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McGregor, L., Makela, V., Darling, S.M., Vrontou, S., Chalepakis, G., Roberts, C., et al. (2003) Fraser Syndrome and Mouse Blebbed Phenotype Caused by Mutations in FRAS1/Fras1 Encoding a Putative Extracellular Matrix Protein. Nature Genetics, 34, 203-208.
https://doi.org/10.1038/ng1142

has been cited by the following article:

• 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.