Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Bicuspid aorta

2 articoli — 2015-2021

RI Casi indimenticabili
Una mano da SHOX

Bossini B, Pellegrin MC

2021/8 — pag. 525-526 — DOI

A gene SHOX haploinsufficiency was diagnosed in a 13-year-old girl with short stature. Madelung deformity was absent but some dysmorphism of the fingers and toes were present....

EL Caso contributivo
Cuore e Turner: cosa c’è oltre la coartazione?

E. Mascheroni, E. Berton, G. Tornese

2015/1

A young woman affected by Turner syndrome undergoes periodic cardiac monitoring. Her last ECG documented QT prolongation. QT prolongation is reported in patients with Turner syndrome. This electrophysiological abnor-mality is probably due to an intri...

Argomenti correlati
Heart Defects, Congenital (65) Electrocardiography (47) Turner syndrome (30) Growth Hormone (29) Long QT Syndrome (26) Sindrome di Turner (24) Short stature (24) Bassa statura (17) Dwarfism (16) Limb Deformities, Congenital (8) Growth hormone therapy (7) SHOX gene (7) Sex Chromosome Aberrations (5) Tachycardia, Ventricular (5) Deformità di Madelung (5) QT prolongation (4) Madelung deformity (4) Aorta bicuspide (3) Coartazione dell'aorta (3) SHOX (2)