The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity
- PMID: 6650564
- DOI: 10.1002/ajmg.1320160209
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity
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.
Similar articles
-
The ocular manifestations of Weissenbacher-Zweymuller syndrome.Eye (Lond). 2004 Dec;18(12):1258-63. doi: 10.1038/sj.eye.6701386. Eye (Lond). 2004. PMID: 15044941
-
Fountain syndrome: further delineation of the clinical syndrome and follow-up data.Genet Couns. 1996;7(3):177-86. Genet Couns. 1996. PMID: 8897038
-
Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.Am J Med Genet. 1992 Aug 1;43(6):989-95. doi: 10.1002/ajmg.1320430616. Am J Med Genet. 1992. PMID: 1415350 Review.
-
Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.Pediatrics. 1983 Feb;71(2):219-23. Pediatrics. 1983. PMID: 6823423
-
[Clinical and genetic heterogeneity in Robinow's syndrome. Report of a new case and review of the literature I].An Esp Pediatr. 1990 Jul;33(1):76-81. An Esp Pediatr. 1990. PMID: 2252296 Review. Spanish. No abstract available.
Cited by
-
Stickler's syndrome.J Med Genet. 1989 Feb;26(2):119-26. doi: 10.1136/jmg.26.2.119. J Med Genet. 1989. PMID: 2918540 Free PMC article. No abstract available.
-
Novel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in Three Generations of a Bulgarian Family.Balkan J Med Genet. 2021 Jul 27;24(1):95-98. doi: 10.2478/bjmg-2021-0001. eCollection 2021 Jun. Balkan J Med Genet. 2021. PMID: 34447665 Free PMC article.
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
-
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.J Med Genet. 1990 Jul;27(7):467-71. doi: 10.1136/jmg.27.7.467. J Med Genet. 1990. PMID: 2395168 Free PMC article.
-
The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission. Graefe's Arch Clin Exp Ophthalmol (1994) 232:16-24.Graefes Arch Clin Exp Ophthalmol. 1995 Dec;233(12):805-6. doi: 10.1007/BF00184095. Graefes Arch Clin Exp Ophthalmol. 1995. PMID: 8626092 No abstract available.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases