Literature DB >> 7064999

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

T E Kelly, H H Wells, K B Tuck.   

Abstract

The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.

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Year:  1982        PMID: 7064999     DOI: 10.1002/ajmg.1320110113

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


  4 in total

1.  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

2.  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

3.  Stickler's syndrome.

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

4.  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
  4 in total

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