%0 Journal Article
%T Fraser Syndrome: A Case Report
%A Chaimae Sajoura
%A Mohammed Ech-Chebab
%A Anass Ayyad
%A Sahar Messaoudi
%A Rim Amrani
%J Open Journal of Pediatrics
%P 476-481
%@ 2160-8776
%D 2024
%I Scientific Research Publishing
%R 10.4236/ojped.2024.143046
%X Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.
%K Fraser Syndrome
%K Cryptophthalmia
%K Newborn
%K Polymalformative Syndrome
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=132621