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ISSN: 1734-1558
Forum Ortodontyczne / Orthodontic Forum
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Sarajevo Declaration on Integrity and Visibility of Scholarly Publications
3/2020
vol. 16
 
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Opis przypadku

Zespół Pfeiffera i zespół Jacksona-Weissa. Opis przypadku

Joanna Witanowska
1
,
Małgorzata Laskowska
1
,
Małgorzata Zadurska
1

  1. Zakład Ortodoncji Warszawski Uniwersytet Medyczny/Department of Orthodontics Medical University of Warsaw
Forum Ortod 2020; 16 (3): 266-71
DOI: https://doi.org/10.5114/for.2020.100182
Data publikacji online: 2020/11/10
Plik artykułu:
- Witanowska.pdf  [2.60 MB]
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Metryki PlumX:
 
1. Genetics Home Reference /Pfeiffer Syndrome/Report 2019. available at: https//ghr.nim.nih.gov/condition/pfeiffer-syndrome/ accessed: Sep 10, 2019.
2. Genetics Home Reference /Jackson-Weiss Syndrome/Report 2019. available at: https//ghr.nim.nih.gov/condition/jackson-weiss-syndrome/ accessed: Sep 10, 2019.
3. Pfeiffer RA. Dominante erbliche Akrocephalosyndactylie. Zeitschrift für Kinderheilkunde 1964; 90: 301-20.
4. Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr 1976; 88: 963-8.
5. Ko JM. Genetic Syndromes Associated with Craniosynostosis. J Korean Neurosurg Soc 2016; 59: 187-91.
6. Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. Int J Biol Sci 2017: 13: 1479-88.
7. Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet 1997; 101: 47-50.
8. Giancotti A, D’Ambrosio V, Marchionni E, Squarcella A, Aliberti C, La Torre E, Manganaro L, Pizzuti A. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Fetal Neonatal Med 2017; 30: 2225-31.
9. National Organization for Rare Diseases (NORD) report 2018. available at: https://rarediseases.org/rare-diseases/pfeiffer-syndrome/ accessed: Sep 10, 2019.
10. Goyal I, Bansal N, Mehta V, Singh G, Arora B. Orthodontic Management of Syndromic Patients - A Review. Acta Sci Dental Sci 2018; 2: 124-31.
11. Jiang Q, Mei L, Zou Y, Ding Q, Cannon RD, Chen H, Li H. Genetic polymorphism in FGFR2 underlie skeletal malocclusion. J Dental Res 2019; 98: 1340-7.
12. Hassona Y, Al-Hadidi A, Ghlassi TA, Dali HE, Scully C. Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. Spec Care Dentist 2017; 37: 258-62.
13. Seattle Children’s Hospital Research Foundation/Surgery for Syndromes 2019. available at: https//www.seattlechildrens.org/clinics/craniofacial/services/surgery-for-syndromes/ accessed: Sep 19, 2019.
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