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Vol. 11. Issue 2.
Pages 112-115 (March - April 2015)
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Vol. 11. Issue 2.
Pages 112-115 (March - April 2015)
Case Report
DOI: 10.1016/j.reumae.2013.10.009
Peripheral Spondyloarthritis in a Patient With Noonan's Syndrome
Presentación de espondiloartritis periférica en paciente con síndrome de Noonan
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Lina Maria Saldarriaga Rivera
Corresponding author
linamarias7@hotmail.com

Corresponding author.
, Elisa Fernandes de Melo, Priscilla Damião Araujo, Nelson Araujo Silva Filho, Luis Alberto Delgado Quiroz, Blanca Elena Rios Gomes Bica
Servicio de Reumatología. Hospital Universitario Clementino Fraga Filho, Universidad Federal de Río de Janeiro (HUCFF-UFRJ), Rio de Janeiro, Brazil
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Table 1. Van der Burgt Criteria for the Clinical Diagnosis of Noonan's Syndrome.
Abstract

Noonan's syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan's syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature.

Keywords:
Noonan syndrome
Spondyloarthritis
Genetic syndrome
Arthritis
Resumen

El síndrome de Noonan es un síndrome genético autosómico dominante que presenta una gran variabilidad fenotípica, caracterizado principalmente por dimorfismo facial, cardiopatía congénita y talla baja. Describimos el caso de un paciente de sexo masculino con síndrome de Noonan y espondiloartritis periférica, asociación no descrita en la literatura hasta el momento.

Palabras clave:
Síndrome de Noonan
Espondiloartritis
Síndrome genético
Artritis

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