Year: 1998 Vol. 64 Ed. 1 - (9º)
Relato de Casos
Pages: 68 to 71
The Fraser Syndrome and its Otorhinolaryngeal Manifestatios: A case report.
Author(s):
Marcos Moceliin* ;
Maurício Buschle** ;
Carla Rogenski*** ;
Odilon F Neto **** ;
Luciana Gabardo Stahlke*****;
Mirian B. O. Kôning*****.
Keywords: Fraser syndrome, cryptophtalmia
Abstract:
The Fraser syndrome, described for the first time in 1962 (Fraser), is a rare chromosomic autosomal recessive disorder, being its most consistent clinical characteristic the cryptophtalmia, among other ophtalmological manifestations, associated with various cranio-facial and systemic abnormalities, including malformations of the ear (auricle,external auditory canal, middle ear or internal ear), malformations of the nose and the larynx, as well as urogenital, gastrintestinal, osteo-skeletal and central nervous system alterations. The diagnosis is made at birth, in the presence of obvious alterations, and sometimes during prenatal ultrasound scanning. The treatment is contingent on the existing malformations, and the prognosis is related to the seriousness of the associated urogenital and laryngeal malformations. As a contributions to the scarce specific informations about ORL, existing in literature we present a case which has been accompanied in our institution for the last six years, showing various characteristics of the syndrome and emphasizing the otolaryngeal alterations.
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