Fraser Syndrome with Major Hydrocephalus

Authors: Bennaoui F*, El Idrissi Slitine N, Jalal H, Mouaffak Y and Maoulainine FMR

DOI: 10.23880/pnboa-16000117

Volume 3, Issue 2

Abstract

Fraser syndrome (Cryptophthalmos syndrome) is a rare malformative genetic syndrome. Cryptophthalmos is one of the most common features. Etiopathogenesis is controversial and the management is multidisciplinary. We report a case of Fraser syndrome with a review of the literature. The newborn was hospitalized in neonatal unit care, the University Hospital Mohamed VI, Marrakesh. With a similar case in siblings. The diagnosis was based on two major criteria: cryptophthalmos, syndactyly and a minor criterion: the labio-sphenoidal cleft. In addition, there was a major hydrocephalus with a reduction of the cerebral parenchyma. The karyotype was normal. The treatment required a multidisciplinary approach, our patient was not operable. Prenatal diagnosis is essential to make the diagnosis in time and to make a therapeutic decision. Fraser syndrome remains a major surgical and aesthetic challenge, particularly in developing countries.

Keywords: Cryptophthalmos; Fraser syndrome; Hydrocephalus; L-sphenoidal cleft; Syndactyly

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