Literature DB >> 1536163

Congenital synspondylism.

C R Wiles1, T F Taylor, D O Sillence.   

Abstract

We present 3 patients with a specific pattern of congenital familial extensive vertebral anomalies (CFEVA) with vertebral and carpal coalition. It is proposed that these patients and two previously reported cases have a vertebral disorder akin to symphalangism in the fingers. The name synspondylism is proposed. Two instances of sib recurrence point to Mendelian segregation in some instances of synspondylism. The syndromes and associations encompassed by CEFVA are reviewed. The clinical and radiographic manifestations of congenital synspondylism are discussed in the perspective of the possible pathogenesis of segmentation disorders of the spine.

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Year:  1992        PMID: 1536163     DOI: 10.1002/ajmg.1320420305

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


  4 in total

1.  Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Authors:  D Zhang; J A Herring; S S Swaney; T B McClendon; X Gao; R H Browne; K E Rathjen; C E Johnston; S Harris; N M Cain; C A Wise
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

2.  Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Authors:  Sophia R Cameron-Christie; Constance F Wells; Marleen Simon; Marja Wessels; Candy Z N Tang; Wenhua Wei; Riku Takei; Coranne Aarts-Tesselaar; Sarah Sandaradura; David O Sillence; Marie-Pierre Cordier; Hermine E Veenstra-Knol; Matteo Cassina; Kathrin Ludwig; Eva Trevisson; Melanie Bahlo; David M Markie; Zandra A Jenkins; Stephen P Robertson
Journal:  Am J Hum Genet       Date:  2018-05-24       Impact factor: 11.025

3.  Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).

Authors:  A Al Kaissi; M Ben Ghachem; N Nassib; F Ben Chehida; K Kozlowski
Journal:  Skeletal Radiol       Date:  2004-11-16       Impact factor: 2.199

4.  Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Authors:  Claire Farrington-Rock; Veneta Kirilova; Lisa Dillard-Telm; Alexander D Borowsky; Sara Chalk; Matthew J Rock; Daniel H Cohn; Deborah Krakow
Journal:  Hum Mol Genet       Date:  2007-07-17       Impact factor: 6.150

  4 in total

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