Preis S, Majewski F, Hantschmann R, Schumacher H, Lenard H G
Universitätskinderklinik, Düsseldorf, Germany.
Eur J Pediatr. 1996 May;155(5):385-9. doi: 10.1007/BF01955267.
The Möbius, Goldenhar and hypoglossia-hypodactyly anomalies are usually sporadic conditions with a recurrence risk of about 2%. The combination of Goldenhar and one or the two others is rare, whereas the concomitant occurrence of Möbius and hypoglossia-hypodactyly, and/or Poland, and/or Klippel-Feil anomaly is well known. Pathogenetically, vascular disruptions around the 4th embryonic week have been hypothesized. In vivo and pathological studies as well as animal models support this theory for all the above-mentioned combinations. Whether a preceding blastogenetic alteration is an influencing factor or a disorganization mutation, remains unclear. We describe a 3-year-old girl with bilateral anotia, epidermoid on the right eye, 6th and 7th nerve palsy, hypoglossia, left hypodactyly, and ventricular septal defect.
We wish to emphasize the aetiological relevance of vascular disruptions in this previously unreported combination of Möbius, Goldenhar and hypoglossia-hypodactyly anomalies. The concurrence of anomalies in this patient represents an association and not a pleiotropic syndrome.
默比厄斯综合征、戈尔登哈综合征和舌下-指发育不全异常通常为散发性疾病，复发风险约为2%。戈尔登哈综合征与另外一种或两种异常同时出现的情况较为罕见，而默比厄斯综合征与舌下-指发育不全，和/或波兰综合征，和/或克利佩尔-费尔综合征异常同时出现则较为常见。在发病机制上，有人推测在胚胎第4周左右发生了血管破坏。体内和病理研究以及动物模型均支持上述所有组合情况的这一理论。先前的胚源改变是一个影响因素还是一种组织紊乱突变，目前尚不清楚。我们描述了一名3岁女孩，患有双侧无耳畸形、右眼表皮样囊肿、第6和第7对脑神经麻痹、舌下发育不全、左手手指发育不全以及室间隔缺损。
我们希望强调血管破坏在这种先前未报道的默比厄斯综合征、戈尔登哈综合征和舌下-指发育不全异常组合中的病因学相关性。该患者多种异常同时出现代表一种关联而非多效性综合征。
