A case of Fraser Syndrome Diagnosed by Ultrasound as a Single Modality; Necessity of Genetic Confirmation?

Author:

Golshahi Fatemeh,Moradi Behnaz,Jabbari Forough,Ahmadi Marjan

Publisher

Farname, Inc.

Subject

Obstetrics and Gynecology,Oncology,Embryology,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. 1. Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, et al. Fraser Syndrome: Epidemiological Study in a European Population. Am J Med Genet Part A. 2013;161(5):1012-8. 2. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39(9):623-33. 3. Boyd, P. A., Keeling, J. W., and Lindenbaum, R. H. (1988). Fraser syndrome (cryptophthalmos-syndactyly syndrome): A review of eleven cases with postmortem findings. American Journal of Medical Genetics, 31(1). 4. Kalpana Kumari M K, Kamath S, Mysorekar VV, Nandini G. Fraser syndrome. Indian J Pathol Microbiol 2008;51:228-9 5. Short K, Wiradjaja F, Smyth I. Let's stick together: The role of the Fras1 and Frem proteins in epidermal adhesion. IUBMB Life. 2007;59(7):427-35. 6. Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986;25(1):85-98. 7. Van Haelst MM, Scambler PJ, Hennekam RCM, Al-Gazali L, Aytes P, Bonato A, et al. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. In: American Journal of Medical Genetics, Part A. 2007. 8. Moradi B, Asadi M, Kazemi MA, Sharifian H, Gity M, Shirazi M. Prenatal sonographic features of Fraser syndrome with multiple craniofacial abnormalities: a case report. Women's Heal. 2018;7(1):7-10. 9. Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, et al. Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenat Diagn. 2016;36(13):1270-5. 10. Berg C, Geipel A, Germer U, Pertersen-Hansen A, Koch-Dórfler M, Gembruch U. Prenatal detection of Fraser syndrome without cryptophthalmos: Case report and review of the literature. Ultrasound Obstet Gynecol. 2001;18(1):76-80. 11. Vogel, M. J., van Zon, P., Brueton, L., Gijzen, M., van Tuil, M. C., Cox, P., Schanze, D., Kariminejad, A., Ghaderi-Sohi, S., Blair, E., Zenker, M., Scambler, P. J., Ploos van Amstel, H. K., and#38

2. van Haelst, M. M. (2012). 12. McGregor, L., Makela, V., Darling, S. et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34, 203-208 (2003). 13. Gattuso J, Patton MA, Baraitser MThe clinical spectrum of the Fraser syndrome: report of three new cases and review.Journal of Medical Genetics 1987;24:549-555. 14. Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B. Fraser syndrome: review of the literature illustrated by a historical adult case. Int J Oral Maxillofac Surg 2020;49(10):1245-53. 15. Schauer, G. M., Dunn, L. K., Godmilow, L., Eagle, R. C., and#38

3. Knisely, A. S. (1990). Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. American Journal of Medical Genetics 37/(4).

4. Fraser Syndrome: Epidemiological Study in a European Population

5. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

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