Literature DB >> 7727489

Pfeiffer syndrome: a clinical review.

M H Moore1, S B Cantrell, J A Trott, D J David.   

Abstract

The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.

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Year:  1995        PMID: 7727489     DOI: 10.1597/1545-1569_1995_032_0062_psacr_2.3.co_2

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


  9 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.  Cloverleaf skull deformity and hydrocephalus.

Authors:  Guilherme Machado; Federico Di Rocco; Christian Sainte-Rose; Philippe Meyer; Daniel Marchac; Gaëlle Macquet-Nouvion; Eric Arnaud; Dominique Renier
Journal:  Childs Nerv Syst       Date:  2011-09-17       Impact factor: 1.475

Review 3.  A case of Pfeiffer syndrome.

Authors:  Moon Sung Park; Jae Eon Yoo; Jaiho Chung; Soo Han Yoon
Journal:  J Korean Med Sci       Date:  2006-04       Impact factor: 2.153

4.  Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review.

Authors:  Rohit K Singh; Jitendra Singh Verma; Arun K Srivastava; Awadhesh K Jaiswal; Sanjay Behari
Journal:  J Pediatr Neurosci       Date:  2010-01

Review 5.  Nervous system involvement in Pfeiffer syndrome.

Authors:  Ioannis N Mavridis; Desiderio Rodrigues
Journal:  Childs Nerv Syst       Date:  2020-10-20       Impact factor: 1.475

6.  Ophthalmic considerations in patients with Pfeiffer syndrome.

Authors:  Jeremy D Clark; Christopher J Compton; Youssef Tahiri; William R Nunery; Hui Bae Harold Lee
Journal:  Am J Ophthalmol Case Rep       Date:  2016-04-07

7.  Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.

Authors:  Mohamed Adel; Tetsutaro Yamaguchi; Daisuke Tomita; Takatoshi Nakawaki; Yong-Il Kim; Yu Hikita; Shugo Haga; Masahiro Takahashi; Mohamed A Nadim; Akira Kawaguchi; Mutsumi Isa; Walid H El-Kenany; Abbadi A El-Kadi; Soo-Byung Park; Hajime Ishida; Koutaro Maki; Ryosuke Kimura
Journal:  PLoS One       Date:  2017-01-27       Impact factor: 3.240

8.  ViceCT and whiceCT for simultaneous high-resolution visualization of craniofacial, brain and ventricular anatomy from micro-computed tomography.

Authors:  Sergi Llambrich; Jens Wouters; Uwe Himmelreich; Mara Dierssen; James Sharpe; Willy Gsell; Neus Martínez-Abadías; Greetje Vande Velde
Journal:  Sci Rep       Date:  2020-10-30       Impact factor: 4.379

9.  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
  9 in total

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