Article Dans Une Revue International Journal of Oral and Maxillofacial Surgery Année : 2020

Fraser syndrome: review of the literature illustrated by a historical adult case

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Résumé

Fraser syndrome (cryptophthalmos-syndactyly syndrome) is a rare autosomal recessive malformation disorder. The first description of the syndrome was reported by George Fraser in 1962. The diagnostic is based on major criteria and minor criteria established by van Haelst et al., In 2007. Unilateral or bilateral cryptophthalmos, syndactyly, unilateral renal agenesis and genital anomalies are the most frequent anomalies. Several maxillofacial, oro-dental, ear-nose-throat, hormonal and anorectal disorders are reported. Cardiac malformations, and musculoskeletal anomalies are uncommon. The syndrome id related to mutations in three different genes (FRAS1, FREM2, and GRIP1) resulting in failure of the apoptosis program and disruption of the epithelial-mesenchymal interactions during embryonic development. Prenatal diagnosis is based on detection of renal agenesis and laryngeal atresia together with a family history. Most of the fetuses with severe anomalies are terminated or resulted in stillbirth. All patient or pregnancy with a diagnosis of FS should be referred to expert centers. For the management, a collaborative approach of anesthetists, ENT, maxillofacial surgeons, geneticists is necessary. In vivo and in vitro research models are available to better understand the underlying etiology.

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hal-03047958 , version 1 (09-12-2020)

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Jebrane Bouaoud, Matthieu Olivetto, Sylvie Testelin, Stéphanie Dakpé, Jérémie Bettoni, et al.. Fraser syndrome: review of the literature illustrated by a historical adult case. International Journal of Oral and Maxillofacial Surgery, 2020, 49 (10), pp.1245-1253. ⟨10.1016/j.ijom.2020.01.007⟩. ⟨hal-03047958⟩
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