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




Abstract

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

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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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