TITLE:
Fraser Syndrome: A Case Report
AUTHORS:
Chaimae Sajoura, Mohammed Ech-Chebab, Anass Ayyad, Sahar Messaoudi, Rim Amrani
KEYWORDS:
Fraser Syndrome, Cryptophthalmia, Newborn, Polymalformative Syndrome
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.14 No.3,
April
24,
2024
ABSTRACT: 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.