International Journal of Genetics and Genomics

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Fraser Syndrome: A Report of a Case from Bamako

Received: Aug. 08, 2019    Accepted: Aug. 26, 2019    Published: Sep. 09, 2019
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Abstract

Fraser syndrome is a rare autosomal resecessive polymalformatif syndrome whose main manifestations are: the cryptophtalmia, syndactylies, visceral and urogenital defects. We report the case of a 6 year old child, 3rd child of a sibling of 3 children from consanguineous marriage, without antecedents personal and family, received in consultation at CHU-IOTA for unilateral symblepharon, syndactyly of 2nd and 3rd interdigital spaces without any other organic defects. The diagnosis of Frazer syndrome has been retained and the child is referred to the team of annexes and orbito-palpebral surgery for better surgical management of cryptophtalmia and parents were referred to the geneticist for genetic counselling regarding future pregnancies. We emphasize the genetic aspects, utility of Tomas’ diagnostic critéria and necessity of prenatal diagnosis.

DOI 10.11648/j.ijgg.20190703.16
Published in International Journal of Genetics and Genomics ( Volume 7, Issue 3, September 2019 )
Page(s) 72-74
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Fraser Syndrom, Cryptoptalmia, Syndactyly, MALI

References
[1] B. Allali, M. Hamdani, H. Lamani, L. Rais, M. Benhaddou, A. Kettani, D. Lahbil, A. Amroui, K. Zaghloul. Syndrome de Fraser à propos d’un cas. J. Fr. Ophtalmol., 2006; 29, 2: 184-187.
[2] Y. UTEZA. Affections génétiques des paupières. In Rapport de la société Française d‘ophtalmologie: Œil et Génétique. Edition: Masson, France, 2005: pp 77-85. ISBN: 2-294-01968-7.
[3] A M Slavotinek, C J Tifft. Fraser syndrome and cryptophtalmos: review of the diagnostic criteria and evidence phenotypic modules in complex malformation syndromes. J Med Genet 2002; 39: 623-633.
[4] ATIPO-TSIBA PW. Syndrome de Fraser: à propos d’un cas. RMJ, 2015; 72 (4): 29-30.
[5] Barisic I1, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Boyd PA, Draper ES, Gatt M, Haeusler M, Khoshnood B, Latos-Bielenska A, McDonnell B, Pierini A, Rankin J, Rissmann A, Queisser-Luft A, Verellen-Dumoulin C, Stone D, Tenconi R. Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 2013 May; 161 A (5): 1012-8. doi: 10.1002/ajmg.a.35839.Epub 2013 Mar 26.
[6] Zouheir Hafidi, Rajae Daoudi. Anophtalmie bilatérale au cours du syndrome dr Fraser: à propos d’un cas. Pan African Medical Journal. 2013; 15: 118. Doit: 10.11604/pamj.2013.15.118.3037.
[7] Pankaj Prasun, Mandakini Pradhan and Himanshu Goel. Intrafamilial variability in Fraser syndrome. Prenat Diagn 2007; 27: 778-782.
[8] A. Touré, I. A. Diomandé, H. Nouraly, R. Bérété, K. V. Koffi, L. Kodjikian. Cryptophtalmie bilatérale dans un syndrome de Fraser: à propos d’un cas et revue de la littérature. J. Fr. d’Ophtalmol. (2015) 38, e97-e100.
[9] Slavotinek A., Li C., Sherr E. H., Chudley A. E. 2006. Mutation Analysis of the FRAS1 gene demontrates new mutations in a propositus with Fraser syndrome. Am J Med Genet Part A 140A: 1909-1914.
[10] Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A: 529-531.
[11] Petrou P, Pavlakis E, Dalezios Y, Chalepakis G. basement membrane localization of Frem3 independent of the Fras1/Frem1/Frem2 protein complex with in the sublamina densa. Matrix Biol 2007; 26: 652-8.
[12] C. BERG, A. GEIPEZ, U. GERNER, A. PERTERSEN-HANSEN, M. KOCH-DÖRFLER, U. GEMBRUCH. Prenatal detection of Fraser syndrome without cryptophtalmos: case report and review of the littérature. Ultrasound Obstet Gynecol 2001; 18: 76-80.
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  • APA Style

