Literature DB >> 1519650

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

A Verloes1, J P Hermia, A Galand, L Koulischer, P Dodinval.   

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.

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Year:  1992        PMID: 1519650     DOI: 10.1002/ajmg.1320440112

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Spherophakia, nanophthalmia, hypoplastic ciliary body and glaucoma in brachydactyly-associated syndromes.

Authors:  T S Dietlein; H Mietz; P C Jacobi; G K Krieglstein
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1996-08       Impact factor: 3.117

2.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Authors:  Jose Morales; Latifa Al-Sharif; Dania S Khalil; Jameela M A Shinwari; Prashant Bavi; Rahima A Al-Mahrouqi; Ali Al-Rajhi; Fowzan S Alkuraya; Brian F Meyer; Nada Al Tassan
Journal:  Am J Hum Genet       Date:  2009-11       Impact factor: 11.025

3.  Lens dislocation has a possible relationship with laser iridotomy.

Authors:  Tetsuya Mutoh; Kevin F Barrette; Yukihiro Matsumoto; Makoto Chikuda
Journal:  Clin Ophthalmol       Date:  2012-12-05

4.  Isolated Microspherophakia Presenting with Angle-Closure Glaucoma.

Authors:  Tülay Şimşek; Emrullah Beyazyıldız; Enver Şimşek; Faruk Öztürk
Journal:  Turk J Ophthalmol       Date:  2016-10-17

5.  Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome.

Authors:  Cem Evereklioglu; Yusuf Turkoz; Mustafa Calis; Fuat Duygulu; Aysun B Karabulut
Journal:  Mediators Inflamm       Date:  2004-06       Impact factor: 4.711

  5 in total

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