Fraser syndrome: review of the literature illustrated by a historical adult case |
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| Affiliation: | 1. Department of Maxillofacial Surgery, University Hospital of Amiens, Amiens, France;2. Department of Maxillofacial Surgery and Stomatology, Pitié-Salpétrière Hospital, Pierre et Marie Curie University Paris 6, Sorbonne Paris Cite University, AP–HP, Paris, France;1. Department of Oral and Maxillofacial Surgery, Regional Independent Administrative Corporation Naha City Hospital, Naha, Okinawa, Japan;2. Division of Oral Pathology, Faculty of Dentistry and Graduate School of Medical and Dental science, Niigata University, Niigata, Japan;1. Department of Oral and Maxillofacial Surgery, Dental Research Centre, Dental Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran;2. Department of Oral and Maxillofacial Pathology, Dental Research Centre, Dental Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran;3. Department of Oral and Maxillofacial Surgery, Dental School, Shahrekord University of Medical Sciences, Shahrekord, Iran;4. Department of Prosthodontics, Dental School, Isfahan University of Medical Sciences, Isfahan, Iran;1. Department of Physiological Sciences, Piracicaba Dental School, University of Campinas – UNICAMP – Piracicaba, São Paulo, Brazil;2. Faculdade São Leopoldo Mandic, Instituto de Pesquisas São Leopoldo Mandic, Área de Fisiologia, Campinas, São Paulo, Brazil;1. Federal State Autonomous Institution “National Medical Research Centre of Children’s Health”, Russian Federation Ministry of Health, Moscow, Russia;2. Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov, First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia;1. State Key Laboratory of Military Stomatology and National Clinical Research Centre for Oral Diseases, and Department of Oral and Maxillofacial Surgery, School of Stomatology, the Fourth Military Medical University, Xi’an, China;2. State Key Laboratory of Military Stomatology and National Clinical Research Centre for Oral Diseases, School of Stomatology, the Fourth Military Medical University, Xi’an, China |
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| Abstract: | 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. Diagnosis is based on the major 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 is 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 the detection of renal agenesis and laryngeal atresia, together with a family history. Most foetuses with severe anomalies are terminated or are stillborn. All patients or pregnancies with a diagnosis of Fraser syndrome should be referred to expert centres. A collaborative approach including anaesthetists, ENT specialists, maxillofacial surgeons, and geneticists is necessary for the management of this syndrome. In vivo and in vitro research models are available to better understand the underlying aetiology. |
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| Keywords: | Fraser syndrome cryptophthalmos syndactyly rare conditions genetic autosomal recessive |
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