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索托斯综合征与皮肤松弛症。

Sotos syndrome and cutis laxa.

作者信息

Robertson S P, Bankier A

机构信息

Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

J Med Genet. 1999 Jan;36(1):51-6.

Abstract

Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report three patients with the anthropometric and dysmorphological appearance of classical Sotos syndrome in association with redundant skin folds, joint hypermobility, and, in two of the three, vesicoureteric reflux suggestive of a coexisting connective tissue disorder. All of the patients had a normal bone age suggesting that Sotos syndrome in its classically described form was not present and that this entity possibly reflects a related, perhaps allelic, condition.

摘要

索托斯综合征已被描述出具有一些提示结缔组织功能障碍的特征,包括关节过度伸展、扁平足和高拱腭。也有多种皮肤松弛综合征被描述,其中一些伴有智力发育迟缓,但尚无报告表明其与索托斯综合征的生长过度或异常面容特征有关联。我们报告了三名患者,他们具有典型索托斯综合征的人体测量学和畸形外观,同时伴有皮肤褶皱过多、关节活动过度,并且在三名患者中有两名存在膀胱输尿管反流,提示存在并存的结缔组织疾病。所有患者的骨龄均正常,这表明不存在经典描述形式的索托斯综合征,并且这种情况可能反映了一种相关的、或许是等位基因的病症。

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