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We present the case of a 11-years-old girl who came to our attention for a first critical episode lasting a few minutes, with spontaneous resolution, described as a generalized clonic tonic crisis, which occurred in full well-being. An electroencephalogram (EEG) was performed which showed focal epileptiform anomalies in the right temporal center that spread evoked by hyperpnea and eye closure and an EEG after sleep deprivation that showed an accentuation of the anomalies in ph...

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hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

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Hashimoto’s Encephalopathy in children: a case report

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

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