Literature DB >> 7605793

Spinal anomalies in Pfeiffer syndrome.

M H Moore1, M L Lodge, B E Clark.   

Abstract

Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian Craniofacial Unit was performed. The prevalence of cervical spine fusions was high, and the pattern of fusion complex. Isolated anomalies were evident at lower levels, including two cases of sacrococcygeal eversion. Spinal anomalies occur more frequently in the more severely involved cases of Pfeiffer syndrome emphasizing the generalized dysostotic nature of this condition.

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Year:  1995        PMID: 7605793     DOI: 10.1597/1545-1569_1995_032_0251_saips_2.3.co_2

Source DB:  PubMed          Journal:  Cleft Palate Craniofac J        ISSN: 1055-6656


  4 in total

Review 1.  Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.

Authors:  C Corbett Wilkinson; David K Manchester; Robert F Keating; Lawrence L Ketch; Ken R Winston
Journal:  Childs Nerv Syst       Date:  2012-06-04       Impact factor: 1.475

2.  A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.

Authors:  Min Young Lee; Ga Won Jeon; Ji Mi Jung; Jong Beom Sin
Journal:  Korean J Pediatr       Date:  2010-07-31

3.  Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes.

Authors:  Jacqueline M Tabler; William B Barrell; Heather L Szabo-Rogers; Christopher Healy; Yvonne Yeung; Elisa Gomez Perdiguero; Christian Schulz; Basil Z Yannakoudakis; Aida Mesbahi; Bogdan Wlodarczyk; Frederic Geissmann; Richard H Finnell; John B Wallingford; Karen J Liu
Journal:  Dev Cell       Date:  2013-06-24       Impact factor: 12.270

4.  Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.

Authors:  Basil Z Yannakoudakis; Karen J Liu
Journal:  Rare Dis       Date:  2013-11-11
  4 in total

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