Guyot L, Dubuc M, Pujol J, Dutour O, Philip N
Anthropology Research Unit, UMR 6578 CNRS-University of La Méditerranée, Faculty of Medicine, Marseille, France.
Am J Med Genet. 2001 Apr 15;100(1):1-8. doi: 10.1002/1096-8628(20010415)100:1<1::aid-ajmg1206>3.0.co;2-6.
Microdeletions in the 22q11 region are associated with a wide range of overlapping phenotypes. The main manifestations of the syndrome include palatal anomalies such as cleft palate or velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune disorders, and minor facial anomalies. Because of the wide variability, facial changes appear to be the most constant manifestation of the syndrome and characteristic for informed physicians. The purpose of this study is to report the preliminary results of a detailed analysis of anthropometric data (35 measurements) in 15 patients (7 females and 8 males between 5 and 38 years of age, all white Europeans) with a 22q11 microdeletion. Objective anthropometric study showed that 19 measurements and 7 indexes were significantly different between 22q11 patients and normative database. The typical face showed a short forehead with an anterior vertical excess. Downslanting eyes and large binocular width were the most common anomalies in the orbital area. The nose showed anomalies with a large root, a short tip, and a narrow alar base. There was a narrowing of the mouth and thin lips. Ears were small and slightly disharmonic for the children. Statistical comparison between children (10 cases) and adults (5 cases) showed that craniofacial assessment was more demonstrative in children than in adults.
22q11区域的微缺失与一系列重叠的表型相关。该综合征的主要表现包括腭裂或腭咽闭合不全等腭部异常、圆锥动脉干心脏缺陷、低钙血症、免疫紊乱以及轻微面部异常。由于变异性广泛，面部变化似乎是该综合征最常见的表现，也是经验丰富的医生能够识别的特征。本研究的目的是报告对15例（7名女性和8名男性，年龄在5至38岁之间，均为欧洲白人）22q11微缺失患者的人体测量数据（35项测量）进行详细分析的初步结果。客观人体测量研究表明，22q11患者与正常数据库之间有19项测量值和7项指标存在显著差异。典型面部表现为前额短且垂直方向过长。眼睛向下倾斜和双眼间距大是眼眶区域最常见的异常。鼻子表现为鼻根大、鼻尖短和鼻翼基部窄等异常。嘴巴变窄且嘴唇薄。儿童的耳朵小且略显不协调。儿童（10例）和成人（5例）之间的统计比较表明，颅面评估在儿童中比在成人中更具指示性。