    Rodrigue Romuald Elien Gagnan Yan-zaou-tou, Seydou Bakayoko, Seydou Diallo, Aïssata Simaga, Hamadoun Diallo, et al. (2019). Fraser Syndrome: A Report of a Case from Bamako. International Journal of Genetics and Genomics, 7(3), 72-74. https://doi.org/10.11648/j.ijgg.20190703.16

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    ACS Style

    Rodrigue Romuald Elien Gagnan Yan-zaou-tou; Seydou Bakayoko; Seydou Diallo; Aïssata Simaga; Hamadoun Diallo, et al. Fraser Syndrome: A Report of a Case from Bamako. Int. J. Genet. Genomics 2019, 7(3), 72-74. doi: 10.11648/j.ijgg.20190703.16

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    AMA Style

    Rodrigue Romuald Elien Gagnan Yan-zaou-tou, Seydou Bakayoko, Seydou Diallo, Aïssata Simaga, Hamadoun Diallo, et al. Fraser Syndrome: A Report of a Case from Bamako. Int J Genet Genomics. 2019;7(3):72-74. doi: 10.11648/j.ijgg.20190703.16

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  • @article{10.11648/j.ijgg.20190703.16,
      author = {Rodrigue Romuald Elien Gagnan Yan-zaou-tou and Seydou Bakayoko and Seydou Diallo and Aïssata Simaga and Hamadoun Diallo and Mahamat Adam Dicko and Jean Michel Mbaïkoua and Barmax Bodjerno Dossou and Mamassilé Clement Bagouya and Japhet Pobanou Thera},
      title = {Fraser Syndrome: A Report of a Case from Bamako},
      journal = {International Journal of Genetics and Genomics},
      volume = {7},
      number = {3},
      pages = {72-74},
      doi = {10.11648/j.ijgg.20190703.16},
      url = {https://doi.org/10.11648/j.ijgg.20190703.16},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.ijgg.20190703.16},
      abstract = {Fraser syndrome is a rare autosomal resecessive polymalformatif syndrome whose main manifestations are: the cryptophtalmia, syndactylies, visceral and urogenital defects. We report the case of a 6 year old child, 3rd child of a sibling of 3 children from consanguineous marriage, without antecedents personal and family, received in consultation at CHU-IOTA for unilateral symblepharon, syndactyly of 2nd and 3rd interdigital spaces without any other organic defects. The diagnosis of Frazer syndrome has been retained and the child is referred to the team of annexes and orbito-palpebral surgery for better surgical management of cryptophtalmia and parents were referred to the geneticist for genetic counselling regarding future pregnancies. We emphasize the genetic aspects, utility of Tomas’ diagnostic critéria and necessity of prenatal diagnosis.},
     year = {2019}
    }
    

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    AU  - Seydou Bakayoko
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    AU  - Hamadoun Diallo
    AU  - Mahamat Adam Dicko
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    AU  - Barmax Bodjerno Dossou
    AU  - Mamassilé Clement Bagouya
    AU  - Japhet Pobanou Thera
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    T2  - International Journal of Genetics and Genomics
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    JO  - International Journal of Genetics and Genomics
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    AB  - Fraser syndrome is a rare autosomal resecessive polymalformatif syndrome whose main manifestations are: the cryptophtalmia, syndactylies, visceral and urogenital defects. We report the case of a 6 year old child, 3rd child of a sibling of 3 children from consanguineous marriage, without antecedents personal and family, received in consultation at CHU-IOTA for unilateral symblepharon, syndactyly of 2nd and 3rd interdigital spaces without any other organic defects. The diagnosis of Frazer syndrome has been retained and the child is referred to the team of annexes and orbito-palpebral surgery for better surgical management of cryptophtalmia and parents were referred to the geneticist for genetic counselling regarding future pregnancies. We emphasize the genetic aspects, utility of Tomas’ diagnostic critéria and necessity of prenatal diagnosis.
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Author Information
  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Institute of African Tropical Ophthalmology, Bamako, Mali

  • Section