Cerebro‐facio‐articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome
Cerebro‐facio‐articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome
复制标题
Van Maldergem 脑面关节综合征：确认一种新的 MR/MCA 综合征
作者：
G. Zampino;C. Colosimo;F. Balducci;P. Mariotti;Fabrizio Serra;G. Scarano;P. Mastroiacovo
货车Maldergem等（1992）描述了一例11岁女孩的新综合征，其特征为：智力低下、张力减退、畸形面容伴内眦赘皮、内眦赘皮、宽扁鼻、大倒W形嘴、畸形耳、手指弯曲和关节过度松弛。在本报告中，我们介绍了一名5岁女孩，其临床表现非常相似。我们确认这种情况作为一个独立的临床实体的存在，我们建议，根据主要的临床表现，它应该被定义为“脑面关节”综合征。
Van Maldergem et al. (1992) described a new syndrome in an 11‐year‐old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W‐shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5‐year‐old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as “cerebro‐facio‐articular” syndrome.