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Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.
Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Chemke J, et al. Am J Med Genet. 1992 Aug 1;43(6):989-95. doi: 10.1002/ajmg.1320430616. Am J Med Genet. 1992. PMID: 1415350 Review.
The Weissenbacher-Zweymuller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. ...A critical analysis of all published patients with WZS in addition to 5 patients in …
The Weissenbacher-Zweymuller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal wide …
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. ...Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mut …
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. . …
The ocular manifestations of Weissenbacher-Zweymuller syndrome.
Rabinowitz R, Gradstein L, Galil A, Levy J, Lifshitz T. Rabinowitz R, et al. Eye (Lond). 2004 Dec;18(12):1258-63. doi: 10.1038/sj.eye.6701386. Eye (Lond). 2004. PMID: 15044941
PURPOSE: Weissenbacher-Zweymuller syndrome (WZS) is an autosomal recessive disorder of delayed skeletal maturation. ...CONCLUSIONS: Ocular manifestations of WZS differ from those in Stickler syndrome, indicating that the two likely represent distinct c …
PURPOSE: Weissenbacher-Zweymuller syndrome (WZS) is an autosomal recessive disorder of delayed skeletal maturation. ... …
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. Harel T, et al. Am J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Am J Med Genet A. 2005. PMID: 15558753
Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome …
Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfis …
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. Pihlajamaa T, et al. Am J Med Genet. 1998 Nov 2;80(2):115-20. doi: 10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9805126
The original patient with the Weissenbacher-Zweymuller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). ...The results here and those published previously indicate that the Weissenbacher-Zweymul …
The original patient with the Weissenbacher-Zweymuller syndrome was analyzed for mutations in two candidate genes expre …
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
Haller JO, Berdon WE, Robinow M, Slovis TL, Baker DH, Johnson GF. Haller JO, et al. Am J Roentgenol Radium Ther Nucl Med. 1975 Dec;125(4):936-43. doi: 10.2214/ajr.125.4.936. Am J Roentgenol Radium Ther Nucl Med. 1975. PMID: 813535
Two patients are reported with the clinical and roentgenographic findings of the Weissenbacher-Zweymuller syndrome. The features are neonatal micrognathia (Pierre Robin syndrome), rhizomelic chondrodysplasia with dumbbell shaped femur and …
Two patients are reported with the clinical and roentgenographic findings of the Weissenbacher-Zweymuller syndrome. The …
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.
Galil A, Carmi R, Goldstein E, Porter B, Bar Ziv J, Chemke J. Galil A, et al. Dev Med Child Neurol. 1991 Dec;33(12):1104-9. doi: 10.1111/j.1469-8749.1991.tb14834.x. Dev Med Child Neurol. 1991. PMID: 1723388
A child with the distinguishing characteristics of Weissenbacher-Zweymuller syndrome (WZS), a rare syndrome characterized by multiple skeletal and radiological abnormalities, dwarfism and developmental delays, was followed from birth to eight years. .. …
A child with the distinguishing characteristics of Weissenbacher-Zweymuller syndrome (WZS), a rare syndrome char …
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ. Chakchouk I, et al. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Mol Genet Genomics. 2015. PMID: 25633957 Free PMC article.
HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller …
HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also …
Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect.
Ramer JC, Eggli K, Rogan PK, Ladda RL. Ramer JC, et al. Am J Med Genet. 1993 Mar 1;45(5):614-8. doi: 10.1002/ajmg.1320450520. Am J Med Genet. 1993. PMID: 8456835
Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymuller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. ...
Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymuller syndrome (WZ …
The Weissenbacher-Zweymuller syndrome: possible neonatal expression of the Stickler syndrome.
Kelly TE, Wells HH, Tuck KB. Kelly TE, et al. Am J Med Genet. 1982 Jan;11(1):113-9. doi: 10.1002/ajmg.1320110113. Am J Med Genet. 1982. PMID: 7064999
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-Zweymuller syndrome is in fact a variant of the Stickler syndrom …
We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome …
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