EEM综合征：一个家族的报告及十年随访结果

EEM syndrome: report of a family and results of a ten-year follow-up.

作者信息

Balarin Silva V, Simões A M, Marques-de-Faria A P

机构信息

Department of Ophthalmology, State University of Campinas Medical School, São Paolo, Brazil.

出版信息

Ophthalmic Genet. 1999 Jun;20(2):95-9. doi: 10.1076/opge.20.2.95.2290.

DOI:10.1076/opge.20.2.95.2290

PMID:10420194

Abstract

We report on a Brazilian kindred in which two sibs presented with the complete form of EEM (ectodermal dysplasia, ectrodactyly, and macular dystrophy) syndrome with hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina. In this family, we also observed another sib with syndactyly, as well as a first cousin with ectrodactyly. A 10-year follow-up demonstrated gradually decreasing visual acuity and progression of retinal degenerative anomalies.

摘要

我们报告了一个巴西家族，其中两名同胞患有完全型EEM（外胚层发育不良、缺指（趾）畸形和黄斑营养不良）综合征，伴有毛发稀少、牙齿异常、并指（趾）畸形以及视网膜改变，视网膜后极有明显色素沉着。在这个家族中，我们还观察到另一名患有并指（趾）畸形的同胞，以及一名患有缺指（趾）畸形的堂兄弟。一项为期10年的随访显示视力逐渐下降，视网膜退行性异常进展。