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      Síndrome de Gardner Translated title: Gardner´s syndrome

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          Abstract

          El síndrome de Gardner, una variante de la poliposis adenomatosa familiar, es una enfermedad hereditaria autosómica dominante caracterizada por la presencia combinada de múltiples pólipos intestinales y manifestaciones extraintestinales que incluyen osteomas múltiples, tumores del tejido conectivo carcinoma de tiroides hipertrofia del epitelio pigmentado de la retina, también son frecuentes la presencia de dientes supernumerarios retenidos y odontomas. Se presenta un caso clínico de un paciente masculino, de 20 años de edad que acude a consulta por presentar aumento de volumen en tres localizaciones de la región facial. Radiográficamente se constataron las imágenes radiopacas características del osteoma y con la rectosigmoidescopia la presencia de pólipos intestinales. La intervención quirúrgica de los osteomas se realizó bajo anestesia general que incluyó condilectomía del lado izquierdo. El diagnóstico histopatológico fue de osteoma ebúrneo. Un año después del procedimiento se observó clínicamente recuperación estética y funcional y radiográficamente buena regeneración ósea en al ángulo mandibular donde se encontraba el osteoma de mayor diámetro. El paciente ha tenido hasta la actualidad una evolución muy satisfactoria, con excelente apertura bucal. El objetivo es describir el manejo que se tuvo con un paciente con síndrome de Gardner en el Servicio de Cirugía Maxilofacial de Artemisa.

          Translated abstract

          Gardner's syndrome, a variant of familial adenomatous polyposis, is a dominant autosomal inherited disease characterized by multiple intestinal polyps together with extra-intestinal manifestations including multiple osteomas, connective tissue tumors, thyroid carcinomas, hypertrophied pigmented epithelium of the retina, and also frequent retained supernumerary teeth and odontomas. The objective of this paper was to describe the management of a patient with Gardner's syndrome at the maxillofacial surgery service in the province of Artemisa. The clinical case of a male patient aged 20 years, who went to the maxillofacial service on account of increased volume of the facial area in three sites. The X-rays showed radiopaque images characteristic of osteomas whereas rectosigmoidoscopy revealed intestinal polyps. The osteomas were surgically removed under general anesthesia including condylectomy on the left side. The histological-pathological diagnosis was osteoid osteoma. One year after the surgical procedure, the clinical exam showed esthetic and functional recovery and the radiographies disclosed good bone regeneration in the mandibular angle where the biggest osteoma was found. The patient has recovered very satisfactorily, with excellent oral opening.

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          Most cited references 23

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          Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder.

          Familial adenomatous polyposis (FAP) is an autosomal dominant form of intestinal polyposis and colorectal cancer caused by germ-line mutations in the adenomatous polyposis coli (APC) gene. The term Gardner's syndrome is used to describe extracolonic manifestations, such as osteomas, skin cysts, congenital hypertrophy of the retinal pigmented epithelium (CHRPE), and desmoid tumours (aggressive fibromatosis), that are especially prominent in families with FAP. We postulate that a ciliary dysfunction is the underlying pathogenetic mechanism of extraintestinal manifestations in patients with FAP. This postulation is based on the presence of common clinical manifestations (ie, cysts, retinal abnormalities, and fibrosis) in Gardner's syndrome and cilia-related disorders. Additionally, both APC and the cilia have degradation of beta-catenin as the common downstream target in the Wnt-signalling pathway. Mutations in APC causing Gardner's syndrome are clustered in a region encoding a series of amino-acid repeats responsible for the binding to beta-catenin. Proofs of principle that beta-catenin could be the key mediator of the ciliary disorder also rely in the findings that overexpression of beta-catenin induces polycystic kidney disease, and CHRPE phenotypes in animal models. Other candidates for the common link between Gardner's syndrome and cilia-related disorders are the APC-binding proteins: end-binding protein 1 (EB1) and kinesin-family-member 3a (KIF3a), both of which are ciliary proteins involved in intraflagellar transport. Finally, pathogenetic similarities between some ciliopathies and extraintestinal tumours in FAP suggest a cilia defect. Understanding extracolonic manifestations in the context of FAP as a ciliary disorder might add new therapeutic options for patients with Gardner's syndrome.
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            Solitary osteoma of the mandibular ramus: report of a case.

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              A case report of Gardner syndrome with hereditary widespread osteomatous jaw lesions.

               B. Lee,  Wan-Sik Lee,  S Min (2009)
              Gardner syndrome (GS) is an abnormality of familial adenomatous polyposis accompanied by characteristic jaw lesions. Gardner syndrome intestinal polyps have a 100% risk of undergoing malignant transformation; consequently, early identification and surgical intervention of the disease are important to prolong the life of the patient. We present a case of GS in a 55-year-old woman. Familial adenomatous polyposis, osteomatous jaw and ocular lesions, several dental abnormalities, and an abdominal desmoid tumor are the characteristic features of this case. This case demonstrates the presence of unusual, widespread, hereditary, osteomatous jaw lesions that caused diagnostic confusion with familial gigantiform cementoma.
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                Author and article information

                Affiliations
                [1 ] Hospital General Ciro Redondo Cuba
                [2 ] Hospital General Joaquín Albarrán Cuba
                [3 ] Clínica Estomatológica Docente Severino Rossel Cuba
                Contributors
                Role: ND
                Role: ND
                Role: ND
                Journal
                est
                Revista Cubana de Estomatología
                Rev Cubana Estomatol
                Editorial Ciencias Médicas (Ciudad de La Habana )
                1561-297X
                September 2012
                : 49
                : 3
                : 251-255
                S0034-75072012000300008

                http://creativecommons.org/licenses/by/4.0/

                Product
                Product Information: SciELO Cuba
                Categories
                DENTISTRY, ORAL SURGERY & MEDICINE

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