Fraser Syndrome: A Report of a Case from Bamako

Rodrigue Romuald Elien Gagnan Yan-zaou-tou; Seydou Bakayoko; Seydou Diallo; Aïssata Simaga; Hamadoun Diallo; Mahamat Adam Dicko; Jean Michel Mbaïkoua; Barmax Bodjerno Dossou; Mamassilé Clement Bagouya; Japhet Pobanou Thera

doi:doi:10.11648/j.ijgg.20190703.16

Fraser Syndrome: A Report of a Case from Bamako

Rodrigue Romuald Elien Gagnan Yan-zaou-tou, Seydou Bakayoko, Seydou Diallo, Aïssata Simaga, Hamadoun Diallo, Mahamat Adam Dicko, Jean Michel Mbaïkoua, Barmax Bodjerno Dossou, Mamassilé Clement Bagouya, Japhet Pobanou Thera

Published in International Journal of Genetics and Genomics (Volume 7, Issue 3)

Received: 8 August 2019 Accepted: 26 August 2019 Published: 9 September 2019

Views: Downloads:

Download PDF

Share This Article

Twitter
Linked In
Facebook

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 2^nd and 3^rd 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.

Published in	International Journal of Genetics and Genomics (Volume 7, Issue 3)
DOI	10.11648/j.ijgg.20190703.16
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), 2019. 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.

Cite This Article

Plain Text BibTeX RIS

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

Copy | Download

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

Copy | Download

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

Copy | Download

@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://article.sciencepublishinggroup.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}
}

Copy | Download

TY  - JOUR
T1  - Fraser Syndrome: A Report of a Case from Bamako
AU  - Rodrigue Romuald Elien Gagnan Yan-zaou-tou
AU  - Seydou Bakayoko
AU  - Seydou Diallo
AU  - Aïssata Simaga
AU  - Hamadoun Diallo
AU  - Mahamat Adam Dicko
AU  - Jean Michel Mbaïkoua
AU  - Barmax Bodjerno Dossou
AU  - Mamassilé Clement Bagouya
AU  - Japhet Pobanou Thera
Y1  - 2019/09/09
PY  - 2019
N1  - https://doi.org/10.11648/j.ijgg.20190703.16
DO  - 10.11648/j.ijgg.20190703.16
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 72
EP  - 74
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20190703.16
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.
VL  - 7
IS  - 3
ER  -

Copy | Download

Author Information

Rodrigue Romuald Elien Gagnan Yan-zaou-tou

Institute of African Tropical Ophthalmology, Bamako, Mali
Seydou Bakayoko

Institute of African Tropical Ophthalmology, Bamako, Mali
Seydou Diallo

Institute of African Tropical Ophthalmology, Bamako, Mali
Aïssata Simaga
Hamadoun Diallo

Institute of African Tropical Ophthalmology, Bamako, Mali
Mahamat Adam Dicko

Institute of African Tropical Ophthalmology, Bamako, Mali
Jean Michel Mbaïkoua
Barmax Bodjerno Dossou

Institute of African Tropical Ophthalmology, Bamako, Mali
Mamassilé Clement Bagouya

Institute of African Tropical Ophthalmology, Bamako, Mali
Japhet Pobanou Thera

Institute of African Tropical Ophthalmology, Bamako, Mali

Download PDF

Sections

Plain Text BibTeX RIS

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

Copy | Download

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

Copy | Download

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

Copy | Download

@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://article.sciencepublishinggroup.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}
}

Copy | Download

TY  - JOUR
T1  - Fraser Syndrome: A Report of a Case from Bamako
AU  - Rodrigue Romuald Elien Gagnan Yan-zaou-tou
AU  - Seydou Bakayoko
AU  - Seydou Diallo
AU  - Aïssata Simaga
AU  - Hamadoun Diallo
AU  - Mahamat Adam Dicko
AU  - Jean Michel Mbaïkoua
AU  - Barmax Bodjerno Dossou
AU  - Mamassilé Clement Bagouya
AU  - Japhet Pobanou Thera
Y1  - 2019/09/09
PY  - 2019
N1  - https://doi.org/10.11648/j.ijgg.20190703.16
DO  - 10.11648/j.ijgg.20190703.16
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 72
EP  - 74
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20190703.16
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.
VL  - 7
IS  - 3
ER  -

Copy | Download