia. The facial measurements of subjects with SLOS had higher deviations from the norm with mean CVI of 2.11; SD=0.47 (controls: Mean=0.76, SD=0.19;