ABSTRACT
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 (AU)
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 (AU)
Subject(s)
Humans , Male , Adult , Noonan Syndrome/complications , Noonan Syndrome/diagnosis , Spondylarthritis/complications , Spondylarthritis/diagnosis , Spondylarthritis/drug therapy , Arthritis/complications , Arthritis/drug therapy , Arthritis/genetics , Naproxen/therapeutic use , Spondylarthritis/physiopathology , Cardiomyopathy, Hypertrophic/complications , Pulmonary Valve Stenosis/complications , Diagnosis, Differential , Sulfasalazine/therapeutic use , Vitamin D/therapeutic useABSTRACT
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.
