Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Bertola, D R; Kim, C A; Pereira, A C; Mota, G F; Krieger, J E; Vieira, I C; Valente, M; Loreto, M R; Magalhães, R P; Gonzalez, C H

Bertola, D R; Kim, C A; Pereira, A C; Mota, G F; Krieger, J E; Vieira, I C; Valente, M; Loreto, M R; Magalhães, R P; Gonzalez, C H.

Afiliación

Bertola DR; Clinical Genetics Unit, Department of Pediatrics, University of São Paulo, São Paulo, Brazil. drbertola@attglobal.net

Am J Med Genet ; 98(3): 230-4, 2001 Jan 22.

Article en En | MEDLINE | ID: mdl-11169560

RESUMEN

We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.

Asunto(s)

Granuloma de Células Gigantes/patología; Síndrome de Noonan/patología; Adolescente; Adulto; Cromosomas Humanos Par 12/genética; ADN/genética; Diagnóstico Diferencial; Salud de la Familia; Femenino; Granuloma de Células Gigantes/genética; Haplotipos; Humanos; Masculino; Repeticiones de Microsatélite; Síndrome de Noonan/genética; Linaje; Síndrome

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Granuloma de Células Gigantes / Síndrome de Noonan Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet Año: 2001 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos

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