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青光眼-晶状体异位-小球形晶状体-僵硬-身材矮小(GEMSS)综合征:一种具有韦尔-马切萨尼综合征表现的显性疾病。

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

作者信息

Verloes A, Hermia J P, Galand A, Koulischer L, Dodinval P

机构信息

Centre for Human Genetics, Liège University, Belgium.

出版信息

Am J Med Genet. 1992 Sep 1;44(1):48-51. doi: 10.1002/ajmg.1320440112.

Abstract

We report on a syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations and compare it with two previous records of short stature, lens ectopia, and articular limitation. This family confirms the existence of a dominant Weill-Marchesani-like syndrome. We suggest that it could be related to the Moore-Federman syndrome. We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.

摘要

我们报告了三代人中观察到的一种进行性关节僵硬、青光眼和晶状体脱位综合征,并将其与之前两份关于身材矮小、晶状体异位和关节受限的记录进行比较。这个家族证实了一种显性的类似Weill-Marchesani综合征的存在。我们认为它可能与Moore-Federman综合征有关。我们创造了首字母缩略词GEMSS综合征(青光眼、异位、小球形晶状体、关节僵硬、身材矮小),以将这种显性的类似Weill-Marchesani综合征与经典的隐性遗传综合征区分开来。

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