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2016, Number 1

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Medicentro 2016; 20 (1)

Pfeiffer syndrome. Presentation of an affected family

Santana HEE, Tamayo CVJ
Full text How to cite this article

Language: Spanish
References: 9
Page: 81-85
PDF size: 204.68 Kb.


Key words:

acrocephalosyndactylia.

Text Extraction

No abstract.


REFERENCES

  1. Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms. Am J Audiol [internet]. 2014 Jun. [citado 15 sep. 2014];23(2):[aprox. 7 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131981/

  2. Ettinger N, Williams M, Phillips JA. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. J Craniofac Surg [internet]. 2013 [citado 15 sep. 2014];24(5):[aprox. 4 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Variable+expressivity+and+clinical+heterogeneity+ can+complicate+the+diagnosis+and+management+of+Pfeiffer+syndrome

  3. Wiwanitkit V. FGFR mutation in Pfeiffer syndrome. J Craniofac Surg. 2013 Jul.;24(4):1503.

  4. Buchanan EP, Xue AS, Hollier LH Jr. Craniofacial syndromes. Plast Reconstr Surg [internet]. 2014 Jul. [citado 15 sep. 2014];134(1):[aprox. 25 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25028828

  5. Martelli Júnior H, Nascimento de Aquino S, Assis Machado R, Lima Leăo L, Della Coletta R, Burle-Aguiar MJ. Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. Med Oral Patol Oral Cir Bucal [internet]. 2014 Aug. 17 [citado 15 sep. 2014];20(1):[aprox. 7 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320421/

  6. Kalathia MB, Parikh YN, Dhami MD, Hapani PT. Pfeiffer syndrome. J Pediatr Neurosci [internet]. 2014 Jan.-Apr. [citado 15 sep. 2014];9(1):[aprox. 3 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040047/

  7. Kouga T, Tanoue K, Matsui K. Airway statuses and nasopharyngeal airway use for airway obstruction in syndromic craniosynostosis. J Craniofac Surg [internet]. 2014 May. [citado 15 sep. 2014];25(3):[aprox. 4 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24820706

  8. Cerrato FE, Nuzzi LC, Theman TA, Taghinia A, Upton J, Labow BI. Upper extremity anomalies in Pfeiffer syndrome and mutational correlations. Plast Reconstr Surg [internet]. 2014 May. [citado 15 sep. 2014];133(5):[aprox. 8 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24776567

  9. Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, et al. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatr Neurol [internet]. 2014 Jan. 11 [citado 15 sep. 2014];50(5):[aprox. 9 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24656465




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Medicentro. 2016;20