Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

Abdalla, Ebtesam; Zayed, L.; Issa, Noha M.; Amin, Asmaa K.

doi:10.1016/j.ejmhg.2015.10.004

Cited by 5 publications

(1 citation statement)

References 20 publications

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“…All studies agreed that there was marked clinical variability and that none of the major criteria are mandatory for diagnosis. For some authors, within a family, the phenotype and the degree of severity of the disease are strongly concordant 13 .…”

Section: Diagnostic Criteriamentioning

confidence: 99%

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

Bouaoud

Olivetto

Testelin

et al. 2020

International Journal of Oral and Maxillofacial Surgery

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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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Section: Diagnostic Criteriamentioning

confidence: 99%