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[家族性皮肤-软骨-角膜营养不良(弗朗索瓦综合征)(作者译)]

[Familial dermo-chondro-corneal dystrophy (François' syndrome) (author's transl)].

作者信息

Ruiz-Maldonado R, Tamayo L, Velazquez E

出版信息

Ann Dermatol Venereol. 1977 Jun-Jul;104(6-7):475-8.

PMID:302664
Abstract

The François' syndrome associates disseminated firm nodular subcutaneous lesions, a deforming arthropathy and a corneal dystrophy. Inheritance seems to be recessive. Six cases of this rare syndrome have been previously published. The syndrome is reported here in two Mexican brothers. In the authors' opinion the François' syndrome is not related to the xanthomatoses. It should be considered as a genetically recessive arthropathic nodular fibromatosis.

摘要

弗朗索瓦综合征伴有弥漫性坚实结节性皮下病变、变形性关节病和角膜营养不良。遗传方式似乎为隐性。此前已发表过6例这种罕见综合征的病例。本文报道了两名墨西哥兄弟患该综合征的情况。作者认为,弗朗索瓦综合征与黄瘤病无关。应将其视为一种常染色体隐性关节病性结节性纤维瘤病。

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