Case Report
Volume 11 Issue 3 - 2020
Fraser Syndrome in a Baby Whose Elder Siblings have Hydrocephalus. A New Causal Gene?
Miray Louis de Gonzague1*, Rafanomezantsoa Rindra2, Randrianarisoa Hoby Lalaina2, Ramanarivo Norotiana Mihaja3 and Raobela Léa2
1Department of Ophthalmology, University Hospital Tambohobe, Fianarantsoa, Madagascar
2Department of Ophthalmology, University Hospital Joseph Ravoahangy Andrianavalona, Antananarivo, Madagascar
3Department of Aptitude Medical Visit, Hospital Centre of Care and Public Health Analakely, Antananarivo, Madagascar
*Corresponding Author:Miray Louis de Gonzague, Ophthalmologist, Ophthalmology Service of University Hospital Tambohobe, Fianarantsoa, Madagascar.
Received: December 23, 2019; Published: February 07, 2020


Fraser-cryptophthalmos syndrome is a rare, autosomal recessive syndrome characterized by cryptophthalmos (hidden eye), syndactyly, ambiguous genitalia, hypertelorism, a broad depressed nasal bridge, a tongue of hair extending from temple to the brow, umbilical hernia, anal stenosis and diastasis of the symphysis. We report a case of 3-day-old baby whose siblings had hydrocephalus. He was brought to the hospital for deformities. Physical examination revealed absence of eyelids and eyebrow over both eyes. It was completely covered with skin. The nose was broad, flat with a depressed nasal bridge and a groove was present bilaterally on the nares. Ears were low set evoking a Fraser Syndrome. The exact cause of Fraser Syndrome in our patient remains a subject of discussion. Genetical research centre should be built in Madagascar because counseling before any marriage is found to be of paramount important to prevent the multiplication of such malformation.

Keywords: Anophthalmia; Fraser Syndrome; Hydrocephalus; Madagascar; Genetic Research


  1. Jones KL. “Fraser Syndrome”. In: Smith’s Recognizable Patterns of Human Malformations, ed. Jones KL. 5th edition. Philadelphia: WB Saunders Company (1997): 242-243.
  2. Slavotinek AM and Tifft CJ. “Fraser syndrome and cryptophthalmos. Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes”. Journal of Medical Genetics 39 (2002): 623-633.
  3. Barisic I., et al. “Fraser Syndrome: Epidemiological Study in a European Population”. American Journal of Medical Genetics Part A 161A (2013): 1012-1018. 
  4. Van Haelst M., et al. “Molecular study of 33 families with Fraser syndrome: New data and mutation review”. American Journal of Medical Genetics Part A 146A (2008): 2252-2257.
  5. Short K., et al. “Let’s stick together: The role of the Fras1 and Frem proteins in epidermal adhesion”. IUBMB Life 59 (2007): 427-435.
  6. Pavlakis E., et al. “The role of Fras1/Frem proteins in the structure and function of basement membrane”. The International Journal of Biochemistry and Cell Biology 43 (2011): 487-495.
  7. Yan-zaou-tou R R., et al. “Fraser Syndrome: A Report of a Case from Bamako”. International Journal of Genetics and Genomics 7.3 (2019): 72-74. 
  8. Farooqui JH., et al. “Isolated Bilateral Complete Cryptophthalmos”. Nepalese Journal of Ophthalmology 8(16) (2016): 186-188.
  9. Singh R., et al. “Fraser Syndrome: Recurrence in a Family”. Indian Pediatrics 44 (2007): 929-930. 
  10. Naher BS. “Fraser Syndrome - A Case Report”. Bangladesh Journal of Child Health 8.2 (2014): 98-100.
  11. Kristopher T Kahle., et al. “Hydrocephalus in children”. Lancet 387 (2016): 788-799.
  12. McGregor L., et al. “Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein”. Nature Genetics 34 (2003): 203-208.
  13. Jadeja S., et al. “Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs”. Nature Genetics 37 (2005): 520-555.
  14. Shafeghati Y., et al. “Fraser syndrome due to homozygosity for a splice site mutation of FREM2”. American Journal of Medical Genetics Part A 146A (2008): 529-531.
  15. Vogel MJ., et al. “Mutations in GRIP1 cause Fraser syndrome”. Journal of Medical Genetics 49 (2012): 303-306.
  16. Williamson KA and FitzPatrick DR. “The genetic architecture of microphthalmia, anophthalmia and coloboma”. European Journal of Medical Genetics 57.8 (2014): 369-380. 
  17. Gonzague ML., et al. “A case of bilateral anophtalmia combined with unilateral cleft lips and cleft palate”. World Journal of Pharmaceutical Research 8.12 (2019): 101-112. 
Citation: Miray Louis de Gonzague., et al. “Fraser Syndrome in a Baby Whose Elder Siblings have Hydrocephalus. A New Causal Gene?”. EC Ophthalmology 11.3 (2020): 01-06

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