Literature DB >> 6650564

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

R M Winter, M Baraitser, K M Laurence, D Donnai, C M Hall.   

Abstract

We report on three unrelated children with neonatal radiological characteristics of the Weissenbacher-Zweymüller (W-Z) syndrome. Subsequently, they developed the Marshall syndrome. The relationship between the W-Z, Marshall, and Stickler syndromes is discussed.

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Year:  1983        PMID： 6650564     DOI： 10.1002/ajmg.1320160209

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


  9 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Authors:  J Bonaventure; C Philippe; G Plessis; J Vigneron; C Lasselin; P Maroteaux; S Gilgenkrantz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

3.  Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

Authors:  A Verloes; L Van Maldergem; P de Marneffe; J L Dufier; P Maroteaux
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

4.  The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission. Graefe's Arch Clin Exp Ophthalmol (1994) 232:16-24.

Authors:  M P Snead; D K Newmann; A Poulson; J D Scott
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1995-12       Impact factor: 3.117

5.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

6.  Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.

Authors:  Rachel A Kahler; Sorcha M C Yingst; Luke H Hoeppner; Eric D Jensen; David Krawczak; Julia T Oxford; Jennifer J Westendorf
Journal:  Matrix Biol       Date:  2008-01-16       Impact factor: 11.583

7.  Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Pediatr Rheumatol Online J       Date:  2009-02-04       Impact factor: 3.054

8.  Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-10-24

9.  A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Authors:  Sophia B Hufnagel; K Nicole Weaver; Robert B Hufnagel; Patricia I Bader; Elizabeth K Schorry; Robert J Hopkin
Journal:  Am J Med Genet A       Date:  2014-08-04       Impact factor: 2.578
  9 in total

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