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Med Sci (Paris) ; 34 Focus issue F1: 20-25, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30403170

RESUMO

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. GS is extensively reported in literature in the Caucasian race but not in the Mongoloid race. We report a case of a 22-year-old patient with a manifestation of three features of GS - multiple osteomas, soft tissue tumors and dental anomalies in the craniofacial region, with no intestinal polyps at the time of reporting. A family pedigree with our patient as the proband was constructed and revealed 3 consecutive generations in his lineage with GS.


Assuntos
Polipose Adenomatosa do Colo/diagnóstico , Síndrome de Gardner/diagnóstico , Osteoma/diagnóstico , Neoplasias Cranianas/diagnóstico , Anormalidades Dentárias/diagnóstico , Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/patologia , Adulto , Povo Asiático , Diagnóstico Diferencial , Família , Síndrome de Gardner/complicações , Síndrome de Gardner/patologia , Humanos , Masculino , Osteoma/etiologia , Linhagem , Neoplasias Cranianas/etiologia , Tomografia Computadorizada por Raios X , Anormalidades Dentárias/complicações , Adulto Jovem
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