Morand P, Chantepie A, Moraine C
Arch Mal Coeur Vaiss. 1978 Oct;71(10):1154-9.
The authors report two cases of infants with complex heart disease comprising transposition of the great vessels, and a major unilateral facial anomaly involving the ear and the mandible, conforming to the description of hemifacial microsomia. The facial anomalies seen are defined and placed in the classification of known syndromes. The incidence of heart disease associated with facial microsomia is about 20% and in 2/3 of cases it is a ventricular septal defect or a tetralogy of Fallot. An analysis of aetiological factors shows that syndromes of the first two branchial arches are usually sporadic and that they may be the result of intra-uterine disease. The mechanism of the facial lesions is probably vascular.
作者报告了两例患有复杂心脏病（包括大动脉转位）的婴儿，同时伴有涉及耳朵和下颌骨的严重单侧面部异常，符合半侧颜面短小畸形的描述。所观察到的面部异常被明确界定并归入已知综合征的分类中。与半侧颜面短小畸形相关的心脏病发病率约为20%，其中三分之二的病例为室间隔缺损或法洛四联症。对病因学因素的分析表明，前两个鳃弓的综合征通常是散发性的，可能是子宫内疾病的结果。面部病变的机制可能是血管性的。
