en ENGLISH
ISSN: 1734-1558
Forum Ortodontyczne / Orthodontic Forum
Bieżący numer Archiwum O czasopiśmie Rada naukowa Bazy indeksacyjne Prenumerata Kontakt Zasady publikacji prac
SCImago Journal & Country Rank
3/2020
vol. 16
 
Poleć ten artykuł:
Udostępnij:
więcej
 
 
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
Data publikacji online: 2020/11/10
Plik artykułu:
- Witanowska.pdf  [2.60 MB]
Pobierz cytowanie
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
 
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.
This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0). License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.