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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as well as numerous other anomalies are encountered. We present four cases that have been treated at the Hospital for Sick Children in the last ten years, and describe the various ENT anomalies characteristic of this syndrome.
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PMID:ENT manifestations of Fraser syndrome. 154 80

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.
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PMID:[Renal agenesis and the Fraser syndrome: 4 observations]. 263 14

Rupture of the round window membrane is thought to be important in the pathogenesis of sudden hearing loss. In 1982 Fraser and Flood proposed an audiometric test to improve the indication for tympanoscopy which, in their experience, verified the diagnosis of perilymph fistulae in a high percentage of cases. Between 1 January 1986 and 30 June 1988 the above test was carried out on 74 patients at the ENT Department of the University of Hamburg. In 41 cases a tympanoscopy was performed. In 13 cases with a positive test result not a single perilymphatic fistula could be found intra-operatively, while in 3 cases of rupture the test was negative. In our experience this test is not helpful for the pre-operative assessment of tympanotomy in sudden hearing loss.
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PMID:[Personal experiences with audiometric detection of perilymph fistulas]. 270 83

Fraser syndrome is an uncommon genetic disorder characterized by multiple congenital abnormalities. Newborns afflicted with this syndrome have abnormalities of the eyes, ears, nose, larynx, palate, extremities and urogenital system. A review of the literature shows a deficiency in the description of the ENT abnormalities. Most articles have appeared in the ophthalmologic literature with emphasis on the obvious ocular abnormalities. In this paper we will describe in detail, the ear, nose and throat abnormalities in a two-year-old child with Fraser syndrome.
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PMID:ENT abnormalities associated with Fraser syndrome: case report and literature review. 321 46

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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PMID:Fraser syndrome: review of the literature illustrated by a historical adult case. 3198 35