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Authordc.contributor.authorRodríguez, Fernando Adrián 
Authordc.contributor.authorCastellón, Loreto 
Authordc.contributor.authorMoreno, Regina 
Authordc.contributor.authorPáez, Eduardo 
Authordc.contributor.authorAracena Álvarez, María Inés 
Admission datedc.date.accessioned2020-05-08T14:11:33Z
Available datedc.date.available2020-05-08T14:11:33Z
Publication datedc.date.issued2020
Cita de ítemdc.identifier.citationBirth Defects Research. 2020;1–8.es_ES
Identifierdc.identifier.other10.1002/bdr2.1659
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/174578
Abstractdc.description.abstractWe report the case of a 14-year-old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, she started with interferon alpha-2a to avoid recurrence. She has remained in treatment with successful results during her follow up. Considerable reduction of both maxilla and mandible lesions and bone fill have been documented. In addition, her clinical history and phenotype were suggestive of Noonan syndrome. She has short stature, broad and short neck; hypertelorism (increased distance between the eyes); downslanting palpebral fissures; sparse eyebrows and eyelashes; posteriorly rotated ears with fleshy lobes; follicular keratosis over the face, and developmental delay. Her karyotype was 46, XX. Molecular analysis of RAS/MAPK pathway genes showed a SOS1 amino acid substitution of arginine to lysine at position 552 (p.R552K). This case presents the infrequent condition of Noonan syndrome with multiple giant cell lesions (NS/MGCL) that would be the first patient as far as we know treated with surgery and interferon alpha-2a for her giant cell lesions.es_ES
Lenguagedc.language.isoenes_ES
Publisherdc.publisherWileyes_ES
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile*
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/*
Sourcedc.sourceBirth Defects Researches_ES
Keywordsdc.subjectInterferon alpha-2aes_ES
Keywordsdc.subjectMaxilla and mandible lesionses_ES
Keywordsdc.subjectNoonan syndrome with multiple giant cell lesionses_ES
Keywordsdc.subjectSOS1 variantes_ES
Keywordsdc.subjectRAS/MAPK pathwayes_ES
Títulodc.titleNoonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case reportes_ES
Document typedc.typeArtículo de revistaes_ES
dcterms.accessRightsdcterms.accessRightsAcceso Abierto
Catalogueruchile.catalogadorctces_ES
Indexationuchile.indexArtículo de publicación ISI
Indexationuchile.indexArtículo de publicación SCOPUS


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Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile